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Sample records for sporadic movement disorder

  1. Movement disorders

    International Nuclear Information System (INIS)

    Leenders, K.L.

    1986-01-01

    This thesis describes the measurement of brain-tissue functions in patients with movement disorders using positron emission tomography (PET). This scanning technique is a method for direct in vivo quantitation of the regional tissue content of positron emitting radionuclides in brain (or other organs) in an essentially non-invasive way. Ch. 2 outlines some general features of PET and describes the scanner which has been used for the studies in this thesis. Also the tracer methodology, as applied to data investigations of movement disorders, are discussed. Ch. 3 contains the results of the PET investigations which were performed in the study of movement disorders. The results are presented in the form of 12 papers. The main goals of these studies were the understanding of the pathophysiology of Parkinson's disease, Huntington's chorea, Steele-Richardson-Olzewski syndrome and special case reports. Ch. 4 summarizes the results of these publications and Ch. 5 concludes the main part of this thesis with a general discussion of movement disorders in relation to PET investigations. 697 refs.; 60 figs.; 31 tabs

  2. Stereotypic movement disorder

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001548.htm Stereotypic movement disorder To use the sharing features on this page, please enable JavaScript. Stereotypic movement disorder is a condition in which a person makes ...

  3. Psychogenic Movement Disorders

    Science.gov (United States)

    Morgante, Francesca; Edwards, Mark J.; Espay, Alberto J.

    2013-01-01

    Purpose of Review This review describes the main clinical features of psychogenic (functional) movement disorders and reports recent advances in diagnosis, pathophysiology, and treatment. Recent Findings The terminology and definition of patients with psychogenic movement disorders remain subjects of controversy; the term “functional” has been used more frequently in the literature in recent years regarding the neurobiological substrate underpinning these disorders. Correct diagnosis of psychogenic movement disorders should rely not on the exclusion of organic disorders or the sole presence of psychological factors but on the observation or elicitation of clinical features related to the specific movement disorder (ie, a positive or inclusionary rather than exclusionary diagnosis). Sudden onset, spontaneous remissions, and variability over time or during clinical examination are useful “red flags” suggestive of a psychogenic movement disorder. Imaging studies have demonstrated impaired connectivity between limbic and motor areas involved in movement programming and hypoactivity of a brain region that compares expected data with actual sensory data occurring during voluntary movement. Treatment of psychogenic movement disorders begins with ensuring the patient’s acceptance of the diagnosis during the initial debriefing and includes nonpharmacologic (cognitive-behavioral therapy, physiotherapy) and pharmacologic options. Summary Psychogenic movement disorders represent a challenging disorder for neurologists to diagnose and treat. Recent advances have increased understanding of the neurobiological mechanism of psychogenic movement disorders. Treatment with cognitive strategies and physical rehabilitation can benefit some patients. As short duration of disease correlates with better prognosis, early diagnosis and initiation of treatment are critical. PMID:24092294

  4. Psychogenic Movement Disorders

    Directory of Open Access Journals (Sweden)

    Chakravarty Ambar

    2004-01-01

    Full Text Available Psychogenic movement Disorders (PMD may result from somatoform disorders, factitious disorders, malingering, depression anxiety disorders and less frequently, histrionic personality disorders. First recognized by Henry Head in early twentieth century, PMD s commonly encountered and clues to their differentiation from organic disease. A generally accepted management protocol has been outlined.

  5. Functional Movement Disorder

    Science.gov (United States)

    ... Psychogenic movement may develop as part of a conversion disorder (in which a psychological event causes physical symptoms ... distracted. Many individuals with psychogenic tremor have a conversion disorder. Psychogenic dystonia involves involuntary muscle contractions that cause ...

  6. Psychostimulants and movement disorders.

    Directory of Open Access Journals (Sweden)

    Andres eAsser

    2015-04-01

    Full Text Available Psychostimulants are a diverse group of substances with their main psychomotor effects resembling those of amphetamine, methamphetamine, cocaine or cathinone. Due to their potential as drugs of abuse, recreational use of most of these substances is illegal since the 1971 Convention on Psychotropic Substances. In recent years, new psychoactive substances have emerged mainly as synthetic cathinones with new molecules frequently complementing the list.Psychostimulant related movement disorders are a known entity often seen in emergency rooms around the world. These admissions are becoming more frequent as are fatalities associated with drug abuse. Still the legal constraints of the novel synthetic molecules are bypassed. At the same time chronic and permanent movement disorders are much less frequently encountered. These disorders frequently manifest as a combination of movement disorders. The more common symptoms include agitation, tremor, hyperkinetic and stereotypical movements, cognitive impairment, and also hyperthermia and cardiovascular dysfunction.The pathophysiological mechanisms behind the clinical manifestations have been researched for decades. The common denominator is the monoaminergic signaling. Dopamine has received the most attention but further research has demonstrated involvement of other pathways. Common mechanisms linking psychostimulant use and several movement disorders exist.

  7. Is sporadic Alzheimer's disease a developmental disorder?

    Science.gov (United States)

    Arendt, Thomas; Stieler, Jens; Ueberham, Uwe

    2017-11-01

    Alzheimer's disease (AD) is a neurodegenerative disorder of higher age that specifically occurs in human. Its clinical phase, characterized by a decline in physiological, psychological, and social functioning, is preceded by a long clinically silent phase of at least several decades that might perhaps even start very early in life. Overall, key functional abilities in AD patients decline in reverse order of the development of these abilities during normal childhood and adolescence. Early symptoms of AD, thus, typically affect mental functions that have been acquired only during very recent hominid evolution and as such are specific to human. Neurofibrillar degeneration, a typical neuropathological lesion of the disease and one of the most robust pathological correlates of cognitive impairment, is rarely seen in non-primate mammals and even non-human primates hardly develop a pathology comparable to those seen in AD patients. Neurofibrillar degeneration is not randomly distributed throughout the AD brain. It preferentially affects brain areas that become increasingly predominant during the evolutionary process of encephalization. During progression of the disease, it affects cortical areas in a stereotypic sequence that inversely recapitulates ontogenetic brain development. The specific distribution of cortical pathology in AD, moreover, appears to be determined by the modular organization of the cerebral cortex which basically is a structural reflection of its ontogeny. Here, we summarize recent evidence that phylogenetic and ontogenetic dimensions of brain structure and function provide the key to our understanding of AD. More recent molecular biological studies of the potential pathogenetic role of a genomic mosaic in the brains of patients with AD might even provide arguments for a developmental origin of AD. This article is part of a series "Beyond Amyloid". © 2017 International Society for Neurochemistry.

  8. Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease

    DEFF Research Database (Denmark)

    van Eimeren, Thilo; Binkofski, Ferdinand; Buhmann, Carsten

    2010-01-01

    Treatment-related motor complications such as dyskinesias are a major problem in the long-term management of Parkinson's disease (PD). In sporadic PD, a relatively early onset of the disease is known to be associated with an early development of dyskinesias. Although linked with early onset...... selected movements. Patients with Parkin-associated and sporadic PD showed no difference in movement-related activation patterns. Moreover, the covariates 'age' and 'disease duration' similarly influenced brain activation in both patient groups. The present finding suggests that a stable long-term motor...

  9. Stereotypic Movements in Case of Sporadic Creutzfeldt-Jakob Disease: Possible Role of Anti-NMDA Receptor Antibodies

    Directory of Open Access Journals (Sweden)

    Michelle Molina

    2012-12-01

    Full Text Available Sporadic Creutzfeldt-Jakob disease (sCJD and anti-NMDA receptor antibody encephalitis (NMDAE can both produce a rapidly progressive dementia with resulting state of catatonia or akinetic mutism. Both are associated with movement disorders. In published case series, myoclonus appears to be the most frequent movement disorder in sCJD, while stereotypic, synchronized, one-cycle-per-second movements such as arm or leg elevation, jaw opening, grimacing, head turning, and eye deviation are seen in NMDAE. We report a case of a 59-year-old woman with rapidly worsening cognitive disturbance leading to a nearly catatonic state interrupted by stereotypic movements. sCJD was diagnosed via periodic sharp wave complexes on EEG as well as cerebrospinal fluid (CSF 14-3-3 and tau protein elevation. Characteristic movement disorder of NMDAE was present in absence of ovarian mass or CSF pleiocytosis. Given prior case reports of presence of anti-NMDA receptor antibodies in sCJD, we propose that the movement disorder in this case was caused by anti-NMDA receptor antibodies whose formation was secondary to neuronal damage from prion disease. It is important to consider sCJD even in cases that have some clinical features suggestive of NMDAE.

  10. [Neuropsychiatry Of Movement Disorders].

    Science.gov (United States)

    Orjuela-Rojas, Juan Manuel; Barrios Vincos, Gustavo Adolfo; Martínez Gallego, Melisa Alejandra

    2017-10-01

    Movement disorders can be defined as neurological syndromes presenting with excessive or diminished automatic or voluntary movements not related to weakness or spasticity. Both Parkinson's disease (PD) and Huntington's disease (HD) are well-known examples of these syndromes. The high prevalence of comorbid psychiatric symptoms like depression, anxiety, obsessive-compulsive symptoms, hallucinations, delusions, impulsivity, sleep disorders, apathy and cognitive impairment mean that these conditions must be regarded as neuropsychiatric diseases. In this article, we review neuroanatomical (structural and functional), psychopathological and neuropsychological aspects of PD and HD. The role of fronto-subcortical loops in non-motor functions is particularly emphasised in order to understand the clinical spectrum of both diseases, together with the influence of genetic, psychological and psychosocial aspects. A brief description of the main psychopharmacological approaches for both diseases is also included. Copyright © 2017 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  11. Stereotypic movement disorders.

    Science.gov (United States)

    Singer, Harvey S

    2011-01-01

    Stereotypic movements are repetitive, rhythmic, fixed, patterned in form, amplitude, and localization, but purposeless (e.g., hand shaking, waving, body rocking, head nodding). They are commonly seen in children; both in normal children (primary stereotypy) and in individuals with additional behavioral or neurological signs and symptoms (secondary stereotypy). They should be differentiated from compulsions (OCD), tics (tic disorders), trichotillomania, skin picking disorder, or the direct physiological effect of a substance. There is increasing evidence to support a neurobiological mechanism. Response to behavioral and pharmacological therapies is variable. Copyright © 2011 Elsevier B.V. All rights reserved.

  12. Neuroimaging findings in movement disorders

    International Nuclear Information System (INIS)

    Topalov, N.

    2015-01-01

    Full text: Neuroimaging methods are of great importance for the differential diagnostic delimitation of movement disorders associated with structural damage (neoplasms, ischemic lesions, neuroinfections) from those associated with specific pathophysiological mechanisms (dysmetabolic disorders, neurotransmitter disorders). Learning objective: Presentation of typical imaging findings contributing to nosological differentiation in groups of movement disorders with similar clinical signs. In this presentation are discussed neuroimaging findings in Parkinson‘s disease, atypical parkinsonian syndromes (multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration), parkinsonism in genetically mediated diseases (Wilson’s disease, pantothenate kinase-associated neurodegeneration – PKAN), vascular parkinsonism, hyperkinetic movement disorders (palatal tremor, Huntington‘s chorea, symptomatic chorea in ischemic stroke and diabetes, rubral tremor, ballismus, hemifacial spasm). Contemporary neuroimaging methods enable support for diagnostic and differential diagnostic precision of a number of hypo- and hyperkinetic movement disorders, which is essential for neurological clinical practice

  13. Movement disorders in hereditary ataxias.

    Science.gov (United States)

    Garcia Ruiz, Pedro J; Mayo, David; Hernandez, Jaime; Cantarero, Susana; Ayuso, Carmen

    2002-10-15

    Movement disorders are well known features of some dominant hereditary ataxias (HA), specially SCA3/Machado-Joseph disease and dentatorubropallidolusyan atrophy. However, little is known about the existence and classification of movement disorders in other dominant and recessive ataxias. We prospectively studied the presence of movement disorders in patients referred for HA over the last 3 years. Only those patients with a confirmed family history of ataxia were included. We studied 84 cases of HA, including 46 cases of recessive and 38 cases of dominant HA. Thirty out of 46 cases of recessive HA could be classified as: Friedreich ataxia (FA), 29 cases; vitamin E deficiency, 1 case. Twenty-three out of 38 cases of dominant HA could be classified as: SCA 2, 4 cases; SCA 3, 8 cases; SCA 6, 4 cases; SCA 7, 6 cases and SCA 8, 1 case. We observed movement disorders in 20/38 (52%) patients with dominant HA and 25/46 (54%) cases with recessive HA, including 16 patients (16/29) with FA. In general, postural tremor was the most frequent observed movement disorder (27 cases), followed by dystonia (22 cases). Five patients had akinetic rigid syndrome, and in 13 cases, several movement disorders coexisted. Movement disorders are frequent findings in HA, not only in dominant HA but also in recessive HA. Copyright 2002 Elsevier Science B.V.

  14. Movement disorders emergencies: a review

    Directory of Open Access Journals (Sweden)

    Renato P. Munhoz

    2012-06-01

    Full Text Available Movement disorders (MD encompass acute and chronic diseases characterized by involuntary movements and/or loss of control or efficiency in voluntary movements. In this review, we covered situations in which the main manifestations are MDs that pose significant risks for acute morbidity and mortality. The authors examine literature data on the most relevant MD emergencies, including those related to Parkinson's disease, acute drug reactions (acute dystonia, neuroleptic malignant syndrome, serotonergic syndrome and malignant hyperthermia, acute exacerbation of chronic MD (status dystonicus, hemiballism and stiff-person syndrome, highlighting clinical presentation, demographics, diagnosis and management.

  15. Sensory aspects of movement disorders

    Science.gov (United States)

    Patel, Neepa; Jankovic, Joseph; Hallett, Mark

    2016-01-01

    Movement disorders, which include disorders such as Parkinson’s disease, dystonia, Tourette’s syndrome, restless legs syndrome, and akathisia, have traditionally been considered to be disorders of impaired motor control resulting predominantly from dysfunction of the basal ganglia. This notion has been revised largely because of increasing recognition of associated behavioural, psychiatric, autonomic, and other non-motor symptoms. The sensory aspects of movement disorders include intrinsic sensory abnormalities and the effects of external sensory input on the underlying motor abnormality. The basal ganglia, cerebellum, thalamus, and their connections, coupled with altered sensory input, seem to play a key part in abnormal sensorimotor integration. However, more investigation into the phenomenology and physiological basis of sensory abnormalities, and about the role of the basal ganglia, cerebellum, and related structures in somatosensory processing, and its effect on motor control, is needed. PMID:24331796

  16. Movement disorder emergencies in childhood.

    Science.gov (United States)

    Kirkham, F J; Haywood, P; Kashyape, P; Borbone, J; Lording, A; Pryde, K; Cox, M; Keslake, J; Smith, M; Cuthbertson, L; Murugan, V; Mackie, S; Thomas, N H; Whitney, A; Forrest, K M; Parker, A; Forsyth, R; Kipps, C M

    2011-09-01

    The literature on paediatric acute-onset movement disorders is scattered. In a prospective cohort of 52 children (21 male; age range 2mo-15y), the commonest were chorea, dystonia, tremor, myoclonus, and Parkinsonism in descending order of frequency. In this series of mainly previously well children with cryptogenic acute movement disorders, three groups were recognised: (1) Psychogenic disorders (n = 12), typically >10 years of age, more likely to be female and to have tremor and myoclonus (2) Inflammatory or autoimmune disorders (n = 22), including N-methyl-d-aspartate receptor encephalitis, opsoclonus-myoclonus, Sydenham chorea, systemic lupus erythematosus, acute necrotizing encephalopathy (which may be autosomal dominant), and other encephalitides and (3) Non-inflammatory disorders (n = 18), including drug-induced movement disorder, post-pump chorea, metabolic, e.g. glutaric aciduria, and vascular disease, e.g. moyamoya. Other important non-inflammatory movement disorders, typically seen in symptomatic children with underlying aetiologies such as trauma, severe cerebral palsy, epileptic encephalopathy, Down syndrome and Rett syndrome, include dystonic posturing secondary to gastro-oesophageal reflux (Sandifer syndrome) and Paroxysmal Autonomic Instability with Dystonia (PAID) or autonomic 'storming'. Status dystonicus may present in children with known extrapyramidal disorders, such as cerebral palsy or during changes in management e.g. introduction or withdrawal of neuroleptic drugs or failure of intrathecal baclofen infusion; the main risk in terms of mortality is renal failure from rhabdomyolysis. Although the evidence base is weak, as many of the inflammatory/autoimmune conditions are treatable with steroids, immunoglobulin, plasmapheresis, or cyclophosphamide, it is important to make an early diagnosis where possible. Outcome in survivors is variable. Using illustrative case histories, this review draws attention to the practical difficulties in

  17. Ketotic hyperglycemia with movement disorder

    Directory of Open Access Journals (Sweden)

    Disha Awasthi

    2012-01-01

    Full Text Available Chorea, hemichorea-hemiballismus and severe partial seizures may be the presenting features of nonketotic hyperglycemia in older adults with type 2 diabetes, but cases in young adults with type 1 diabetes are rare. We hereby report a very rare case of diabetic ketosis with movement disorder in a young patient.

  18. Treatable inherited rare movement disorders

    NARCIS (Netherlands)

    Jinnah, H A; Albanese, Alberto; Bhatia, Kailash P; Cardoso, Francisco; Da Prat, Gustavo; de Koning, Tom J; Espay, Alberto J; Fung, Victor; Garcia-Ruiz, Pedro J; Gershanik, Oscar; Jankovic, Joseph; Kaji, Ryuji; Kotschet, Katya; Marras, Connie; Miyasaki, Janis M; Morgante, Francesca; Munchau, Alexander; Pal, Pramod Kumar; Rodriguez Oroz, Maria C; Rodríguez-Violante, Mayela; Schöls, Ludger; Stamelou, Maria; Tijssen, Marina; Uribe Roca, Claudia; de la Cerda, Andres; Gatto, Emilia M

    There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms

  19. Identifying the genetic components underlying the pathophysiology of movement disorders

    Directory of Open Access Journals (Sweden)

    Ezquerra M

    2011-06-01

    Full Text Available Mario Ezquerra, Yaroslau Compta, Maria J MartiParkinson’s Disease and Movement Disorders Unit, Service of Neurology, Institute of Clinical Neurosciences, Hospital Clinic of Barcelona, IDIBAPS, CIBERNED, SpainAbstract: Movement disorders are a heterogeneous group of neurological conditions, few of which have been classically described as bona fide hereditary illnesses (Huntington’s chorea, for instance. Most are considered to be either sporadic or to feature varying degrees of familial aggregation (parkinsonism and dystonia. In the late twentieth century, Mendelian monogenic mutations were found for movement disorders with a clear and consistent family history. Although important, these findings apply only to very rare forms of movement disorders. Already in the twenty-first century, and taking advantage of the modern developments in genetics and molecular biology, growing attention is being paid to the complex genetics of movement disorders. The search for risk genetic variants (polymorphisms in large cohorts and the identification of different risk variants across different populations and ethnic groups are under way, with the most relevant findings to date corresponding to recent genome wide association studies in Parkinson’s disease. These new approaches focusing on risk variants may enable the design of screening tests for early or even preclinical disease, and the identification of likely therapeutic targets.Keywords: genetics, movement disorders, Parkinson’s disease, parkinsonism, dystonia

  20. Sensorimotor integration in movement disorders.

    Science.gov (United States)

    Abbruzzese, Giovanni; Berardelli, Alfredo

    2003-03-01

    Although current knowledge attributes movement disorders to a dysfunction of the basal ganglia-motor cortex circuits, abnormalities in the peripheral afferent inputs or in their central processing may interfere with motor program execution. We review the abnormalities of sensorimotor integration described in the various types of movement disorders. Several observations, including those of parkinsonian patients' excessive reliance on ongoing visual information during movement tasks, suggest that proprioception is defective in Parkinson's disease (PD). The disturbance of proprioceptive regulation, possibly related to the occurrence of abnormal muscle-stretch reflexes, might be important for generating hypometric or bradykinetic movements. Studies with somatosensory evoked potentials (SEPs), prepulse inhibition, and event-related potentials support the hypothesis of central abnormalities of sensorimotor integration in PD. In Huntington's disease (HD), changes in SEPs and long-latency stretch reflexes suggest that a defective gating of peripheral afferent input to the brain might impair sensorimotor integration in cortical motor areas, thus interfering with the processing of motor programs. Defective motor programming might contribute to some features of motor impairment in HD. Sensory symptoms are frequent in focal dystonia and sensory manipulation can modify the dystonic movements. In addition, specific sensory functions (kinaesthesia, spatial-temporal discrimination) can be impaired in patients with focal hand dystonia, thus leading to a "sensory overflow." Sensory input may be abnormal and trigger focal dystonia, or defective "gating" may cause an input-output mismatch in specific motor programs. Altogether, several observations strongly support the idea that sensorimotor integration is impaired in focal dystonia. Although elemental sensation is normal in patients with tics, tics can be associated with sensory phenomena. Some neurophysiological studies suggest that

  1. Perspectives on functional and hyperkinetic movement disorders : Phenomenology & pathophysiology

    NARCIS (Netherlands)

    van der Salm, S.M.A.

    2017-01-01

    Functional movement disorders (FMD), previously known as conversion disorders or psychogenic movement disorders, are abnormal movements which cannot be attributed to other neurological disorders. FMD are frequently encountered in movement disorder outpatient clinics. Yet, most neurologists consider

  2. Stereotypic movement disorder: easily missed.

    Science.gov (United States)

    Freeman, Roger D; Soltanifar, Atefeh; Baer, Susan

    2010-08-01

    To expand the understanding of stereotypic movement disorder (SMD) and its differentiation from tics and autistic stereotypies. Forty-two children (31 males, mean age 6y 3mo, SD 2y 8mo; 11 females, mean age 6y 7mo, SD 1y 9mo) consecutively diagnosed with SMD, without-self-injurious behavior, intellectual disability, sensory impairment, or an autistic spectrum disorder (ASD), were assessed in a neuropsychiatry clinic. A list of probe questions on the nature of the stereotypy was administered to parents (and to children if developmentally ready). Questionnaires administered included the Stereotypy Severity Scale, Short Sensory Profile, Strengths and Difficulties Questionnaire, Repetitive Behavior Scale--Revised, and the Developmental Coordination Disorder Questionnaire. The stereotyped movement patterns were directly observed and in some cases further documented by video recordings made by parents. The probe questions were used again on follow-up at a mean age of 10 years 7 months (SD 4y 4mo). Mean age at onset was 17 months. Males exceeded females by 3:1. Family history of a pattern of SMD was reported in 13 and neuropsychiatric comorbidity in 30 (attention-deficit-hyperactivity disorder in 16, tics in 18, and developmental coordination disorder in 16). Obsessive-compulsive disorder occurred in only two. The Short Sensory Profile correlated with comorbidity (p<0.001), the Stereotypy Severity Scale (p=0.009), and the Repetitive Behavior Scale (p<0.001); the last correlated with the Stereotypy Severity Scale (p=0.001). Children (but not their parents) liked their movements, which were usually associated with excitement or imaginative play. Mean length of follow-up was 4 years 8 months (SD 2y 10mo). Of the 39 children followed for longer than 6 months, the behavior stopped or was gradually shaped so as to occur primarily privately in 25. Misdiagnosis was common: 26 were initially referred as tics, 10 as ASD, five as compulsions, and one as epilepsy. Co-occurring facial

  3. Functional jerks, tics, and paroxysmal movement disorders

    NARCIS (Netherlands)

    Dreissen, Y. E. M.; Cath, D C; Tijssen, M A J; Hallet, Mark; Stone, Jon; Carson, Alan

    2017-01-01

    Functional jerks are among the most common functional movement disorders. The diagnosis of functional jerks is mainly based on neurologic examination revealing specific positive clinical signs. Differentiation from other jerky movements, such as tics, organic myoclonus, and primary paroxysmal

  4. Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

    LENUS (Irish Health Repository)

    Kimmich, Okka

    2012-02-01

    Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects <50 years of age; 22 subjects >50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige\\'s syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1\\/61 (2%) control subjects, 27\\/32 (84%) patients with adult-onset primary torsion dystonia and 32\\/73 (44%) unaffected relatives [siblings (20\\/36; 56%), offspring (11\\/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

  5. Eye Movement Disorders in Dyslexia. Final Report.

    Science.gov (United States)

    Festinger, Leon; And Others

    Eye movements of 18 male and seven female dyslexic children and 10 normal children were evaluated to determine if eye movement disorders may be the cause of some of the symptoms associated with dyslexia. Data on eye movements were collected while Ss moved their eyes from one fixation point to another in a nonreading situation. Errors in vertical…

  6. Rapid eye movement sleep behavior disorder

    DEFF Research Database (Denmark)

    Schenck, C H; Montplaisir, J Y; Frauscher, B

    2013-01-01

    We aimed to provide a consensus statement by the International Rapid Eye Movement Sleep Behavior Disorder Study Group (IRBD-SG) on devising controlled active treatment studies in rapid eye movement sleep behavior disorder (RBD) and devising studies of neuroprotection against Parkinson disease (PD...

  7. Surgical management of movement disorders | Enslin | South ...

    African Journals Online (AJOL)

    Movement disorders are usually treated by neurologists, and appropriately so. The first-line management of all conditions that are grouped together as movement disorders (e.g. Parkinson's disease, dystonia, essential tremor) is with medication and, in some, with rehabilitative strategies, such as occupational therapy, ...

  8. [Movement disorders in childhood: therapeutic update].

    Science.gov (United States)

    Roubertie, A; Leydet, J; Rivier, F; Humbertclaude, V; Cheminal, R; Echenne, B

    2004-08-01

    Abnormal movements are not uncommon in childhood. Due to the severity of the abnormal movements or to the functional disability, a medical treatment is often required; the wide range of available pharmacological molecules and the absence of therapeutic consensus highlight the limited efficacy of the medical treatment on dystonic or athetoid movements, or severe tic disorders. The recent identification of the enzymatic defect implicated in metabolic diseases led to the development of specific treatment for newly recognized disorders, with more or less interesting results (creatine ou biotine supplementation). Recent progress in functional neurosurgery opened new fields in the treatment of movement disorders. Intrathecal baclofen was proved effective in the treatment of secondary dystonia, especially in patients with cerebral palsy. Deep brain stimulation is now an established therapy for patients with a generalized dystonic syndrome. Given the successful results of pallidal stimulation in dystonia, the indication of this procedure has been discussed in other types of abnormal movements.

  9. Stereotyped movement disorder in ICD-11

    Directory of Open Access Journals (Sweden)

    Dan J. Stein

    2014-01-01

    Full Text Available According to current proposals for ICD-11, stereotyped movement disorder will be classified in the grouping of neurodevelopmental disorders, with a qualifier to indicate whether self-injury is present, similar to the classification of stereotypic movement disorder in DSM-5. At the same time, the WHO ICD-11 Working Group on the Classification of Obsessive-Compulsive and Related Disorders has proposed a grouping of body-focused repetitive behavior disorders within the obsessive-compulsive and related disorders (OCRD cluster to include trichotillomania and skin-picking disorder. DSM-5 has taken a slightly different approach: trichotillomania and excoriation (skin picking disorder are included in the OCRD grouping, while body-focused repetitive behavior disorder is listed under other specified forms of OCRD. DSM-5 also includes a separate category of nonsuicidal self-injury in the section on “conditions for further study.” There are a number of unresolved nosological questions regarding the relationships among stereotyped movement disorder, body-focused repetitive behavior disorders, and nonsuicidal self-injury. In this article, we attempt to provide preliminary answers to some of these questions as they relate to the ICD-11 classification of mental and behavioral disorders.

  10. Stereotyped movement disorder in ICD-11.

    Science.gov (United States)

    Stein, Dan J; Woods, Douglas W

    2014-01-01

    According to current proposals for ICD-11, stereotyped movement disorder will be classified in the grouping of neurodevelopmental disorders, with a qualifier to indicate whether self-injury is present, similar to the classification of stereotypic movement disorder in DSM-5. At the same time, the WHO ICD-11 Working Group on the Classification of Obsessive-Compulsive and Related Disorders has proposed a grouping of body-focused repetitive behavior disorders within the obsessive-compulsive and related disorders (OCRD) cluster to include trichotillomania and skin-picking disorder. DSM-5 has taken a slightly different approach: trichotillomania and excoriation (skin picking) disorder are included in the OCRD grouping, while body-focused repetitive behavior disorder is listed under other specified forms of OCRD. DSM-5 also includes a separate category of nonsuicidal self-injury in the section on "conditions for further study." There are a number of unresolved nosological questions regarding the relationships among stereotyped movement disorder, body-focused repetitive behavior disorders, and nonsuicidal self-injury. In this article, we attempt to provide preliminary answers to some of these questions as they relate to the ICD-11 classification of mental and behavioral disorders.

  11. Advances in surgery for movement disorders.

    Science.gov (United States)

    Rowland, Nathan C; Sammartino, Francesco; Lozano, Andres M

    2017-01-01

    Movement disorder surgery has evolved throughout history as our knowledge of motor circuits and ways in which to manipulate them have expanded. Today, the positive impact on patient quality of life for a growing number of movement disorders such as Parkinson's disease is now well accepted and confirmed through several decades of randomized, controlled trials. Nevertheless, residual motor symptoms after movement disorder surgery such as deep brain stimulation and lack of a definitive cure for these conditions demand that advances continue to push the boundaries of the field and maximize its therapeutic potential. Similarly, advances in related fields - wireless technology, artificial intelligence, stem cell and gene therapy, neuroimaging, nanoscience, and minimally invasive surgery - mean that movement disorder surgery stands at a crossroads to benefit from unique combinations of all these developments. In this minireview, we outline some of these developments as well as evidence supporting topics of recent discussion and controversy in our field. Moving forward, expectations remain high that these improvements will come to encompass an even broader range of patients who might benefit from this therapy and decrease the burden of disease associated with these conditions. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

  12. Movement disorders induced by peripheral trauma

    Directory of Open Access Journals (Sweden)

    Nóbrega José Cláudio Marinho da

    2002-01-01

    Full Text Available Movement disorders induced by central nervous system trauma are well recognized. However, over the last few years, attention has been drawn to the role of peripherally induced movement disorders. We describe three patients presenting respectively dystonia, tremor and choreoathetosis associated with tremor and dystonia of the body parts previously exposed to traumatic injuries. Pathophysiological mechanisms underlying these phenomena are not entirely known, but functional changes in afferent neuronal input to the spinal cord and secondary affection of higher brain stem and subcortical centers are probably involved.

  13. Diagnosis and management of acute movement disorders.

    Science.gov (United States)

    Dressler, D; Benecke, R

    2005-11-01

    Most movement disorders, reflecting degenerative disorders, develop in a slowly progressive fashion. Some movement disorders, however, manifest with an acute onset. We wish to give an overview of the management and therapy of those acute-onset movement disorders.Drug-induced movement disorders are mainly caused by dopamine-receptor blockers (DRB) as used as antipsychotics (neuroleptics) and antiemetics. Acute dystonic reactions usually occur within the first four days of treatment. Typically, cranial pharyngeal and cervical muscles are affected. Anticholinergics produce a prompt relief. Akathisia is characterized by an often exceedingly bothersome feeling of restlessness and the inability to remain still. It is a common side effect of DRB and occurs within few days after their initiation. It subsides when DRB are ceased. Neuroleptic Malignant Syndrome is a rare, but life-threatening adverse reaction to DRB which may occur at any time during DRB application. It is characterised by hyperthermia, rigidity, reduced consciousness and autonomic failure. Therapeutically immediate DRB withdrawal is crucial. Additional dantrolene or bromocriptine application together with symptomatic treatment may be necessary. Paroxysmal dyskinesias are childhood onset disorders characterised by dystonic postures, chorea, athetosis and ballism occurring at irregular intervals. In Paroxysmal Kinesigenic Dyskinesia they are triggered by rapid movements, startle reactions or hyperventilation. They last up to 5 minutes, occur up to 100 times per day and are highly sensitive to anticonvulsants. In Paroxysmal Non-Kinesiogenic Dyskinesia they cannot be triggered, occur less frequently and last longer. Other paroxysmal dyskinesias include hypnogenic paroxysmal dyskinesias, paroxysmal exertional dyskinesia, infantile paroxysmal dystonias, Sandifer's syndrome and symptomatic paroxysmal dyskinesias. In Hereditary Episodic Ataxia Type 1 attacks of ataxia last for up to two minutes, may be accompanied

  14. Bruxism in Movement Disorders: A Comprehensive Review.

    Science.gov (United States)

    Ella, Bruno; Ghorayeb, Imad; Burbaud, Pierre; Guehl, Dominique

    2017-10-01

    Bruxism is an abnormal repetitive movement disorder characterized by jaw clenching and tooth gnashing or grinding. It is classified into two overlapping types: awake bruxism (AB) and sleep bruxism (SB). Theories on factors causing bruxism are a matter of controversy, but a line of evidence suggests that it may to some extent be linked to basal ganglia dysfunction although so far, this topic has received little attention. The purpose of this article was to review cases of bruxism reported in various movement disorders. The biomedical literature was searched for publications reporting the association of bruxism with various types of movement disorders. As a whole, very few series were found, and most papers corresponded to clinical reports. In Parkinsonian syndromes, AB was rarely reported, but seems to be exacerbated by medical treatment, whereas SB is mainly observed during non-REM sleep, as in restless leg syndrome. AB is occasionally reported in Huntington's disease, primary dystonia, and secondary dystonia; however, its highest incidence and severity is reported in syndromes combining stereotypies and cognitive impairment, such as Rett's syndrome (97%), Down syndrome (42%), and autistic spectrum disorders (32%). Taken as a whole, AB seems to be more frequent in hyperkinetic movement disorders, notably those with stereotypies, and is influenced by anxiety, suggesting an involvement of the limbic part of the basal ganglia in its pathophysiology. © 2016 by the American College of Prosthodontists.

  15. The role of a movement disorders clinic.

    LENUS (Irish Health Repository)

    Yssel, J

    2012-02-01

    Ireland\\'s ageing population will result in a substantial increase in neurodegenerative disease with a projected increase in prevalence of Idiopathic Parkinson\\'s disease (IPD) to 9,000 by 2021. There are few published audits of neurology services to assist care planning. As a first step towards evaluating future service needs for this group of patients, we audited a single tertiary referral IPD and Other Movement Disorders clinic for 2006. A total of 497 patients from all counties in Ireland were seen; 225 (59%) of patients had IPD, 32 (8.2%) had atypical parkinsonism, and 22 (5.8%) dystonia. In a subset of 275 patients, 151 (55%) were referred by GPs, 74 (27%) by other consultants, and 49 (18%) by other consultant neurologists. Diagnosis was changed in 22 (38%) and medication was adjusted in 203 (74%). A telephone survey of 50 patients demonstrated 100% satisfaction with the improved access to the clinical nurse specialist, telephone support and improved continuity of care. The IPD and Other Movement Disorders clinic provides an important local, regional, and national diagnostic and therapeutic service for complex movement disorders. It is proposed that a national registry of IPD and audit of the delivery of care to patients with movement disorders is needed.

  16. Rapid eye movement sleep behavior disorder

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle; Jennum, Poul

    2009-01-01

    Rapid eye movement (REM) sleep behaviour disorder (RBD) is characterized by loss of REM sleep and related electromyographic atonia with marked muscular activity and dream enactment behaviour. RBD is seen in 0.5% of the population. It occurs in an idiopathic form and secondarily to medical...

  17. Quantifying Motor Impairment in Movement Disorders

    Directory of Open Access Journals (Sweden)

    James J. FitzGerald

    2018-04-01

    Full Text Available Until recently the assessment of many movement disorders has relied on clinical rating scales that despite careful design are inherently subjective and non-linear. This makes accurate and truly observer-independent quantification difficult and limits the use of sensitive parametric statistical methods. At last, devices capable of measuring neurological problems quantitatively are becoming readily available. Examples include the use of oculometers to measure eye movements and accelerometers to measure tremor. Many applications are being developed for use on smartphones. The benefits include not just more accurate disease quantification, but also consistency of data for longitudinal studies, accurate stratification of patients for entry into trials, and the possibility of automated data capture for remote follow-up. In this mini review, we will look at movement disorders with a particular focus on Parkinson's disease, describe some of the limitations of existing clinical evaluation tools, and illustrate the ways in which objective metrics have already been successful.

  18. Neuropsychiatric movement disorders following streptococcal infection.

    Science.gov (United States)

    Walker, K G; Lawrenson, J; Wilmshurst, J M

    2005-11-01

    The aim of this study was to describe post-streptococcal movement disorders that form part of the acute rheumatic fever complex. The clinical records of patients diagnosed with Sydenham's chorea were analyzed retrospectively to investigate epidemiology, the significance of socioeconomic deprivation, clinical manifestations, treatments, outcomes, long-term morbidity, and disease evolution. Forty-two patients (21 males, 21 females) were diagnosed with Sydenham's chorea. The median presentation age was 9 years 8 months (range 3y 5mo to 13y 2mo). Nineteen patients were of indigenous African ancestry; 23 were of mixed ancestry. All patients lived in poverty and had poor access to medical care. Twelve of the total group had disabling symptoms for longer than 2 years; six of these patients developed paediatric autoimmune neuropsychiatric disorder associated with Streptococcus (Paediatric autoimmune neuropsychiatric disorder associated with Streptococcus [PANDAS]), five Tourette syndrome (TS), and one learning difficulties. Poor outcome was significantly more prevalent in patients of mixed ancestry, in those with a positive family history, previous behavioural problems, or a failure to complete 10 days of penicillin and 'bed-rest'/hospitalization. Sydenham's chorea is one manifestation of post-streptococcal neuropsychiatric movement disorders. This study demonstrates that patients can present with one diagnosis and evolve other neuropsychiatric conditions such as TS and PANDAS. In the South African context, it is important to delineate neuropsychiatric movement disorders associated with streptococcal infections. The potential genetic susceptibility should be explored.

  19. Motor sequence learning and movement disorders.

    Science.gov (United States)

    Doyon, Julien

    2008-08-01

    New insights into the psychophysiological determinants of performance changes and brain plasticity associated with motor sequence learning have recently been gained through behavioral and imaging studies in healthy individuals. In addition, using a variety of motor sequential paradigms in groups of patients affected by a movement disorder, major advances have been achieved in our understanding of the pathophysiological mechanisms underlying Parkinson's and Huntington's diseases, as well as primary forms of dystonia. This review begins by describing the latest findings in normal participants with regards to the dynamic alterations in neural networks observed across the different phases of motor sequence learning. It then focuses on the hotly debated issue of motor memory consolidation, highlighting the results of novel studies that investigated the role of both day and night sleep, the neural substrates and the developmental evolution mediating this process. Finally, this paper addresses current work looking at motor sequence learning in movement disorders that helps to better comprehend the functional contribution of basal ganglia structures to this type of memory, to assess the impact of such diseases on related patterns of brain activation, as well as to identify the neuronal compensatory mechanisms educed by these basal ganglia disorders. Such advances have major implications, not only for optimizing ways to learn new skilled behaviors in real-life situations, but also for guiding therapeutic approaches in patients with movement disorders.

  20. A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder.

    Science.gov (United States)

    Yegya-Raman, Nikhil; Aziz, Rehan; Schneider, Daniel; Tobia, Anthony; Leitch, Megan; Nwobi, Onyi

    2017-01-01

    Background . Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation psychiatry services. Methods . PUBMED/MEDLINE was searched using the terms "Creutzfeldt-Jakob disease", "psychiatric symptoms", "conversion disorder", "somatic symptom disorder", "functional movement disorder", and "functional neurologic disorder". Case . The patient was a 64-year-old woman with no prior psychiatric history who was initially diagnosed with conversion disorder and unspecified anxiety disorder but soon thereafter was discovered to have Creutzfeldt-Jakob disease. Discussion . This case highlights the central role of psychiatric symptoms in early presentations of Creutzfeldt-Jakob disease. Still, few other cases in the literature report functional neurological symptoms as an initial sign. The consultation psychiatrist must remain alert to changing clinical symptoms, especially with uncharacteristic disease presentations.

  1. Laryngeal electromyography in movement disorders: preliminary data

    Directory of Open Access Journals (Sweden)

    Kimaid Paulo A.T.

    2004-01-01

    Full Text Available This study describes preliminary laryngeal electromyography (LEMG data and botulinum toxin treatment in patients with dysphonia due to movement disorders. Twenty-five patients who had been clinically selected for botulinum toxin administration were examined, 19 with suspected laryngeal dystonia or spasmodic dysphonia (SD, 5 with vocal tremor, and 1 with Gilles de la Tourette syndrome (GTS. LEMG evaluations were performed before botulinum toxin administration using monopolar electrodes. Electromyography was consistent with dystonia in 14 patients and normal in 5, and differences in frequency suggesting essential tremor in 3 and Parkinson tremors in 2. The different LEMG patterns and significant improvement in our patients from botulinum toxin therapy has led us to perform laryngeal electromyography as a routine in UNICAMP movement disorders ambulatory.

  2. Rapid eye movement sleep behavior disorder

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle; Jennum, Poul

    2009-01-01

    Rapid eye movement (REM) sleep behaviour disorder (RBD) is characterized by loss of REM sleep and related electromyographic atonia with marked muscular activity and dream enactment behaviour. RBD is seen in 0.5% of the population. It occurs in an idiopathic form and secondarily to medical...... and neurological disease. RBD is related to brainstem pathology. Furthermore, it is increasingly recognized that RBD is frequently related to Parkinsonian disorders and narcolepsy. This article reviews recent knowledge about RBD with focus on the diagnostic process and management. Udgivelsesdato: 2009-May...

  3. Neurobiology of functional (psychogenic) movement disorders.

    Science.gov (United States)

    Edwards, Mark J; Fotopoulou, Aikaterini; Pareés, Isabel

    2013-08-01

    This review explores recent developments in understanding the neurobiological mechanism of functional (psychogenic) movement disorders (FMDs). This is particularly relevant given the resurgence of academic and clinical interest in patients with functional neurological symptoms and the clear shift in diagnostic and treatment approaches away from a pure psychological model of functional symptoms. Recent research findings implicate three key processes in the neurobiology of FMD (and by extension other functional neurological symptoms): abnormal attentional focus, abnormal beliefs and expectations, and abnormalities in sense of agency. These three processes have been combined in recent neurobiological models of FMD in which abnormal predictions related to movement are triggered by self-focused attention, and the resulting movement is generated without the normal sense of agency that accompanies voluntary movement. New understanding of the neurobiology of FMD forms an important part of reappraising the way that patients with FMD (and other functional disorders) are characterized and treated. It also provides a testable framework for further exploring the pathophysiology of these common causes of ill health.

  4. Positron emission tomography in movement disorders

    International Nuclear Information System (INIS)

    Martin, W.R.W.

    1985-01-01

    Positron emission tomography provides a method for the quantitation of regional function within the living human brain. Studies of cerebral metabolism and blood flow in patients with Huntington's disease, Parkinson's disease and focal dystonia have revealed functional abnormalities within substructures of the basal ganglia. Recent developments permit assessment of both pre-synaptic and post-synaptic function ion dopaminergic pathways. These techniques are now being applied to studies of movement disorders in human subjects

  5. Treatment of Functional (Psychogenic) Movement Disorders

    OpenAIRE

    Ricciardi, Luciana; Edwards, Mark J.

    2013-01-01

    Functional (psychogenic) movement disorders are a common source of disability and distress. Despite this, little systematic evidence is available to guide treatment decisions. This situation is likely to have been influenced by the “no man’s land” that such patients occupy between neurologists and psychiatrists, often with neither side feeling a clear responsibility or ability to direct management. The aim of this narrative review is to provide an overview of the current state of the evidence...

  6. The neurophysiology of paediatric movement disorders.

    Science.gov (United States)

    McClelland, Verity M

    2017-12-01

    To demonstrate how neurophysiological tools have advanced our understanding of the pathophysiology of paediatric movement disorders, and of neuroplasticity in the developing brain. Delineation of corticospinal tract connectivity using transcranial magnetic stimulation (TMS) is being investigated as a potential biomarker for response to therapy. TMS measures of cortical excitability and neuroplasticity are also being used to investigate the effects of therapy, demonstrating neuroplastic changes that relate to functional improvements. Analyses of evoked potentials and event-related changes in the electroencephalogaphy spectral activity provide growing evidence for the important role of aberrant sensory processing in the pathophysiology of many different movement disorders. Neurophysiological findings demonstrate that children with clinically similar phenotypes may have differing underlying pathophysiology, which in turn may explain differential response to therapy. Neurophysiological parameters can act as biomarkers, providing a means to stratify individuals, and are well suited to provide biofeedback. They therefore have enormous potential to facilitate improvements to therapy. Although currently a small field, the role of neurophysiology in paediatric movement disorders is poised to expand, both fuelled by and contributing to the rapidly growing fields of neuro-rehabilitation and neuromodulation and the move towards a more individualized therapeutic approach.

  7. Degeneration of rapid eye movement sleep circuitry underlies rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    McKenna, Dillon; Peever, John

    2017-05-01

    During healthy rapid eye movement sleep, skeletal muscles are actively forced into a state of motor paralysis. However, in rapid eye movement sleep behavior disorder-a relatively common neurological disorder-this natural process is lost. A lack of motor paralysis (atonia) in rapid eye movement sleep behavior disorder allows individuals to actively move, which at times can be excessive and violent. At first glance this may sound harmless, but it is not because rapid eye movement sleep behavior disorder patients frequently injure themselves or the person they sleep with. It is hypothesized that the degeneration or dysfunction of the brain stem circuits that control rapid eye movement sleep paralysis is an underlying cause of rapid eye movement sleep behavior disorder. The link between brain stem degeneration and rapid eye movement sleep behavior disorder stems from the fact that rapid eye movement sleep behavior disorder precedes, in the majority (∼80%) of cases, the development of synucleinopathies such as Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy, which are known to initially cause degeneration in the caudal brain stem structures where rapid eye movement sleep circuits are located. Furthermore, basic science and clinical evidence demonstrate that lesions within the rapid eye movement sleep circuits can induce rapid eye movement sleep-specific motor deficits that are virtually identical to those observed in rapid eye movement sleep behavior disorder. This review examines the evidence that rapid eye movement sleep behavior disorder is caused by synucleinopathic neurodegeneration of the core brain stem circuits that control healthy rapid eye movement sleep and concludes that rapid eye movement sleep behavior disorder is not a separate clinical entity from synucleinopathies but, rather, it is the earliest symptom of these disorders. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and

  8. Restless legs syndrome and periodic leg movements in patients with movement disorders: Specific considerations.

    Science.gov (United States)

    Högl, Birgit; Stefani, Ambra

    2017-05-01

    Restless legs syndrome is a frequent neurological disorder with potentially serious and highly distressing treatment complications. The role and potential implications of periodic leg movements during sleep range from being a genetic risk marker for restless legs syndrome to being a cardiovascular risk factor. The diagnosis of restless legs syndrome in patients with daytime movement disorders is challenging and restless legs syndrome needs to be differentiated from other sleep-related movement disorders. This article provides an update on the diagnosis of restless legs syndrome as an independent disorder and the role of periodic leg movements and reviews the association of restless legs syndrome with Parkinson's disease and other movement disorders. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  9. From psychogenic movement disorder to functional movement disorder: it's time to change the name.

    Science.gov (United States)

    Edwards, Mark J; Stone, Jon; Lang, Anthony E

    2014-06-01

    Successive attempts at rebranding may be behind at least some of the proliferation of terms we have at our disposal when describing patients with what are now most often referred to as "psychogenic," "conversion," or "somatoform" symptoms. The most popular term in the movement disorder literature, "psychogenic," provides the aetiology of the disorder within the name, indicating that the symptoms are "born of the mind." Here we argue that it is logical to stop using a term that defines the disorder with regard to a poorly defined aetiology that is not supported by current evidence, and, instead, to use a broad term-functional-not as a "polite eponym" but as a term that is freer from such assumptions and does not reinforce dualistic thinking. The main argument for change is not political or even practical, but scientific. © 2013 International Parkinson and Movement Disorder Society.

  10. Saccadic eye movement applications for psychiatric disorders

    Directory of Open Access Journals (Sweden)

    Bittencourt J

    2013-09-01

    Med/Medline, ISI Web of Knowledge, Cochrane, and SciELO databases were reviewed. Results: Saccadic eye movement appears to be heavily involved in psychiatric diseases covered in this review via a direct mechanism. The changes seen in the execution of eye movement tasks in patients with psychopathologies of various studies confirm that eye movement is associated with the cognitive and motor system. Conclusion: Saccadic eye movement changes appear to be heavily involved in the psychiatric disorders covered in this review and may be considered a possible marker of some disorders. The few existing studies that approach the topic demonstrate a need to improve the experimental paradigms, as well as the methods of analysis. Most of them report behavioral variables (latency/reaction time, though electrophysiological measures are absent. Keywords: depression, bipolar disorder, attention-deficit hyperactivity disorder, schizophrenia, anxiety disorder

  11. Increased sexual arousal in patients with movement disorders

    OpenAIRE

    Teive, Hélio A. G.; Moro, Adriana; Moscovich, Mariana; Munhoz, Renato P.

    2016-01-01

    ABSTRACT Increased of sexual arousal (ISA) has been described in different neurological diseases. The purpose of this study was present a case series of ISA in patients with movement disorders. Method Fifteen patients with different forms of movement disorders (Parkinson’s disease, Huntington’s disease, Tourette´s syndrome, spinocerebellar ataxia type 3), were evaluated in the Movement Disorders Unit of the Federal University of Paraná. Results Among Parkinson’s disease patients there were ...

  12. Stereotypic movement disorder after acquired brain injury.

    Science.gov (United States)

    McGrath, Cynthia M; Kennedy, Richard E; Hoye, Wayne; Yablon, Stuart A

    2002-05-01

    Stereotypic movement disorder (SMD) consists of repetitive, non-functional motor behaviour that interferes with daily living or causes injury to the person. It is most often described in patients with mental retardation. However, recent evidence indicates that this condition is common among otherwise normal individuals. This case study describes a patient with new-onset SMD occurring after subdural haematoma and brain injury. SMD has rarely been reported after acquired brain injury, and none have documented successful treatment. The current psychiatric literature regarding neurochemistry, neuroanatomy, and treatment of SMD are reviewed with particular application to one patient. Treatment options include serotonin re-uptake inhibitors, opioid antagonists and dopamine antagonists. SMD has been under-appreciated in intellectually normal individuals, and may also be unrecognized after brain injury. Further investigation is needed in this area, which may benefit other individuals with SMD as well.

  13. Periodic Limb Movement Disorder (PLMD) and Restless Legs Syndrome (RLS)

    Science.gov (United States)

    ... the syndrome. Risk factors include the following: A sedentary lifestyle Smoking Obesity Many people with narcolepsy or rapid eye movement (REM) behavior disorder move their legs periodically during sleep. Both ...

  14. Charles Dickens: the man, medicine, and movement disorders.

    Science.gov (United States)

    Schoffer, Kerrie L; O'Sullivan, John D

    2006-11-01

    Nineteenth-century Victorian novelists played an important role in developing our understanding of medicine and illness. With the eye of an expert clinician, Charles Dickens provided several detailed accounts of movement disorders in his literary works, many of which predated medical descriptions. His gift for eloquence, imagery, and precision attest not only to the importance of careful clinical observation, but also provide an insightful and entertaining perspective on movement disorders for modern students of neuroscience.

  15. Trichotillomania (hair pulling disorder), skin picking disorder, and stereotypic movement disorder: toward DSM-V.

    Science.gov (United States)

    Stein, Dan J; Grant, Jon E; Franklin, Martin E; Keuthen, Nancy; Lochner, Christine; Singer, Harvey S; Woods, Douglas W

    2010-06-01

    In DSM-IV-TR, trichotillomania (TTM) is classified as an impulse control disorder (not classified elsewhere), skin picking lacks its own diagnostic category (but might be diagnosed as an impulse control disorder not otherwise specified), and stereotypic movement disorder is classified as a disorder usually first diagnosed in infancy, childhood, or adolescence. ICD-10 classifies TTM as a habit and impulse disorder, and includes stereotyped movement disorders in a section on other behavioral and emotional disorders with onset usually occurring in childhood and adolescence. This article provides a focused review of nosological issues relevant to DSM-V, given recent empirical findings. This review presents a number of options and preliminary recommendations to be considered for DSM-V: (1) Although TTM fits optimally into a category of body-focused repetitive behavioral disorders, in a nosology comprised of relatively few major categories it fits best within a category of motoric obsessive-compulsive spectrum disorders, (2) available evidence does not support continuing to include (current) diagnostic criteria B and C for TTM in DSM-V, (3) the text for TTM should be updated to describe subtypes and forms of hair pulling, (4) there are persuasive reasons for referring to TTM as "hair pulling disorder (trichotillomania)," (5) diagnostic criteria for skin picking disorder should be included in DSM-V or in DSM-Vs Appendix of Criteria Sets Provided for Further Study, and (6) the diagnostic criteria for stereotypic movement disorder should be clarified and simplified, bringing them in line with those for hair pulling and skin picking disorder. (c) 2010 Wiley-Liss, Inc.

  16. Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.

    Science.gov (United States)

    Kim, Daniel Seung; Burt, Amber A; Ranchalis, Jane E; Wilmot, Beth; Smith, Joshua D; Patterson, Karynne E; Coe, Bradley P; Li, Yatong K; Bamshad, Michael J; Nikolas, Molly; Eichler, Evan E; Swanson, James M; Nigg, Joel T; Nickerson, Deborah A; Jarvik, Gail P

    2017-06-01

    Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83. Separately, in 117 unrelated probands with sporadic ADHD, we sequenced a panel of 26 genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD) to evaluate whether variation in ASD/ID-associated genes were also present in participants with ADHD. Only one putative deleterious variant (Gln600STOP) in CHD1L was identified; this was found in a single proband. Notably, no other nonsense, splice, frameshift, or highly conserved missense variants in the 26 gene panel were identified and validated. These data suggest that de novo variant analysis in families with independently adjudicated sporadic ADHD diagnosis can identify novel genes implicated in ADHD pathogenesis. Moreover, that only one of the 128 cases (0.8%, 11 exome, and 117 MIP sequenced participants) had putative deleterious variants within our data in 26 genes related to ID and ASD suggests significant independence in the genetic pathogenesis of ADHD as compared to ASD and ID phenotypes. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  17. Rapid eye movement sleep behavior disorder and rapid eye movement sleep without atonia in narcolepsy

    DEFF Research Database (Denmark)

    Dauvilliers, Yves; Jennum, Poul; Plazzi, Giuseppe

    2013-01-01

    Narcolepsy is a rare disabling hypersomnia disorder that may include cataplexy, sleep paralysis, hypnagogic hallucinations, and sleep-onset rapid eye movement (REM) periods, but also disrupted nighttime sleep by nocturnal awakenings, and REM sleep behavior disorder (RBD). RBD is characterized...

  18. Hypnosis and movement disorders: State of the art and perspectives.

    Science.gov (United States)

    Flamand-Roze, C; Célestin-Lhopiteau, I; Roze, E

    Hypnosis might represent an interesting complementary therapeutic approach to movement disorders, as it takes into account not only symptoms, but also well-being, and empowers patients to take a more active role in their treatment. Our review of the literature on the use of hypnosis to treat movement disorders was done by systematically searching the PubMed database for reports published between 1984 and November 2015. The following variables were extracted from each selected paper: study design; sample size; type of movement disorder; hypnotic procedure; treatment duration; and efficacy. Thirteen papers were selected for detailed analysis. Most concerned tremor in Parkinson's disease and tics in Gilles de la Tourette syndrome. Although promising, the data were insufficient to allow conclusions to be drawn on the efficacy of hypnosis in movement disorders or to recommend its use in this setting. Well-designed studies taking into account some specific methodological challenges are needed to determine the possible therapeutic utility of hypnosis in movement disorders. In addition to the potential benefits for such patients, hypnosis might also be useful for studying the neuroanatomical and functional underpinnings of normal and abnormal movements. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  19. Increased sexual arousal in patients with movement disorders.

    Science.gov (United States)

    Teive, Hélio A G; Moro, Adriana; Moscovich, Mariana; Munhoz, Renato P

    2016-04-01

    Increased of sexual arousal (ISA) has been described in different neurological diseases. The purpose of this study was present a case series of ISA in patients with movement disorders. Fifteen patients with different forms of movement disorders (Parkinson's disease, Huntington's disease, Tourette's syndrome, spinocerebellar ataxia type 3), were evaluated in the Movement Disorders Unit of the Federal University of Paraná. Among Parkinson's disease patients there were seven cases with different forms of ISA due to dopaminergic agonist use, levodopa abuse, and deep brain stimulation (DBS). In the group with hyperkinetic disorders, two patients with Huntington's disease, two with Tourette's syndrome, and four with spinocerebellar ataxia type 3 presented with ISA. ISA in this group of patients had different etiologies, predominantly related to dopaminergic treatment or DBS in Parkinson's disease, part of the background clinical picture in Huntington's disease and Tourette's syndrome, and probably associated with cultural aspects in patients with spinocerebellar ataxia type 3.

  20. Parasomnias and Sleep-Related Movement Disorders in Older Adults.

    Science.gov (United States)

    Iranzo, Alex

    2018-03-01

    Parasomnias and sleep-related movement disorders are important problems in older adults. Sleep paralysis is rare, but may occur in families. In a minority of patients with disorders of arousal, the episodes persist until the age of 70. Zolpidem and other medications may induce sleepwalking and sleep-related eating. Most patients with idiopathic rapid eye movement (REM) sleep behavior disorder eventually develop Parkinson's disease or dementia with Lewy bodies. Anti-IgLON5 disease includes abnormal behaviors in NREM and REM sleep. Restless legs syndrome prevalence increases with age. A severe form of periodic limb movements in sleep may mimic REM sleep behavior disorder. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Bilateral Gluteal Dyskinesia: Discussion of a Rare Movement Disorder

    Directory of Open Access Journals (Sweden)

    Anna Sorokin

    2014-03-01

    Full Text Available Background: Involuntary movements of gluteal muscles have rarely been reported. Case Report: This 46‐year‐old female with pelvic endometriosis developed involuntary rhythmic movements in the left gluteus maximus, which within a year became bilateral. The movements gradually increased in intensity and interfered with ambulation. Electromyography, at rest, demonstrated almost continuous periodic gluteal discharges, with left‐sided discharges seeming to lead to those on the right. OnabotulinumtoxinA injections into the gluteal muscles improved the movements. Discussion: A rare and previously unreported form of gluteal involuntary movements with periodic electromyographic discharges is described. The cause is uncertain. The differential diagnosis of this unusual movement disorder is discussed, with the most likely diagnosis being myoclonus.

  2. Morbidities in rapid eye movement sleep behavior disorder

    DEFF Research Database (Denmark)

    Jennum, Poul; Mayer, Geert; Ju, Yo-El

    2013-01-01

    Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD, RBD without any obvious comorbid major neurological disease), is strongly associated with numerous comorbid conditions. The most prominent is that with neurodegenerative disorders, especially synuclein-mediated disorders, above all...... function, neuropsychiatric manifestations and sleep complaints. Furthermore, patients with PD and RBD may have worse prognosis in terms of impaired cognitive function and overall morbidity/mortality; in dementia, the presence of RBD is strongly associated with clinical hallmarks and pathological findings...

  3. Movement Disorders and Deep Brain Stimulation in the Middle East.

    Science.gov (United States)

    Siddiqui, Junaid H; Bhatti, Danish; Alsubaie, Fahd; Bajwa, Jawad A

    2018-02-13

    Deep brain stimulation (DBS) is a well-established neuromodulation therapy for advanced Parkinson disease, essential tremor and dystonia. In as much as this therapy is being developed in the Middle East, a better understanding of the incidence and prevalence of movement disorders, health care, and social framework is required for the region. We reviewed current literature on the incidence and prevalence of various movement disorders in the Middle East amenable to DBS surgery. We also assessed recent efforts to develop DBS in the region. Available data on incidence and prevalence of movement disorders in the Middle East are old, inconclusive, and conflicting. We identify key areas such as cultural background, availability of accessible information, training, infrastructure, and public support groups in the region that may pose challenges. The Middle East is projected to be a growing market for neuromodulation. The available data on incidence and prevalence of movement disorders is from studies that were small, partial, and old, with inconsistent results, highlighting the need for newer, better-designed, and larger studies. DBS in the Middle East will need assessment of incidence and prevalence of movement disorders, existing challenges to its application, and focused efforts on key opportunities to foster development of DBS for this underserved region. This article is an attempt to identify and explore these challenges and propose solutions in anticipation. Copyright © 2018 Elsevier Inc. All rights reserved.

  4. Recognizing Uncommon Presentations of Psychogenic (Functional Movement Disorders

    Directory of Open Access Journals (Sweden)

    José Fidel Baizabal-Carvallo

    2015-01-01

    Full Text Available Background: Psychogenic or functional movement disorders (PMDs pose a challenge in clinical diagnosis. There are several clues, including sudden onset, incongruous symptoms, distractibility, suggestibility, entrainment of symptoms, and lack of response to otherwise effective pharmacological therapies, that help identify the most common psychogenic movements such as tremor, dystonia, and myoclonus.Methods: In this manuscript, we review the frequency, distinct clinical features, functional imaging, and neurophysiological tests that can help in the diagnosis of uncommon presentations of PMDs, such as psychogenic parkinsonism, tics, and chorea; facial, palatal, and ocular movements are also reviewed. In addition, we discuss PMDs at the extremes of age and mass psychogenic illness.Results: Psychogenic parkinsonism (PP is observed in less than 10% of the case series about PMDs, with a female–male ratio of roughly 1:1. Lack of amplitude decrement in repetitive movements and of cogwheel rigidity help to differentiate PP from true parkinsonism. Dopamine transporter imaging with photon emission tomography can also help in the diagnostic process. Psychogenic movements resembling tics are reported in about 5% of PMD patients. Lack of transient suppressibility of abnormal movements helps to differentiate them from organic tics. Psychogenic facial movements can present with hemifacial spasm, blepharospasm, and other movements. Some patients with essential palatal tremor have been shown to be psychogenic. Convergence ocular spasm has demonstrated a high specificity for psychogenic movements. PMDs can also present in the context of mass psychogenic illness or at the extremes of age.Discussion: Clinical features and ancillary studies are helpful in the diagnosis of patients with uncommon presentations of psychogenic movement disorders.

  5. Imaging of dopaminergic system in movement disorders

    International Nuclear Information System (INIS)

    Kim, Yu Kyeong; Kim, Sang Eun

    2007-01-01

    Parkinson's disease is a common neurodegenerative disorder that is mainly caused by dopaminergic neuron loss in the substantia nigra. Several radiopharmaceutics have been developed to evaluated the integrity of dopaminergic neuronal system. In vivo PET and SPECT imaging of presynaptic dopamine imaging are already applied to Parkinson's disease and other parkinsonism, and can demonstrate the dopaminergic dysfunction. This review summarized the use of the presynaptic dopaminergic imaging in PD as biomarkers in evaluation of disease progression as well as in diagnosis of PD

  6. Disorders of Upper Limb Movements in Ataxia-Telangiectasia.

    Directory of Open Access Journals (Sweden)

    Aasef G Shaikh

    Full Text Available Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We used a three-axis accelerometer to assess the natural history and severity of abnormal upper-limb movements in 80 ataxia-telangiectasia and 19 healthy subjects. Recordings were made during goal-directed movements of upper limb (kinetic task, while arms were outstretched (postural task, and at rest. Almost all ataxia-telangiectasia subjects (79/80 had abnormal involuntary movements, such as rhythmic oscillations (tremor, slow drifts (dystonia or athetosis, and isolated rapid movements (dystonic jerks or myoclonus. All patients with involuntary movements had both kinetic and postural tremor, while 48 (61% also had resting tremor. The tremor was present in transient episodes lasting several seconds during two-minute recording sessions of all three conditions. Percent time during which episodic tremor was present was greater for postural and kinetic tasks compared to rest. Resting tremor had higher frequency but smaller amplitude than postural and kinetic tremor. Rapid non-rhythmic movements were minimal during rest, but were triggered during sustained arm postures and goal directed arm movements suggesting they are best considered a form of dystonic jerks or action myoclonus. Advancing age did not correlate with the severity of involuntary limb movements. Abnormal upper-limb movements in ataxia-telangiectasia feature classic cerebellar impairment, but also suggest involvement of the network between the cerebellum and basal ganglia.

  7. Neurodevelopmental movement disorders - an update on childhood motor stereotypies.

    Science.gov (United States)

    Barry, Sinéad; Baird, Gillian; Lascelles, Karine; Bunton, Penny; Hedderly, Tammy

    2011-11-01

    The term 'stereotypies' encompasses a diverse range of movements, behaviours, and/or vocalizations that are repetitive, lack clear function, and sometimes appear to have a negative impact upon an individual's life. This review aims to describe motor stereotypies. This study reviewed the current literature on the nature, aetiology, and treatment of motor stereotypies. Motor stereotypies occur commonly but not exclusively in autistic spectrum disorders. Similar movements are also found in otherwise healthy children and those suffering sensory impairment, social isolation, or severe intellectual disabilities; they may be persistent over time. Although often difficult, it is possible to define and differentiate stereotypies from other movement disorders such as tics through features of the history, such as earlier onset and examination, together with the presence or absence of associated neurological impairment or developmental difficulties. Co-occurrence with other disorders affecting frontostriatal brain systems, including attention-deficit-hyperactivity disorder, obsessive-compulsive disorder, and tic disorders, is common. The underlying function of motor stereotypies remains unclear but may include the maintenance of arousal levels. A neurogenetic aetiology is proposed but requires further study. When treatment is sought, there are both pharmacological and behavioural options. Behavioural treatments for motor stereotypies may in time be shown to be most effective; however, they are difficult to implement in children younger than 7 years old. © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.

  8. Quantification of symptoms of movement disorders employing motion sensors

    NARCIS (Netherlands)

    Martinez Manzanera, Octavio

    2017-01-01

    Clinical evaluation plays a fundamental role in the diagnosis and evaluation of a movement disorder. This evaluation depends, at least to some extent, on a human decision process. To homogenize and improve the reliability of the evaluation rating scales have been developed through the years. In

  9. Neurophysiological basis of rapid eye movement sleep behavior disorder

    DEFF Research Database (Denmark)

    Jennum, Poul; Christensen, Julie Anja Engelhard; Zoetmulder, Marielle

    2016-01-01

    Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by a history of recurrent nocturnal dream enactment behavior and loss of skeletal muscle atonia and increased phasic muscle activity during REM sleep: REM sleep without atonia. RBD and associated comorbidities ha...

  10. Acute Movement Disorder as a Presenting Feature of Hyperglycemia

    African Journals Online (AJOL)

    This report will highlight the significance of movement disorder as an important clinical manifestation of hyperglycaemia particularly in elderly patients. It is a review of six (6) consecutive cases seen over a five year period (1999-2003) along with the relevant literature. Four (4) of the six patients were females aged 54, 65, ...

  11. Impaired Awareness of Movement Disorders in Parkinson's Disease

    Science.gov (United States)

    Amanzio, Martina; Monteverdi, Silvia; Giordano, Alessandra; Soliveri, Paola; Filippi, Paola; Geminiani, Giuliano

    2010-01-01

    Background: This study analyzed the presence of awareness of movement disorders (dyskinesias and hypokinesias) in 25 patients with Parkinson's disease (PD) and motor fluctuations (dyskinesias, wearing off, on-off fluctuations). Of the few studies that have dealt with this topic, none have analyzed the differences in the awareness of motor deficits…

  12. Treatment of Movement Disorders With Focused Ultrasound

    Directory of Open Access Journals (Sweden)

    Paul S Fishman

    2017-05-01

    Full Text Available Although the use of ultrasound as a potential therapeutic modality in the brain has been under study for several decades, relatively few neuroscientists or neurologists are familiar with this technology. Stereotactic brain lesioning had been widely used as a treatment for medically refractory patients with essential tremor (ET, Parkinson disease (PD, and dystonia but has been largely replaced by deep brain stimulation (DBS surgery, with advantages both in safety and efficacy. However, DBS is associated with complications including intracerebral hemorrhage, infection, and hardware malfunction. The occurrence of these complications has spurred interest in less invasive stereotactic brain lesioning methods including magnetic resonance imaging–guided high intensity–focused ultrasound (FUS surgery. Engineering advances now allow sound waves to be targeted noninvasively through the skull to a brain target. High intensities of sonic energy can create a coagulation lesion similar to that of older radiofrequency stereotactic methods, but without opening the skull, recent Food and Drug Administration approval of unilateral thalamotomy for treatment of ET. Clinical studies of stereotactic FUS for aspects of PD are underway. Moderate intensity, pulsed FUS has also demonstrated the potential to safely open the blood-brain barrier for localized delivery of therapeutics including proteins, genes, and cell-based therapy for PD and related disorders. The goal of this review is to provide basic and clinical neuroscientists with a level of understanding to interact with medical physicists, biomedical engineers, and radiologists to accelerate the application of this powerful technology to brain disease

  13. Increased sexual arousal in patients with movement disorders

    Directory of Open Access Journals (Sweden)

    Hélio A. G. Teive

    2016-04-01

    Full Text Available ABSTRACT Increased of sexual arousal (ISA has been described in different neurological diseases. The purpose of this study was present a case series of ISA in patients with movement disorders. Method Fifteen patients with different forms of movement disorders (Parkinson’s disease, Huntington’s disease, Tourette´s syndrome, spinocerebellar ataxia type 3, were evaluated in the Movement Disorders Unit of the Federal University of Paraná. Results Among Parkinson’s disease patients there were seven cases with different forms of ISA due to dopaminergic agonist use, levodopa abuse, and deep brain stimulation (DBS. In the group with hyperkinetic disorders, two patients with Huntington’s disease, two with Tourette’s syndrome, and four with spinocerebellar ataxia type 3 presented with ISA. Conclusions ISA in this group of patients had different etiologies, predominantly related to dopaminergic treatment or DBS in Parkinson’s disease, part of the background clinical picture in Huntington’s disease and Tourette’s syndrome, and probably associated with cultural aspects in patients with spinocerebellar ataxia type 3.

  14. Cheek-biting disorder: another stereotypic movement disorder?

    Science.gov (United States)

    Sarkhel, Sujit; Praharaj, Samir Kumar; Akhtar, Sayeed

    2011-12-01

    Recurrent cheek biting, a form of self-injurious behavior is a rare entity which presents mostly to dentists and dermatologists. We report a case of recurrent severe cheek biting in an adult male leading to mucosal ulceration. The stereotypic pattern of cheek biting and associated behavior bears striking resemblance to other impulse control disorders. Copyright © 2011 Elsevier Ltd. All rights reserved.

  15. Rapid eye movement sleep behavior disorder in patients with probable Alzheimer's disease.

    Science.gov (United States)

    Wang, Pan; Wing, Yun Kwok; Xing, Jianli; Liu, Yong; Zhou, Bo; Zhang, Zengqiang; Yao, Hongxiang; Guo, Yan'e; Shang, Yanchang; Zhang, Xi

    2016-10-01

    Rapid eye movement (REM) sleep behavior disorder (RBD) is commonly associated with neurodegenerative disorders characterized by α-synuclein deposition, including Parkinson's disease, multiple system atrophy, and Lewy body dementia. However, this tendency in tauopathy-mediated diseases is rare and only sporadically reported. We systematically illustrate the occurrence of RBD and sleep features among a cohort of patients with Alzheimer's disease (AD), a non-synucleinopathy. We recruited 105 clinically probable AD patients. Fifteen clinically probable AD patients with suspected RBD underwent a video-polysomnography (vPSG) examination. Five patients with probable AD exhibited RBD. One of the patients performed repeated touching of the head and the face with his hands and flailed his arms. Three patients exhibited hand twisting, exploring, prominent limb kicking, and jerking. The fifth patient exhibited all of the characteristics of RBD (he recalled a dream about fighting animals), and his wife was awakened by his screaming. Of these five patients, one patient took the acetylcholinesterase inhibitor drug donepezil. The patients with AD + RBD demonstrated increases in both tonic and phasic electromyography activity during REM sleep, but sleep architecture did not differ between the AD + RBD and AD-alone groups. RBD can occur in patients with AD. The occurrence of RBD does not change the sleep architecture of AD patients.

  16. The Neuropsychology of Movement and Movement Disorders: Neuroanatomical and Cognitive Considerations.

    Science.gov (United States)

    Haaland, Kathleen Y; Dum, Richard P; Mutha, Pratik K; Strick, Peter L; Tröster, Alexander I

    2017-10-01

    This paper highlights major developments over the past two to three decades in the neuropsychology of movement and its disorders. We focus on studies in healthy individuals and patients, which have identified cognitive contributions to movement control and animal work that has delineated the neural circuitry that makes these interactions possible. We cover advances in three major areas: (1) the neuroanatomical aspects of the "motor" system with an emphasis on multiple parallel circuits that include cortical, corticostriate, and corticocerebellar connections; (2) behavioral paradigms that have enabled an appreciation of the cognitive influences on the preparation and execution of movement; and (3) hemispheric differences (exemplified by limb praxis, motor sequencing, and motor learning). Finally, we discuss the clinical implications of this work, and make suggestions for future research in this area. (JINS, 2017, 23, 768-777).

  17. Neuroleptic-induced movement disorders in a naturalistic schizophrenia population: diagnostic value of actometric movement patterns

    Directory of Open Access Journals (Sweden)

    Tuisku Katinka

    2008-04-01

    Full Text Available Abstract Background Neuroleptic-induced movement disorders (NIMDs have overlapping co-morbidity. Earlier studies have described typical clinical movement patterns for individual NIMDs. This study aimed to identify specific movement patterns for each individual NIMD using actometry. Methods A naturalistic population of 99 schizophrenia inpatients using conventional antipsychotics and clozapine was evaluated. Subjects with NIMDs were categorized using the criteria for NIMD found in the Diagnostic and Statistical Manual for Mental Disorders – Fourth Edition (DSM-IV. Two blinded raters evaluated the actometric-controlled rest activity data for activity periods, rhythmical activity, frequencies, and highest acceleration peaks. A simple subjective question was formulated to test patient-based evaluation of NIMD. Results The patterns of neuroleptic-induced akathisia (NIA and pseudoakathisia (PsA were identifiable in actometry with excellent inter-rater reliability. The answers to the subjective question about troubles with movements distinguished NIA patients from other patients rather well. Also actometry had rather good screening performances in distinguishing akathisia from other NIMD. Actometry was not able to reliably detect patterns of neuroleptic-induced parkinsonism and tardive dyskinesia. Conclusion The present study showed that pooled NIA and PsA patients had a different pattern in lower limb descriptive actometry than other patients in a non-selected sample. Careful questioning of patients is a useful method of diagnosing NIA in a clinical setting.

  18. The Promise of Telemedicine for Movement Disorders: an Interdisciplinary Approach.

    Science.gov (United States)

    Ben-Pazi, H; Browne, P; Chan, P; Cubo, E; Guttman, M; Hassan, A; Hatcher-Martin, J; Mari, Z; Moukheiber, E; Okubadejo, N U; Shalash, A

    2018-04-13

    Advances in technology have expanded telemedicine opportunities covering medical practice, research, and education. This is of particular importance in movement disorders (MDs), where the combination of disease progression, mobility limitations, and the sparse distribution of MD specialists increase the difficulty to access. In this review, we discuss the prospects, challenges, and strategies for telemedicine in MDs. Telemedicine for MDs has been mainly evaluated in Parkinson's disease (PD) and compared to in-office care is cost-effective with similar clinical care, despite the barriers to engagement. However, particular groups including pediatric patients, rare MDs, and the use of telemedicine in underserved areas need further research. Interdisciplinary telemedicine and tele-education for MDs are feasible, provide similar care, and reduce travel costs and travel time compared to in-person visits. These benefits have been mainly demonstrated for PD but serve as a model for further validation in other movement disorders.

  19. Neurosurgical treatment of spasticity and other pediatric movement disorders.

    Science.gov (United States)

    Albright, A Leland

    2003-09-01

    For children whose spasticity and movement disorders are inadequately treated by oral medications and botulinum toxins, neurosurgical procedures are now available to effectively treat spasticity, tremor, and many cases of dystonia. Spastic diplegia can be treated with selective lumbar rhizotomies, which significantly decrease spasticity, increase range of motion, and improve Gross Motor Function Measure scores. Children with spastic quadriparesis and those with secondary dystonia can be treated with intrathecal baclofen, which diminishes both spasticity and dystonia and is associated with improved function and quality of life. Children with primary dystonia and those with tremor can be treated with deep brain stimulation of the internal globus pallidus and thalamus, respectively. Some children with chorea respond to deep brain stimulation. There are no effective neurosurgical treatments for athetosis or ataxia. The effectiveness of neurosurgical treatments of pediatric movement disorders has increased significantly in the past 15 years.

  20. Major depressive disorder alters perception of emotional body movements

    Directory of Open Access Journals (Sweden)

    Morten eKaletsch

    2014-01-01

    Full Text Available Much recent research has shown an association between mood disorders and an altered emotion perception. However, these studies were conducted mainly with stimuli such as faces. This is the first study to examine possible differences in how people with major depressive disorder (MDD and healthy controls perceive emotions expressed via body movements. 30 patients with MDD and 30 healthy controls observed video scenes of human interactions conveyed by point–light displays (PLDs. They rated the depicted emotions and judged their confidence in their rating. Results showed that patients with MDD rated the depicted interactions more negatively than healthy controls. They also rated interactions with negative emotionality as being more intense and were more confident in their ratings. It is concluded that patients with MDD exhibit an altered emotion perception compared to healthy controls when rating emotions expressed via body movements depicted in PLDs.

  1. The movement disorders of Coffin-Lowry syndrome.

    Science.gov (United States)

    Stephenson, John B P; Hoffman, Mary C; Russell, Aline J C; Falconer, Jane; Beach, Richard C; Tolmie, John L; McWilliam, Robert C; Zuberi, Sameer M

    2005-03-01

    Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by mutations in the gene RSK2. Originally, epilepsy was reported as a feature. We and others have since described predominantly sound-startle induced drop attacks that have been labelled 'cataplexy', abnormal startle response and hyperekplexia. We sought to clarify why there should be controversy over the type of paroxysmal events. Review of the literature and our patients confirmed that each centre had studied only a small numbers of individuals (mean = 2). The type of movement disorder varied both with age and between individuals. One individual might have more than one movement disorder. One of our adult patients had several types of movement disorder and epilepsy that merged seamlessly: there was true cataplexy triggered by telling a joke, something close to cataplexy ('cataplexy') triggered by sound-startle, a predominantly hypertonic reaction varying from hyperekplexia to a more prolonged tonic reaction resembling startle epilepsy, and true unprovoked epileptic seizures. In the large database of the Coffin-Lowry Syndrome Foundation family support group, 34 of 170 (20%) individuals with CLS and known age had 'drop attacks' and an additional 9 (5%) of these had additional epileptic seizures. The onset of such events was usually after age 5 years, prevalence peaking at 15-20 years (27%). Many became wheelchair bound as a result. This unique combination of more than one non-epileptic movement disorder and epilepsy deserves further semiological and genetic study both for the patients with CLS and for the wider implications.

  2. The representation of movement disorders in fictional literature.

    Science.gov (United States)

    Voss, Hendrik

    2012-10-01

    This review considers novels, plays and poems dealing with movement disorders in order to show the relevance in the literary context. The motifs are arranged and compared following a modern neurological nosology according to Parkinson syndromes, dystonia, myoclonus, tics, hemifacial spasm, Tourette syndrome, Huntington's disease and hyperekplexia. There is considerable variety in how movement disorders are depicted and how much influence they have on the plot structures. Their usage ranges from a brief reference in order to accentuate aspects of a character's personality or social position, such as in Shakespeare, Dickens, Tolstoy or Galdós; to truly constituting one of the plot's main themes as, for example, with the representation of Lewy body disease in Franzen's The Corrections and Huntington's disease in Vonnegut's Galápagos, Sawyer's Frameshift or McEwan's Saturday. The symbolic connotation of the disease is of major importance, as is its social and psychological impact. Some 20th century authors transfer rhythm patterns of specific movement disorders into the textual structure, including, among others, Beckett.

  3. Functional imaging of neurotransmitter systems in movement disorders

    International Nuclear Information System (INIS)

    Ilgin, N.

    1998-01-01

    PET and SPECT enable the direct measurement of components of the dopaminergic and other systems in the living human brain and offer unique opportunity for the in vivo quantification on the dopaminergic function in PD and other movement disorders. The need to establish the early and differential diagnosis of PD is increasingly important given the recent evidence that early pharmacologic intervention may slow progression of this progressive degenerative disease. Accordingly, imaging with PET and SPECT using specific neuro markers has been increasingly important to biochemically identify the loss of specific neurotransmitters, their synthesizing enzymes and their receptors in movement disorders. Through the parallel development of new radiotracers, kinetic models and better instruments, PET and SPECT technology is enabling investigation of increasingly more complex aspects of the human brain neurotransmitter systems. This paper summarizes the results of different PET-SPECT studies used to evaluate the various elements of the dopamine system in the human brain with PET and intends to introduce the newly emerging specific tracers and their applications to clinical research in movement disorders

  4. Cognitive and Psychiatric Phenotypes of Movement Disorders in Children: A Systematic Review

    Science.gov (United States)

    Ben-Pazi, Hilla; Jaworowski, Solomon; Shalev, Ruth S

    2011-01-01

    Aim: The cognitive and psychiatric aspects of adult movement disorders are well established, but specific behavioural profiles for paediatric movement disorders have not been delineated. Knowledge of non-motor phenotypes may guide treatment and determine which symptoms are suggestive of a specific movement disorder and which indicate medication…

  5. A boy infant with sleep related rhythmic movement disorder showing arm banging

    Directory of Open Access Journals (Sweden)

    Jun Kohyama

    2014-09-01

    Discussion: We diagnosed him as having arm banging type of sleep related rhythmic movement disorder. To our knowledge, no precise description on this type of sleep related rhythmic movement disorder has been found. In addition, this patient seemed to be the youngest case of sleep related rhythmic movement disorder showing arm banging.

  6. Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency

    DEFF Research Database (Denmark)

    Knudsen, Stine; Gammeltoft, Steen; Jennum, Poul J

    2010-01-01

    cataplexy. Main outcome measures were: rapid eye movement sleep behaviour disorder symptoms; short and long muscle activations per hour rapid eye movement and non-rapid eye movement sleep; and periodic and non-periodic limb movements per hour rapid eye movement and non-rapid eye movement sleep. Outcome.......01). Likewise, periodic limb movements per hour rapid eye movement and non-rapid eye movement sleep were only associated with hypocretin deficiency (P ... the association of periodic limb movements and rapid eye movement sleep behaviour disorder outcomes (symptoms, non-periodic short and long muscle activity) in rapid eye movement sleep. Our results support the hypothesis that hypocretin deficiency is independently associated with rapid eye movement sleep behaviour...

  7. Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency

    DEFF Research Database (Denmark)

    Knudsen, Stine; Gammeltoft, Steen; Jennum, Poul J

    2010-01-01

    Rapid eye movement sleep behaviour disorder is characterized by dream-enacting behaviour and impaired motor inhibition during rapid eye movement sleep. Rapid eye movement sleep behaviour disorder is commonly associated with neurodegenerative disorders, but also reported in narcolepsy with cataplexy....... Most narcolepsy with cataplexy patients lack the sleep-wake, and rapid eye movement sleep, motor-regulating hypocretin neurons in the lateral hypothalamus. In contrast, rapid eye movement sleep behaviour disorder and hypocretin deficiency are rare in narcolepsy without cataplexy. We hypothesized...... that rapid eye movement sleep behaviour disorder coexists with cataplexy in narcolepsy due to hypocretin deficiency. In our study, rapid eye movement sleep behaviour disorder was diagnosed by the International Classification of Sleep Disorders (2nd edition) criteria in 63 narcolepsy patients with or without...

  8. Brain plasticity and sleep: Implication for movement disorders.

    Science.gov (United States)

    Caverzasio, Serena; Amato, Ninfa; Manconi, Mauro; Prosperetti, Chiara; Kaelin-Lang, Alain; Hutchison, William Duncan; Galati, Salvatore

    2018-03-01

    Brain plasticity is a lifelong process and involves both Hebbian and non-Hebbian synaptic plasticity. The latter, such as intrinsic plasticity and homeostatic synaptic plasticity or synaptic scaling, is thought to counteract Hebbian plasticity, in order to maintain a balanced network. Recent studies support the role of sleep in the regulation of homeostatic synaptic plasticity involved in memory and learning processes. Most evidence focus on the dependence of memory and plasticity in sleep mechanisms. Abnormal brain plasticity during sleep might be implicated in the development of movement disorders, particularly Parkinson's disease (PD) and dystonia. From that, the great interest to understand the underlying process of sleep in relation to movement disorders. The first objective of the review is to summarize the latest knowledge about brain plasticity. The second objective is to analyze the association between sleep, memory and brain plasticity. Finally, the review aims to assess the consequence of abnormal plasticity during PD and dystonia with a viewpoint on the underling pathogenesis of these disorders. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Restless legs syndrome, periodic leg movements, and periodic limb movement disorder in children.

    Science.gov (United States)

    Durmer, Jeffrey S; Quraishi, Ghazala H

    2011-06-01

    The characteristic symptoms of restless legs syndrome (RLS) have been known for hundreds of years and were first reported in medicine in the 1600s. Clinicians must consider potential mimics, comorbid, and associated conditions when evaluating children with RLS symptoms. The traditional differentiation of RLS from periodic limb movement disorder (PLMD) is noted in children as well as adults. Because current pediatric RLS research is sparse, this article provides the most up-to-date evidence-based as well as consensus opinion-based information on the subject of childhood RLS and PLMD. Prevalence, pathophysiology, diagnosis, treatment, and clinical associations are discussed. Copyright © 2011 Elsevier Inc. All rights reserved.

  10. Functional movement disorders are not uncommon in the elderly.

    Science.gov (United States)

    Batla, Amit; Stamelou, Maria; Edwards, Mark J; Pareés, Isabel; Saifee, Tabish A; Fox, Zoe; Bhatia, Kailash P

    2013-04-01

    Functional movement disorders (FMDs) are thought to be rare in the elderly. Clinical characteristics of the elderly people who develop FMDs are rarely reported. The objective of this study was to highlight the clinical characteristics of FMD in the elderly and compared these with a cohort of patients with a younger age of onset. The authors performed a retrospective review of the clinical records of patients with FMD who were seen at their center in the last 5 years and had consented to be included in research studies. Patients fulfilling currently accepted diagnostic criteria for FMD as documented, clinically established, or probable were included. Of 151 patients with FMD who were identified and had sufficient information, 21.0% (n=33) had an onset after age 60 years (elderly group). The mean age of onset of FMD was 63.5 years (standard deviation, 5.2 years) in the elderly group and 35.5 years (standard deviation, 12.6 years) in the younger group. Tremor was the most common movement disorder in both groups (elderly group, 33.3%; younger group: 38.9%). Fixed dystonia was not observed in any patient who had an FMD onset after age 60 years. Gait abnormalities were significantly more common in the elderly group (69.7%) than in younger patients (23.5%; Pelderly patients (18.2%) compared with younger patients (13%; P=0.06). Contrary to common perceptions, FMDs are not uncommon in the elderly, and 1 in 5 patients in the current cohort, onset of FMD occurred after age 60 years. Gait abnormalities and psychogenic nonepileptic seizures may be more common in older patients. Copyright © 2013 Movement Disorder Society.

  11. Cognition in rapid eye movement sleep behavior disorder

    Directory of Open Access Journals (Sweden)

    Jean-François eGagnon

    2012-05-01

    Full Text Available Rapid eye movement (REM sleep behavior disorder (RBD is a parasomnia characterized by excessive muscle activity and undesirable motor events during REM sleep. RBD occurs in approximately 0.5% of the general population, with a higher prevalence in older men. RBD is a frequent feature of dementia with Lewy bodies (DLB, but is only rarely reported in Alzheimer’s disease. RBD is also a risk factor for α-synuclein-related diseases, such as DLB, Parkinson’s disease (PD, and multiple system atrophy. Therefore, RBD has major implications for the diagnosis and treatment of neurodegenerative disorders and for understanding neurodegeneration mechanisms. Several markers of neurodegeneration have been identified in RBD, including cognitive impairments such as deficits in attention, executive functions, learning capacities, and visuospatial abilities. Approximately 50% of RBD patients present mild cognitive impairment (MCI. Moreover, RBD is also associated with cognitive decline in PD.

  12. Adult onset sporadic ataxias: a diagnostic challenge

    Directory of Open Access Journals (Sweden)

    Orlando Graziani Povoas Barsottini

    2014-03-01

    Full Text Available Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.

  13. Movement disorders and chronic psychosis: Five new things.

    Science.gov (United States)

    Martino, Davide; Morgante, Francesca

    2017-04-01

    To discuss selected peer-reviewed research articles published between 2014 and 2016 and highlight 5 clinically relevant messages related to hyperkinetic and hypokinetic movement disorders in patients with chronic psychosis. A recent population-based study complemented data from clinical trials in showing increased risk of developing extrapyramidal symptoms with antipsychotic use. A community service-based longitudinal study showed that dopamine transporter imaging could help identify subgroups of patients with parkinsonism associated with antipsychotics with a progressive course, potentially manageable with l-dopa. Data from recent noteworthy clinical trials showed that a new VMAT-2 inhibitor and, for pharmacologically refractory tardive dyskinesia, deep brain stimulation of the globus pallidus internus are promising interventions. Finally, a population-based study has confirmed that hyperkinesias (encompassing chorea, dystonia, and stereotypies) may be early predictors of psychosis even in childhood and adolescence. Movement disorders associated with new-generation antipsychotics, including widely used agents (e.g., aripiprazole), are not rare occurrences. Better monitoring is needed to assess their true effect on patients' quality of life and functioning and to prevent underascertainment.

  14. Design of a Magnetic Resonance-Safe Haptic Wrist Manipulator for Movement Disorder Diagnostics

    NARCIS (Netherlands)

    Bode, Dyon; Mugge, Winfred; Schouten, Alfred C.; van Rootselaar, Anne-Fleur; Bour, Lo J.; van der Helm, Frans C. T.; Lammertse, Piet

    2017-01-01

    Tremor, characterized by involuntary and rhythmical movements, is the most common movement disorder. Tremor can have peripheral and central oscillatory components which properly assessed may improve diagnostics. A magnetic resonance (MR)-safe haptic wrist manipulator enables simultaneous measurement

  15. [Electromyography Analysis of Rapid Eye Movement Sleep Behavior Disorder].

    Science.gov (United States)

    Nakano, Natsuko; Kinoshita, Fumiya; Takada, Hiroki; Nakayama, Meiho

    2018-01-01

    Polysomnography (PSG), which records physiological phenomena including brain waves, breathing status, and muscle tonus, is useful for the diagnosis of sleep disorders as a gold standard. However, measurement and analysis are complex for several specific sleep disorders, such as rapid eye movement (REM) sleep behavior disorder (RBD). Usually, brain waves during REM sleep indicate an awakening pattern under relaxed conditions of skeletal and antigravity muscles. However, these muscles are activated during REM sleep when patients suffer from RBD. These activated muscle movements during REM, so-called REM without atonia (RWA) recorded by PSG, may be related to a neurodegenerative disease such as Parkinson's disease. Thus, careful analysis of RWA is significant not only physically, but also clinically. Commonly, manual viewing measurement analysis of RWA is time-consuming. Therefore, quantitative studies on RWA are rarely reported. A software program, developed from Microsoft Office Excel ® , was used to semiautomatically analyze the RWA ratio extracted from PSG to compare with manual viewing measurement analysis. In addition, a quantitative muscle tonus study was carried out to evaluate the effect of medication on RBD patients. Using this new software program, we were able to analyze RWA on the same cases in approximately 15 min as compared with 60 min in the manual viewing measurement analysis. This software program can not only quantify RWA easily but also identify RWA waves for either phasic or tonic bursts. We consider that this software program will support physicians and scientists in their future research on RBD. We are planning to offer this software program for free to physicians and scientists.

  16. Psychogenic Balance Disorders: Is It a New Entity of Psychogenic Movement Disorders?

    Directory of Open Access Journals (Sweden)

    Jong Sam Baik

    2012-05-01

    Full Text Available The various reported psychogenic dyskinesias include tremor, dystonia, myoclonus, gait disorder, Parkinsonism, tics, and chorea. It is not easy to diagnose psychogenic movement disorders, especially in patients with underlying organic disease. We describe three patients with balance and/or posture abnormalities that occur when they stand up, start to move, or halt from walking, although their gaits are normal. One had an underlying unilateral frontal lobe lesion. All patients improved dramatically after receiving a placebo-injection or medication. These abnormal features differ from the previously reported features of astasia without abasia and of psychogenic gait disorders, including recumbent gait. We describe and discuss the patients’ unique clinical characteristics.

  17. Ictal SPECT in patients with rapid eye movement sleep behaviour disorder.

    Science.gov (United States)

    Mayer, Geert; Bitterlich, Marion; Kuwert, Torsten; Ritt, Philipp; Stefan, Hermann

    2015-05-01

    Rapid eye movement sleep behaviour disorder is a rapid eye movement parasomnia clinically characterized by acting out dreams due to disinhibition of muscle tone in rapid eye movement sleep. Up to 80-90% of the patients with rapid eye movement sleep behaviour disorder develop neurodegenerative disorders within 10-15 years after symptom onset. The disorder is reported in 45-60% of all narcoleptic patients. Whether rapid eye movement sleep behaviour disorder is also a predictor for neurodegeneration in narcolepsy is not known. Although the pathophysiology causing the disinhibition of muscle tone in rapid eye movement sleep behaviour disorder has been studied extensively in animals, little is known about the mechanisms in humans. Most of the human data are from imaging or post-mortem studies. Recent studies show altered functional connectivity between substantia nigra and striatum in patients with rapid eye movement sleep behaviour disorder. We were interested to study which regions are activated in rapid eye movement sleep behaviour disorder during actual episodes by performing ictal single photon emission tomography. We studied one patient with idiopathic rapid eye movement sleep behaviour disorder, one with Parkinson's disease and rapid eye movement sleep behaviour disorder, and two patients with narcolepsy and rapid eye movement sleep behaviour disorder. All patients underwent extended video polysomnography. The tracer was injected after at least 10 s of consecutive rapid eye movement sleep and 10 s of disinhibited muscle tone accompanied by movements registered by an experienced sleep technician. Ictal single photon emission tomography displayed the same activation in the bilateral premotor areas, the interhemispheric cleft, the periaqueductal area, the dorsal and ventral pons and the anterior lobe of the cerebellum in all patients. Our study shows that in patients with Parkinson's disease and rapid eye movement sleep behaviour disorder-in contrast to wakefulness

  18. Re-emergence of striatal cholinergic interneurons in movement disorders.

    Science.gov (United States)

    Pisani, Antonio; Bernardi, Giorgio; Ding, Jun; Surmeier, D James

    2007-10-01

    Twenty years ago, striatal cholinergic neurons were central figures in models of basal ganglia function. But since then, they have receded in importance. Recent studies are likely to lead to their re-emergence in our thinking. Cholinergic interneurons have been implicated as key players in the induction of synaptic plasticity and motor learning, as well as in motor dysfunction. In Parkinson's disease and dystonia, diminished striatal dopaminergic signalling leads to increased release of acetylcholine by interneurons, distorting network function and inducing structural changes that undoubtedly contribute to the symptoms. By contrast, in Huntington's disease and progressive supranuclear palsy, there is a fall in striatal cholinergic markers. This review gives an overview of these recent experimental and clinical studies, placing them within the context of the pathogenesis of movement disorders.

  19. [Parkinson Disease With Rapid Eye Movement Sleep Behavior Disorder].

    Science.gov (United States)

    Hu, Yang; Zhang, Wei

    2015-06-01

    Rapid eye movement (REM) sleep behavior disorder (RBD) is characterized by lack of muscle atonia during REM sleep and enactment of dream content. RBD is associated with Parkinson disease (PD) and has high incidence in PD patients. PD patient with RBD mainly presents rigid type, has longer disease duration, more severe motor and non-motor symptoms and poorer activity of daily living and life quality. The pathophysiological mechanisms of RBD may be related to dysfunctions of pontine tegmentum, locus coeruleus/sub-locus coeruleus complex and related projections. The diagnosis of RBD depends on clinical histories and video-polysomnography (v-PSG). Besides treatment for PD, protective measures have to be taken for patients and their sleep partners. If abnormal behaviors during sleep cause distress and danger,patients should be given drug therapy.

  20. Antiparkinsonian Efficacy of Guanosine in Rodent Models of Movement Disorder

    Science.gov (United States)

    Massari, Caio M.; López-Cano, Marc; Núñez, Fabiana; Fernández-Dueñas, Víctor; Tasca, Carla I.; Ciruela, Francisco

    2017-01-01

    Guanosine (GUO) is a guanine-based purine nucleoside with important trophic functions and promising neuroprotective properties. Although the neuroprotective effects of GUO have been corroborated in cellular models of Parkinson’s disease (PD), its efficacy as an antiparkinsonian agent has not been fully explored in PD animal models. Accordingly, we evaluated the effectiveness of GUO in reversing motor impairments in several rodent movement disorder models, including catalepsy, tremor, and hemiparkinsonism. Our results showed that orally administered GUO antagonized reserpine-mediated catalepsy, reduced reserpine-induced tremulous jaw movements, and potentiated the number of contralateral rotations induced by L-3,4-dihydroxyphenylalanine in unilaterally 6-hydroxidopamine-lesioned rats. In addition, at 5 and 7.5 mg/kg, GUO inhibited L-DOPA-induced dyskinesia in rats chronically treated with a pro-dopaminergic agent. Overall, we describe the therapeutic potential of GUO, which may be effective not only for reversing parkinsonian motor impairments but also for reducing dyskinesia induced by treatment for PD. PMID:29046640

  1. Dopamine transporter imaging in rapid eye movement sleep behavior disorder

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yu Kyeong; Yoon, In Young; Kim, Jong Min; Jeong, Seok Hoon; Kim, Ji Sun; Lee, Byung Chul; Lee, Won Woo; Kim, Sang Eun [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)

    2007-07-01

    The pathogenesis of rapid eye movement (REM) sleep behavior disorder (RBD) is still unknown. However, involvement of dopaminergic system in RBD has been hypothesized because of frequent association with degenerative movement disorders such as Parkinson's disease. The purpose of this study was to examine the extent and pattern of loss of dopamine transporter in RBD using FP-CIT SPECT. Fourteen patient with idiopathic RBD (mean age:665 yrs, M:F=10:3) participated in this study. Polysonmography confirmed loss of REM atonia and determined RBD severities by amount of tonic/phasic muscle activity during REM sleep in all cases. To compare with RBD, 14 early idiopathic Parkinson's disease rated as Hoehn and Yahr stage 1 (IPD) and 12 healthy controls were also selected. All participants performed single-photon emission computed tomography (SPECT) imaging 3 hours after injection of [123I]FP-CIT. Regions of interest were drawn on bilateral caudate and putamen, whole striatum and occipital cortex. Specific binding for dopamine transporters (DAT) were calculated using region to occipital uptake ratio based on the transient equilibrium method. Overall mean of DAT density in the striatum was lower in RBD group than controls, and higher than IPD group, However, DAT density in most individual RBD was still within normal range, and total striatal DAT density was not correlated with severity of RBD. Meanwhile, the caudate to putamen uptake ratio (C/P ratio) in RBD group was insignificantly higher than those in healthy controls. Nevertheless, C/P ratio within RBD group was reversely correlated with the RBD severity. Our study suggested that nigrostriatal dopaminergic degeneration could be a part of the pathogenesis of RBD, but not essential for the development of RBD. Further longitudinal evaluation of presynaptic dopaminergic system in idiopathic RBD may guarantee the more understanding for RBD and associated neurodegenerative disease.

  2. Dopamine transporter imaging in rapid eye movement sleep behavior disorder

    International Nuclear Information System (INIS)

    Kim, Yu Kyeong; Yoon, In Young; Kim, Jong Min; Jeong, Seok Hoon; Kim, Ji Sun; Lee, Byung Chul; Lee, Won Woo; Kim, Sang Eun

    2007-01-01

    The pathogenesis of rapid eye movement (REM) sleep behavior disorder (RBD) is still unknown. However, involvement of dopaminergic system in RBD has been hypothesized because of frequent association with degenerative movement disorders such as Parkinson's disease. The purpose of this study was to examine the extent and pattern of loss of dopamine transporter in RBD using FP-CIT SPECT. Fourteen patient with idiopathic RBD (mean age:665 yrs, M:F=10:3) participated in this study. Polysonmography confirmed loss of REM atonia and determined RBD severities by amount of tonic/phasic muscle activity during REM sleep in all cases. To compare with RBD, 14 early idiopathic Parkinson's disease rated as Hoehn and Yahr stage 1 (IPD) and 12 healthy controls were also selected. All participants performed single-photon emission computed tomography (SPECT) imaging 3 hours after injection of [123I]FP-CIT. Regions of interest were drawn on bilateral caudate and putamen, whole striatum and occipital cortex. Specific binding for dopamine transporters (DAT) were calculated using region to occipital uptake ratio based on the transient equilibrium method. Overall mean of DAT density in the striatum was lower in RBD group than controls, and higher than IPD group, However, DAT density in most individual RBD was still within normal range, and total striatal DAT density was not correlated with severity of RBD. Meanwhile, the caudate to putamen uptake ratio (C/P ratio) in RBD group was insignificantly higher than those in healthy controls. Nevertheless, C/P ratio within RBD group was reversely correlated with the RBD severity. Our study suggested that nigrostriatal dopaminergic degeneration could be a part of the pathogenesis of RBD, but not essential for the development of RBD. Further longitudinal evaluation of presynaptic dopaminergic system in idiopathic RBD may guarantee the more understanding for RBD and associated neurodegenerative disease

  3. Lower urinary tract dysfunction in patients with functional movement disorders.

    Science.gov (United States)

    Batla, Amit; Pareés, Isabel; Edwards, Mark J; Stamelou, Maria; Bhatia, Kailash P; Panicker, Jalesh N

    2016-02-15

    Functional movement disorders (FMD) are not associated with the kind of structural or biochemical alterations seen in other movement disorders and therefore would be unlikely to be associated with lower urinary tract (LUT) dysfunction. However, LUT symptoms have been observed in patients with FMD. To evaluate the frequency and pattern of LUT symptoms, their possible nature and the impact they have on the quality of life of patients with FMD. The clinical records of patients with FMD were reviewed retrospectively and patients reporting LUT symptoms were invited to complete standardised validated questionnaires-Urinary Symptom Profile (USP) and Short Form-Qualiveen (SFQ). Management of LUT dysfunction was also reviewed. Out of the 150 patients with clinically established (n=97) or probable (n=53) FMDs, thirty (20%) self-reported LUT symptoms. Twenty two of these completed the USP and SFQ questionnaires. Overactive bladder symptoms were most commonly reported (n=14; 63.6%). Patients with fixed dystonia reported more severe LUT symptoms and had higher SFQ scores as compared to patients with other FMDs (p=0.01). Five patients with significant LUT symptoms had been referred to uroneurology. Of them, three had urinary retention managed with sacral neuromodulation, two had overactive bladder and were managed conservatively. LUT dysfunction can be seen in 20% patients with FMD. Patients with fixed dystonia are more likely to report LUT dysfunction which can be severe. It may be advisable to ask for LUT symptoms in all patients with FMD and be more proactive in referring them for specialist investigation and treatment. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. Periodic Limb Movements During Sleep Mimicking REM Sleep Behavior Disorder: A New Form of Periodic Limb Movement Disorder.

    Science.gov (United States)

    Gaig, Carles; Iranzo, Alex; Pujol, Montserrat; Perez, Hernando; Santamaria, Joan

    2017-03-01

    To describe a group of patients referred because of abnormal sleep behaviors that were suggestive of rapid eye movement (REM) sleep behavior disorder (RBD) in whom video-polysomnography ruled out RBD and showed the reported behaviors associated with vigorous periodic limb movements during sleep (PLMS). Clinical history and video-polysomnography review of patients identified during routine visits in a sleep center. Patients were 15 men and 2 women with a median age of 66 (range: 48-77) years. Reported sleep behaviors were kicking (n = 17), punching (n = 16), gesticulating (n = 8), falling out of bed (n = 5), assaulting the bed partner (n = 2), talking (n = 15), and shouting (n = 10). Behaviors resulted in injuries in 3 bed partners and 1 patient. Twelve (70.6%) patients were not aware of displaying abnormal sleep behaviors that were only noticed by their bed partners. Ten (58.8%) patients recalled unpleasant dreams such as being attacked or chased. Video-polysomnography showed (1) frequent and vigorous stereotyped PLMS involving the lower limbs, upper limbs, and trunk (median PLMS index 61.2; median PLMS index in NREM sleep 61.9; during REM sleep only 8 patients had PLMS and their median PLMS index in REM sleep was 39.5); (2) abnormal behaviors (e.g., punching, groaning) during some of the arousals that immediately followed PLMS in NREM sleep; and (3) ruled out RBD and other sleep disorders such as obstructive sleep apnea. Dopaminergic agents were prescribed in 14 out of the 17 patients and resulted in improvement of abnormal sleep behaviors and unpleasant dreams in all of them. After dopaminergic treatment, follow-up video-polysomnography in 7 patients showed a decrease in the median PLMS index from baseline (108.9 vs. 19.2, p = .002) and absence of abnormal behaviors during the arousals. Abnormal sleep behaviors and unpleasant dreams simulating RBD symptomatology may occur in patients with severe PLMS. In these cases, video-polysomnography ruled out RBD and

  5. Rapid Eye Movement Sleep Behavior Disorder and Other Rapid Eye Movement Sleep Parasomnias.

    Science.gov (United States)

    Högl, Birgit; Iranzo, Alex

    2017-08-01

    The most common rapid eye movement (REM) parasomnia encountered by neurologists is REM sleep behavior disorder (RBD), and nightmares are so frequent that every neurologist should be able to differentiate them from the dream enactment of RBD. Isolated sleep paralysis is relatively common and is often mistaken for other neurologic disorders. This article summarizes the current state of the art in the diagnosis of RBD, discusses the role of specific questionnaires and polysomnography in the diagnosis of RBD, and reviews recent studies on idiopathic RBD as an early feature of a synucleinopathy, secondary RBD, and its management. Recent diagnostic criteria and implications of nightmares and isolated sleep paralysis are also reviewed. Idiopathic RBD can now be considered as part of the prodromal stage of a synucleinopathy. Therefore, an accurate diagnosis is mandatory, and this implies detection of REM sleep without atonia. The polysomnography montage, including EMG of the submentalis and flexor digitorum superficialis muscles, provides a high sensitivity and specificity for the diagnosis. The exact diagnosis is important for patient counseling and for future neuroprotective trials. REM parasomnias include RBD, sleep paralysis, and nightmares, which have distinct clinical characteristics and different implications regarding diagnostic procedures, management, and prognosis.

  6. Diagnosis and treatment of impulse control disorders in patients with movement disorders

    Science.gov (United States)

    Mestre, Tiago A.; Strafella, Antonio P.; Thomsen, Teri; Voon, Valerie

    2013-01-01

    Impulse control disorders are a psychiatric condition characterized by the failure to resist an impulsive act or behavior that may be harmful to self or others. In movement disorders, impulse control disorders are associated with dopaminergic treatment, notably dopamine agonists (DAs). Impulse control disorders have been studied extensively in Parkinson’s disease, but are also recognized in restless leg syndrome and atypical Parkinsonian syndromes. Epidemiological studies suggest younger age, male sex, greater novelty seeking, impulsivity, depression and premorbid impulse control disorders as the most consistent risk factors. Such patients may warrant special monitoring after starting treatment with a DA. Various individual screening tools are available for people without Parkinson’s disease. The Questionnaire for Impulsive-Compulsive Disorders in Parkinson’s Disease has been developed specifically for Parkinson’s disease. The best treatment for impulse control disorders is prevention. However, after the development of impulse control disorders, the mainstay intervention is to reduce or discontinue the offending anti-Parkinsonian medication. In refractory cases, other pharmacological interventions are available, including neuroleptics, antiepileptics, amantadine, antiandrogens, lithium and opioid antagonists. Unfortunately, their use is only supported by case reports, small case series or open-label clinical studies. Prospective, controlled studies are warranted. Ongoing investigations include naltrexone and nicotine. PMID:23634190

  7. Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency

    DEFF Research Database (Denmark)

    Knudsen, Stine; Gammeltoft, Steen; Jennum, Poul J

    2010-01-01

    . Most narcolepsy with cataplexy patients lack the sleep-wake, and rapid eye movement sleep, motor-regulating hypocretin neurons in the lateral hypothalamus. In contrast, rapid eye movement sleep behaviour disorder and hypocretin deficiency are rare in narcolepsy without cataplexy. We hypothesized...... that rapid eye movement sleep behaviour disorder coexists with cataplexy in narcolepsy due to hypocretin deficiency. In our study, rapid eye movement sleep behaviour disorder was diagnosed by the International Classification of Sleep Disorders (2nd edition) criteria in 63 narcolepsy patients with or without...... variables were analysed in relation to cataplexy and hypocretin deficiency with uni- and multivariate logistic/linear regression models, controlling for possible rapid eye movement sleep behaviour disorder biasing factors (age, gender, disease duration, previous anti-cataplexy medication). Only hypocretin...

  8. Seizures and movement disorders induced by hyperglycemia without ketosis in elderly.

    Science.gov (United States)

    Younes, Samia; Cherif, Yousra; Aissi, Mouna; Alaya, Wafa; Berriche, Olfa; Boughammoura, Amel; Frih-Ayed, Mahbouba; Zantour, Baha; Habib Sfar, Mohamed

    2014-07-04

    Non-ketotic hyperglycemia (NKHG) may increase the probability of seizures and movement disorders. We describe a series of 14 elders admitted for seizures and movement disorders linked to NKHG. Twelve patients developed motor seizures and two others movement disorders. Glucose levels varied 9.28 to 32 mmol/l, while osmolarity values varied from 302.28 to 328 mosmol/l. All patients responded well to insulin therapy and four of them needed anti-epileptic drugs. Seizures or movement disorders in elderly with NKHG could be misdiagnosed as neurological diseases. Blood glucose must be audited whenever patients with seizures or movement disorders are encountered, as the condition may quickly resolve when NKHG is controlled.

  9. A Multigenerational Family with Persistent Sleep Related Rhythmic Movement Disorder (RMD) and Insomnia

    Science.gov (United States)

    Attarian, Hrayr; Ward, Norman; Schuman, Catherine

    2009-01-01

    In the International Classification of Sleep Disorders 2nd Edition (ICSD −2), sleep related rhythmic movement disorder (RMD) is classified as a disorder characterized by rhythmic movements of large muscle groups in different parts of the body. These are repetitive, stereotyped, rhythmic motor behaviors that occur predominantly during drowsiness or sleep,and are typically seen in infants and children. Episodes often occur at sleep onset, at any time during the night, and during quiet wakeful activities at a frequency of 0.5–2 sec), lasting rhythmic movement disorder (RMD) and insomnia. J Clin Sleep Med 2009;5(6):571-572. PMID:20465026

  10. Parameterization of movement execution in children with developmental coordination disorder.

    NARCIS (Netherlands)

    Waelvelde, H. van; Weerdt, W. de; Cock, P. de; Janssens, L.; Feys, H.; Engelsman, B.C.M.

    2006-01-01

    The Rhythmic Movement Test (RMT) evaluates temporal and amplitude parameterization and fluency of movement execution in a series of rhythmic arm movements under different sensory conditions. The RMT was used in combination with a jumping and a drawing task, to evaluate 36 children with Developmental

  11. Parameterization of movement execution in children with developmental coordination disorder

    NARCIS (Netherlands)

    Waelvelde, H. van; Weerdt, W. de; Cock, P. de; Janssens, L.; Feys, H.; Smits-Engelsman, B.C.M.

    2006-01-01

    The Rhythmic Movement Test (RMT) evaluates temporal and amplitude parameterization and fluency of movement execution in a series of rhythmic arm movements under different sensory conditions. The RMT was used in combination with a jumping and a drawing task, to evaluate 36 children with Developmental

  12. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

    DEFF Research Database (Denmark)

    Dibbens, Leanne M; Mullen, Saul; Helbig, Ingo

    2009-01-01

    Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We th...

  13. 123-I ioflupane (Datscan) presynaptic nigrostriatal imaging in patients with movement disorders

    International Nuclear Information System (INIS)

    Soriano Castrejon, Angel; Garcia Vicente, Ana Maria; Cortes Romera, Montserrat; Rodado Marina, Sonia; Poblete Garcia, Victor Manuel; Ruiz Solis, Sebastian Ruiz; Talavera Rubio, Maria del Prado; Vaamonde Cano, Julia

    2005-01-01

    123-I Ioflupane (Datscan) presynaptic imaging has been shown to have a significant utility in the assessment of patients with movement disorders 123 I Ioflupane SPECT is able to distinguish between Parkinson's disease (PD) and other forms of parkinsonism without degeneration of the nigrostriatal pathway, including a common movement disorder such as essential tremor, and to assess disease progression in PD and other neuro degenerative disorders involving the substantia nigra. (author)

  14. A Multigenerational Family with Persistent Sleep Related Rhythmic Movement Disorder (RMD) and Insomnia

    OpenAIRE

    Attarian, Hrayr; Ward, Norman; Schuman, Catherine

    2009-01-01

    In the International Classification of Sleep Disorders 2nd Edition (ICSD −2), sleep related rhythmic movement disorder (RMD) is classified as a disorder characterized by rhythmic movements of large muscle groups in different parts of the body. These are repetitive, stereotyped, rhythmic motor behaviors that occur predominantly during drowsiness or sleep,and are typically seen in infants and children. Episodes often occur at sleep onset, at any time during the night, and during quiet wakeful a...

  15. Increasing infection rate in multiple implanted pulse generator changes in movement disorder patients treated with deep brain stimulation

    DEFF Research Database (Denmark)

    Thrane, Jens F; Sunde, Niels A; Bergholt, Bo

    2014-01-01

    Increasing infection rate in multiple implanted pulse generator changes in movement disorder patients treated with deep brain stimulation......Increasing infection rate in multiple implanted pulse generator changes in movement disorder patients treated with deep brain stimulation...

  16. The Moving Rubber Hand Illusion Reveals that Explicit Sense of Agency for Tapping Movements Is Preserved in Functional Movement Disorders

    Directory of Open Access Journals (Sweden)

    Angela Marotta

    2017-06-01

    Full Text Available Functional movement disorders (FMD are characterized by motor symptoms (e.g., tremor, gait disorder, and dystonia that are not compatible with movement abnormalities related to a known organic cause. One key clinical feature of FMD is that motor symptoms are similar to voluntary movements but are subjectively experienced as involuntary by patients. This gap might be related to abnormal self-recognition of bodily action, which involves two main components: sense of agency and sense of body ownership. The aim of this study was to systematically investigate whether this function is altered in FMD, specifically focusing on the subjective feeling of agency, body ownership, and their interaction during normal voluntary movements. Patients with FMD (n = 21 and healthy controls (n = 21 underwent the moving Rubber Hand Illusion (mRHI, in which passive and active movements can differentially elicit agency, ownership or both. Explicit measures of agency and ownership were obtained via a questionnaire. Patients and controls showed a similar pattern of response: when the rubber hand was in a plausible posture, active movements elicited strong agency and ownership; implausible posture of the rubber hand abolished ownership but not agency; passive movements suppressed agency but not ownership. These findings suggest that explicit sense of agency and body ownership are preserved in FMD. The latter finding is shared by a previous study in FMD using a static version of the RHI, whereas the former appears to contrast with studies demonstrating altered implicit measures of agency (e.g., sensory attenuation. Our study extends previous findings by suggesting that in FMD: (i the sense of body ownership is retained also when interacting with the motor system; (ii the subjective experience of agency for voluntary tapping movements, as measured by means of mRHI, is preserved.

  17. Technological advances in the surgical treatment of movement disorders.

    Science.gov (United States)

    Gross, Robert E; McDougal, Margaret E

    2013-08-01

    Technological innovations have driven the advancement of the surgical treatment of movement disorders, from the invention of the stereotactic frame to the adaptation of deep brain stimulation (DBS). Along these lines, this review will describe recent advances in inserting neuromodulation modalities, including DBS, to the target, and in the delivery of therapy at the target. Recent radiological advances are altering the way that DBS leads are targeted and inserted, by refining the ability to visualize the subcortical targets using high-field strength magnetic resonance imaging and other innovations, such as diffusion tensor imaging, and the development of novel targeting devices enabling purely anatomical implantations without the need for neurophysiological monitoring. New portable computed tomography scanners also are facilitating lead implantation without monitoring, as well as improving radiological verification of DBS lead location. Advances in neurophysiological mapping include efforts to develop automatic target verification algorithms, and probabilistic maps to guide target selection. The delivery of therapy at the target is being improved by the development of the next generation of internal pulse generators (IPGs). These include constant current devices that mitigate the variability introduced by impedance changes of the stimulated tissue and, in the near future, devices that deliver novel stimulation patterns with improved efficiency. Closed-loop adaptive IPGs are being tested, which may tailor stimulation to ongoing changes in the nervous system, reflected in biomarkers continuously recorded by the devices. Finer-grained DBS leads, in conjunction with new IPGs and advanced programming tools, may offer improved outcomes via current steering algorithms. Finally, even thermocoagulation-essentially replaced by DBS-is being advanced by new minimally-invasive approaches that may improve this therapy for selected patients in whom it may be preferred. Functional

  18. Chronic Temporomandibular Disorders: disability, pain intensity and fear of movement.

    Science.gov (United States)

    Gil-Martínez, Alfonso; Grande-Alonso, Mónica; López-de-Uralde-Villanueva, Ibai; López-López, Almudena; Fernández-Carnero, Josué; La Touche, Roy

    2016-12-01

    The objective was to compare and correlate disability, pain intensity, the impact of headache on daily life and the fear of movement between subgroups of patients with chronic temporomandibular disorder (TMD). A cross-sectional study was conducted in patients diagnosed with chronic painful TMD. Patients were divided into: 1) joint pain (JP); 2) muscle pain (MP); and 3) mixed pain. The following measures were included: Craniomandibular pain and disability (Craniofacial pain and disability inventory), neck disability (Neck Dsiability Index), pain intensity (Visual Analogue Scale), impact of headache (Headache Impact Test 6) and kinesiophobia (Tampa Scale of Kinesiophobia-11). A total of 154 patients were recruited. The mixed pain group showed significant differences compared with the JP group or MP group in neck disability (p headache (p headache (p < 0.001, d = 1.08). Neck disability was a significant covariate (37 % of variance) of craniomandibular pain and disability for the MP group (β = 0.62; p < 0.001). In the mixed chronic pain group, neck disability (β = 0.40; p < 0.001) and kinesiophobia (β = 0.30; p = 0.03) were significant covariate (33 % of variance) of craniomandibular pain and disability. Mixed chronic pain patients show greater craniomandibular and neck disability than patients diagnosed with chronic JP or MP. Neck disability predicted the variance of craniofacial pain and disability for patients with MP. Neck disability and kinesiophobia predicted the variance of craniofacial pain and disability for those with chronic mixed pain.

  19. Uncommon Applications of Deep Brain Stimulation in Hyperkinetic Movement Disorders

    Science.gov (United States)

    Smith, Kara M.; Spindler, Meredith A.

    2015-01-01

    Background In addition to the established indications of tremor and dystonia, deep brain stimulation (DBS) has been utilized less commonly for several hyperkinetic movement disorders, including medication-refractory myoclonus, ballism, chorea, and Gilles de la Tourette (GTS) and tardive syndromes. Given the lack of adequate controlled trials, it is difficult to translate published reports into clinical use. We summarize the literature, draw conclusions regarding efficacy when possible, and highlight concerns and areas for future study. Methods A Pubmed search was performed for English-language articles between January 1980 and June 2014. Studies were selected if they focused primarily on DBS to treat the conditions of focus. Results We identified 49 cases of DBS for myoclonus-dystonia, 21 for Huntington's disease, 15 for choreacanthocytosis, 129 for GTS, and 73 for tardive syndromes. Bilateral globus pallidus interna (GPi) DBS was the most frequently utilized procedure for all conditions except GTS, in which medial thalamic DBS was more common. While the majority of cases demonstrate some improvement, there are also reports of no improvement or even worsening of symptoms in each condition. The few studies including functional or quality of life outcomes suggest benefit. A limited number of studies included blinded on/off testing. There have been two double-blind controlled trials performed in GTS and a single prospective double-blind, uncontrolled trial in tardive syndromes. Patient characteristics, surgical target, stimulation parameters, and duration of follow-up varied among studies. Discussion Despite these extensive limitations, the literature overall supports the efficacy of DBS in these conditions, in particular GTS and tardive syndromes. For other conditions, the preliminary evidence from small studies is promising and encourages further study. PMID:25713746

  20. Uncommon Applications of Deep Brain Stimulation in Hyperkinetic Movement Disorders

    Directory of Open Access Journals (Sweden)

    Kara M. Smith

    2015-02-01

    Full Text Available Background: In addition to the established indications of tremor and dystonia, deep brain stimulation (DBS has been utilized less commonly for several hyperkinetic movement disorders, including medication-refractory myoclonus, ballism, chorea, and Gilles de la Tourette (GTS and tardive syndromes. Given the lack of adequate controlled trials, it is difficult to translate published reports into clinical use. We summarize the literature, draw conclusions regarding efficacy when possible, and highlight concerns and areas for future study.Methods: A Pubmed search was performed for English-language articles between January 1980 and June 2014. Studies were selected if they focused primarily on DBS to treat the conditions of focus. Results: We identified 49 cases of DBS for myoclonus-dystonia, 21 for Huntington's disease, 15 for choreacanthocytosis, 129 for GTS, and 73 for tardive syndromes. Bilateral globus pallidus interna (GPi DBS was the most frequently utilized procedure for all conditions except GTS, in which medial thalamic DBS was more common. While the majority of cases demonstrate some improvement, there are also reports of no improvement or even worsening of symptoms in each condition. The few studies including functional or quality of life outcomes suggest benefit. A limited number of studies included blinded on/off testing. There have been two double-blind controlled trials performed in GTS and a single prospective double-blind, uncontrolled trial in tardive syndromes. Patient characteristics, surgical target, stimulation parameters, and duration of follow-up varied among studies.Discussion: Despite these extensive limitations, the literature overall supports the efficacy of DBS in these conditions, in particular GTS and tardive syndromes. For other conditions, the preliminary evidence from small studies is promising and encourages further study.

  1. Migratory movements of waterfowl in Central Asia and avian influenza emergence: sporadic transmission of H5N1 from east to west

    Science.gov (United States)

    Iverson, Samuel A.; Gavrilov, Andrei; Katzner, Todd E.; Takekawa, John Y.; Miller, Tricia A.; Hagemeijer, Ward; Mundkur, Taej; Sivananinthaperumal, Balachandran; DeMattos, Carlos C.; Ahmed, Lu'ay S.; Newman, Scott H.

    2011-01-01

    Waterfowl in the genera Anas and Tadorna are suspected as vectors in the long-distance transmission of highly pathogenic avian influenza H5N1. The former Soviet Republics of Central Asia are situated at an important migratory crossroads for these and other species of birds that bridges regions where the disease is prevalent. However, waterfowl movements through Central Asia are poorly quantified. In this study, historical data derived from over 80 years of bird ringing are combined with recent satellite tracking data to delineate migration routes, movement chronology and habitat use patterns of waterfowl in relation to H5N1 outbreak locations. Results confirm migratory linkage between breeding and moulting areas in northern Kazakhstan and southern Siberia, with nonbreeding areas in the Caspian, Black and eastern Mediterranean Sea basins, as well as with South Asia. However, unlike the situation in neighbouring regions, most notably western China, H5N1 outbreaks have not been recurrent in Central Asia after they were first reported during summer 2005 and spring 2006. These findings have implications in relation to potential sampling biases, species-specific variation in migratory behaviour and continuing regional H5N1 transmission risks.

  2. Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Boot, Erik; Butcher, Nancy J.; van Amelsvoort, Thérèse A. M. J.; Lang, Anthony E.; Marras, Connie; Pondal, Margarita; Andrade, Danielle M.; Fung, Wai Lun Alan; Bassett, Anne S.

    2015-01-01

    Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In

  3. Body Movements of Boys with Attention Deficit Hyperactivity Disorder (ADHD) during Computer Video Game Play.

    Science.gov (United States)

    Farrace-DiZinno, Anna Marie; Douglas, Graham; Houghton, Stephen; Lawrence, Vivienne; West, John; Whiting, Ken

    2001-01-01

    Describes a study that recorded the type and severity of body movements of 79 boys with ADHD (attention deficit hyperactivity disorder) and 67 non-ADHD boys while playing a computer video game. Results of multivariate analysis of variance showed no statistically significant differences in body movements between ADHD and non-ADHD boys. (Author/LRW)

  4. Clinical features of Parkinson’s disease with and without rapid eye movement sleep behavior disorder

    OpenAIRE

    Liu, Ye; Zhu, Xiao-Ying; Zhang, Xiao-Jin; Kuo, Sheng-Han; Ondo, William G.; Wu, Yun-Cheng

    2017-01-01

    Background Rapid eye movement sleep behavior disorder (RBD) and Parkinson’s disease (PD) are two distinct clinical diseases but they share some common pathological and anatomical characteristics. This study aims to confirm the clinical features of RBD in Chinese PD patients. Methods One hundred fifty PD patients were enrolled from the Parkinson`s disease and Movement Disorders Center in  Department of Neurology, Shanghai General Hospital from January 2013 to August 2014. This study examined P...

  5. Management of drug-induced movement disorders in psychiatry: an update

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    Sekh Afrar Alam

    2016-07-01

    Full Text Available Drug-induced movement disorders (DIMD represent a variety of iatrogenic and clinically distinct movement disorders, including akathisia, tardive dyskinesia, dystonia, and Parkinsonism. DIMD remain a significant burden especially among certain patient populations receiving psychotropic medication. Knowledge of DIMDs will allow clinicians and healthcare professionals to better identify and manage patients with these conditions. Here we discuss the important features and current practical management steps of different types of DIMD in psychiatry.

  6. Brain perfusion and markers of neurodegeneration in rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Vendette, Mélanie; Gagnon, Jean-François; Soucy, Jean-Paul; Gosselin, Nadia; Postuma, Ronald B; Tuineag, Maria; Godin, Isabelle; Montplaisir, Jacques

    2011-08-01

    Potential early markers of neurodegeneration such as subtle motor signs, reduced color discrimination, olfactory impairment, and brain perfusion abnormalities have been reported in idiopathic rapid eye movement sleep behavior disorder, a risk factor for Parkinson's disease and Lewy body dementia. The aim of this study was to reproduce observations of regional cerebral blood flow abnormalities in a larger independent sample of patients and to explore correlations between regional cerebral blood flow and markers of neurodegeneration. Twenty patients with idiopathic rapid eye movement sleep behavior disorder and 20 healthy controls were studied by single-photon emission computerized tomography. Motor examination, color discrimination, and olfactory identification were examined. Patients with rapid eye movement sleep behavior disorder showed decreased regional cerebral blood flow in the frontal cortex and in medial parietal areas and increased regional cerebral blood flow in subcortical regions including the bilateral pons, putamen, and hippocampus. In rapid eye movement sleep behavior disorder, brain perfusion in the frontal cortex and occipital areas was associated with poorer performance in the color discrimination test. Moreover, a relationship between loss of olfactory discrimination and regional cerebral blood flow reduction in the bilateral anterior parahippocampal gyrus, a region known to be involved in olfactory functions, was found. This study provides further evidence of regional cerebral blood flow abnormalities in rapid eye movement sleep behavior disorder that are similar to those seen in Parkinson's disease and Lewy body dementia. Moreover, regional cerebral blood flow anomalies were associated with markers of neurodegeneration. Copyright © 2011 Movement Disorder Society.

  7. Dance-Like Movements in Obsessive Compulsive Disorder.

    Science.gov (United States)

    Bavle, Amar; Kumar, Kottur; Sharath, Vishwaraj

    2016-01-01

    The presentation of Obsessive Compulsive Disorder (OCD) is sometimes unusual and can mimic other disorders. There are a number of rare and varied manifestations of this disorder, reported in literature. The case reported here, presented with a hitherto unreported symptom; a dance-like compulsion in a case of OCD. This symptom is notable for the influence of cultural environment, on the content of symptom manifestation, in a psychiatric disorder. When one symptom in a disorder presents itself very prominently, the other symptoms, which are less prominent become masked; and need to be elicited by detailed assessment.

  8. Introduction to Sporadic Groups

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    Luis J. Boya

    2011-01-01

    Full Text Available This is an introduction to finite simple groups, in particular sporadic groups, intended for physicists. After a short review of group theory, we enumerate the 1+1+16=18 families of finite simple groups, as an introduction to the sporadic groups. These are described next, in three levels of increasing complexity, plus the six isolated ''pariah'' groups. The (old five Mathieu groups make up the first, smallest order level. The seven groups related to the Leech lattice, including the three Conway groups, constitute the second level. The third and highest level contains the Monster group M, plus seven other related groups. Next a brief mention is made of the remaining six pariah groups, thus completing the 5+7+8+6=26 sporadic groups. The review ends up with a brief discussion of a few of physical applications of finite groups in physics, including a couple of recent examples which use sporadic groups.

  9. Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse AMJ; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

    2015-01-01

    Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. PMID:25684639

  10. Proprioceptive rehabilitation of upper limb dysfunction in movement disorders: a clinical perspective

    Directory of Open Access Journals (Sweden)

    Giovanni eAbbruzzese

    2014-11-01

    Full Text Available Movement disorders are frequently associated with sensory abnormalities. In particular, proprioceptive deficits have been largely documented in both hypokinetic (Parkinson’s disease and hyperkinetic conditions (dystonia suggesting a possible role in their pathophysiology. Proprioceptive feedback is a fundamental component of sensorimotor integration allowing effective planning and execution of voluntary movements. Rehabilitation has become an essential element in the management of patients with movement disorders and there is a strong rationale to include proprioceptive training in rehabilitation protocols focused on mobility problems of the upper limbs. Proprioceptive training is aimed at improving the integration of proprioceptive signals using task intrinsic or augmented feedback. This perspective article reviews the available evidences on the effects of proprioceptive stimulation in improving upper limb mobility in patients with movement disorders and highlights the emerging innovative approaches targeted to maximizing the benefits of exercise by means of enhanced proprioception.

  11. Post-traumatic shoulder movement disorders: A challenging differential diagnosis between organic and functional

    Science.gov (United States)

    Pandey, Sanjay; Nahab, Fatta; Aldred, Jason; Nutt, John; Hallett, Mark

    2014-01-01

    Peripheral trauma may be a trigger for the development of various movement disorders though the pathophysiology remains controversial and some of these patients have a functional (psychogenic) disorder. We report 3 cases of shoulder movement disorders following trauma to the shoulder region. Physiology was done in all the patients to extend the physical examination. Two patients had history of recurrent shoulder dislocation and were diagnosed with Ehlers-Danlos syndrome. One patient had shoulder injury following repeated falls while performing as a cheerleader. In two patients there were some clinical features suggesting a functional etiology, but physiological studies in all three failed to produce objective evidence of a functional nature. Shoulder movement following trauma is uncommon. Diagnosis in such cases is challenging considering the complex pathophysiology. The movements can be associated with prolonged pain and handicap, and once established they appear resistant to treatment. PMID:25197686

  12. Interventions for eye movement disorders due to acquired brain injury.

    Science.gov (United States)

    Rowe, Fiona J; Hanna, Kerry; Evans, Jennifer R; Noonan, Carmel P; Garcia-Finana, Marta; Dodridge, Caroline S; Howard, Claire; Jarvis, Kathryn A; MacDiarmid, Sonia L; Maan, Tallat; North, Lorraine; Rodgers, Helen

    2018-03-05

    Acquired brain injury can cause eye movement disorders which may include: strabismus, gaze deficits and nystagmus, causing visual symptoms of double, blurred or 'juddery' vision and reading difficulties. A wide range of interventions exist that have potential to alleviate or ameliorate these symptoms. There is a need to evaluate the effectiveness of these interventions and the timing of their implementation. We aimed to assess the effectiveness of any intervention and determine the effect of timing of intervention in the treatment of strabismus, gaze deficits and nystagmus due to acquired brain injury. We considered restitutive, substitutive, compensatory or pharmacological interventions separately and compared them to control, placebo, alternative treatment or no treatment for improving ocular alignment or motility (or both). We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (containing the Cochrane Eyes and Vision Trials Register) (2017, Issue 5), MEDLINE Ovid, Embase Ovid, CINAHL EBSCO, AMED Ovid, PsycINFO Ovid, Dissertations & Theses (PQDT) database, PsycBITE (Psychological Database for Brain Impairment Treatment Efficacy), ISRCTN registry, ClinicalTrials.gov, Health Services Research Projects in Progress (HSRProj), National Eye Institute Clinical Studies Database and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP). The databases were last searched on 26 June 2017. No date or language restrictions were used in the electronic searches for trials. We manually searched the Australian Orthoptic Journal, British and Irish Orthoptic Journal, and ESA, ISA and IOA conference proceedings. We contacted researchers active in this field for information about further published or unpublished studies. We included randomised controlled trials (RCTs) of any intervention for ocular alignment or motility deficits (or both) due to acquired brain injury. Two review authors independently selected studies and

  13. Fixing the Mirrors: A Feasibility Study of the Effects of Dance Movement Therapy on Young Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Koch, Sabine C.; Mehl, Laura; Sobanski, Esther; Sieber, Maik; Fuchs, Thomas

    2015-01-01

    From the 1970s on, case studies reported the effectiveness of therapeutic mirroring in movement with children with autism spectrum disorder. In this feasibility study, we tested a dance movement therapy intervention based on mirroring in movement in a population of 31 young adults with autism spectrum disorder (mainly high-functioning and…

  14. Shell Shock: Psychogenic Gait and Other Movement Disorders - A Film Review

    Directory of Open Access Journals (Sweden)

    Mariana Moscovich

    2013-04-01

    Full Text Available Background: The psychological pressure on soldiers during World War I (WWI and other military conflicts has resulted in many reported cases of psychogenic gait as well as other movement disorders. In this paper, psychogenic movement disorders captured in the WWI film footage "War Neuroses" is reanalyzed. Methods: Two movement disorders specialists re-examined film images of 21 WWI patients with various and presumed psychogenic manifestations, pre- and post treatment. The film was recorded by Arthur Hurst, a general physician with an interest in neurology. Results: All 21 subjects were males, and all presented with symptoms relating to war trauma or a psychological stressor (e.g., being buried, shrapnel wounds, concussion, or trench fever. The most common presenting feature was a gait disorder, either pure or mixed with another movement disorder (15, followed by retrograde amnesia (2, abnormal postures (pure dystonia (1, facial spasm (1, head tremor (1, "hyperthyroidism-hyperadrenalism" (1. Nineteen patients received treatment, and the treatment was identified in nine cases. In most cases, treatment was short and patients improved almost immediately. Occupational therapy was the most common treatment. Other effective methods were hypnosis (1, relaxation (1, passive movements (2, and probable "persuasion and re-education" (6. Discussion: The high success rate in treating psychogenic disorders in Hurst's film would be considered impressive by modern standards, and has raised doubt in recent years as to whether parts of the film were staged and/or acted.

  15. Subjective sleep quality and suggested immobilization test in restless leg syndrome and periodic limb movement disorder.

    Science.gov (United States)

    Inoue, Yuichi; Nanba, Kazuyoshi; Honda, Yutaka; Takahashi, Yasuro; Arai, Heii

    2002-06-01

    The severity of restless leg syndrome (RLS) and/or periodic limb movement disorder (PLMD) was investigated by using a suggested immobilization test (SIT) and by measuring the influence of these disorders on the subjective sleep quality as assessed by the Pittsburgh Sleep Quality Index (PSQI). Patients with RLS and those with both RLS and PLMD showed remarkably high values for PSQI and SIT, whereas patients with PLMD only showed normal values for PSQI. These findings suggest that there is only a small pathological significance for periodic limb movements, and demonstrate the efficacy of SIT and PSQI for evaluating the severity of these disorders.

  16. Review of the possible relationship and hypothetical links between attention deficit hyperactivity disorder (ADHD) and the simple sleep related movement disorders, parasomnias, hypersomnias, and circadian rhythm disorders.

    Science.gov (United States)

    Walters, Arthur S; Silvestri, Rosalia; Zucconi, Marco; Chandrashekariah, Ranju; Konofal, Eric

    2008-12-15

    Recent evidence has been accumulating that the sleep of individuals with attention deficit hyperactivity disorder (ADHD) is not only disrupted in a nonspecific way but that ADHD has an increased association with simple sleep related movement disorders such as restless legs syndrome/periodic limb movements in sleep (RLS/PLMS), rhythmic movement disorder (body rocking and head banging), and parasomnias, such as disorders of partial arousal (sleep walking, sleep terrors, and confusional arousals). In addition increased associations have been reported between ADHD and hypersomnias such as narcolepsy and sleep apnea as well as circadian rhythm disorders, such as delayed sleep phase syndrome. These relationships are reviewed and the implications for such associations are explored. Patients with sleep disorders should be queried about the symptoms of ADHD and vice versa.

  17. Quality of life in patients with an idiopathic rapid eye movement sleep behaviour disorder in Korea.

    Science.gov (United States)

    Kim, Keun Tae; Motamedi, Gholam K; Cho, Yong Won

    2017-08-01

    There have been few quality of life studies in patients with idiopathic rapid eye movement sleep behaviour disorder. We compared the quality of life in idiopathic rapid eye movement sleep behaviour disorder patients to healthy controls, patients with hypertension, type 2 diabetes mellitus without complication and idiopathic restless legs syndrome. Sixty patients with idiopathic rapid eye movement sleep behaviour disorder (24 female; mean age: 61.43 ± 8.99) were enrolled retrospectively. The diagnosis was established based on sleep history, overnight polysomnography, neurological examination and Mini-Mental State Examination to exclude secondary rapid eye movement sleep behavior disorder. All subjects completed questionnaires, including the Short Form 36-item Health Survey for quality of life. The total quality of life score in idiopathic rapid eye movement sleep behaviour disorder (70.63 ± 20.83) was lower than in the healthy control group (83.38 ± 7.96) but higher than in the hypertension (60.55 ± 24.82), diabetes mellitus (62.42 ± 19.37) and restless legs syndrome (61.77 ± 19.25) groups. The total score of idiopathic rapid eye movement sleep behaviour disorder patients had a negative correlation with the Pittsburg Sleep Quality Index (r = -0.498, P sleep behaviour disorder had a significant negative impact on quality of life, although this effect was less than that of other chronic disorders. This negative effect might be related to a depressive mood associated with the disease. © 2016 European Sleep Research Society.

  18. The Neuropsychiatry of Hyperkinetic Movement Disorders: Insights from Neuroimaging into the Neural Circuit Bases of Dysfunction

    Directory of Open Access Journals (Sweden)

    Bradleigh D. Hayhow

    2013-09-01

    Full Text Available Background: Movement disorders, particularly those associated with basal ganglia disease, have a high rate of comorbid neuropsychiatric illness.Methods: We consider the pathophysiological basis of the comorbidity between movement disorders and neuropsychiatric illness by 1 reviewing the epidemiology of neuropsychiatric illness in a range of hyperkinetic movement disorders, and 2 correlating findings to evidence from studies that have utilized modern neuroimaging techniques to investigate these disorders. In addition to diseases classically associated with basal ganglia pathology, such as Huntington disease, Wilson disease, the neuroacanthocytoses, and diseases of brain iron accumulation, we include diseases associated with pathology of subcortical white matter tracts, brain stem nuclei, and the cerebellum, such as metachromatic leukodystrophy, dentatorubropallidoluysian atrophy, and the spinocerebellar ataxias.Conclusions: Neuropsychiatric symptoms are integral to a thorough phenomenological account of hyperkinetic movement disorders. Drawing on modern theories of cortico-subcortical circuits, we argue that these disorders can be conceptualized as disorders of complex subcortical networks with distinct functional architectures. Damage to any component of these complex information-processing networks can have variable and often profound consequences for the function of more remote neural structures, creating a diverse but nonetheless rational pattern of clinical symptomatology.

  19. More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

    Science.gov (United States)

    Pearson, Toni S.

    2016-01-01

    Background The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. Hyperkinetic movement disorders occur in a significant proportion of patients, and may sometimes be the presenting motor symptom. Presentations with involuntary movements rather than ataxia are diagnostically challenging, and are likely under-recognized. Methods A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia–telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus). Results Involuntary movements occur in the majority of patients with ataxia–telangiectasia and AOA1, and less frequently in patients with AOA2, Friedreich ataxia, and ataxia with vitamin E deficiency. Clinical presentations with an isolated hyperkinetic movement disorder in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia–telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia). Discussion An awareness of atypical presentations facilitates early and accurate diagnosis in these challenging cases. Recognition of involuntary movements is important not only for diagnosis, but also because of the potential for effective targeted symptomatic treatment. PMID:27536460

  20. Impaired sense of agency in functional movement disorders: An fMRI study.

    Directory of Open Access Journals (Sweden)

    Fatta B Nahab

    Full Text Available The sense of agency (SA is an established framework that refers to our ability to exert and perceive control over our own actions. Having an intact SA provides the basis for the human perception of voluntariness, while impairments in SA are hypothesized to lead to the perception of movements being involuntary that may be seen many neurological or psychiatric disorders. Individuals with functional movement disorders (FMD experience a lack of control over their movements, yet these movements appear voluntary by physiology. We used fMRI to explore whether alterations in SA in an FMD population could explain why these patients feel their movements are involuntary. We compared the FMD group to a control group that was previously collected using an ecologically valid, virtual-reality movement paradigm that could modulate SA. We found selective dysfunction of the SA neural network, whereby the dorsolateral prefrontal cortex and pre-supplementary motor area on the right did not respond differentially to the loss of movement control. These findings provide some of the strongest evidence to date for a physiological basis underlying these disabling disorders.

  1. The coeruleus/subcoeruleus complex in idiopathic rapid eye movement sleep behaviour disorder.

    Science.gov (United States)

    Ehrminger, Mickael; Latimier, Alice; Pyatigorskaya, Nadya; Garcia-Lorenzo, Daniel; Leu-Semenescu, Smaranda; Vidailhet, Marie; Lehericy, Stéphane; Arnulf, Isabelle

    2016-04-01

    Idiopathic rapid eye movement sleep behaviour disorder is characterized by nocturnal violence, increased muscle tone during rapid eye movement sleep and the lack of any other neurological disease. However, idiopathic rapid eye movement sleep behaviour disorder can precede parkinsonism and dementia by several years. Using 3 T magnetic resonance imaging and neuromelanin-sensitive sequences, we previously found that the signal intensity was reduced in the locus coeruleus/subcoeruleus area of patients with Parkinson's disease and rapid eye movement sleep behaviour disorder. Here, we studied the integrity of the locus coeruleus/subcoeruleus complex with neuromelanin-sensitive imaging in 21 patients with idiopathic rapid eye movement sleep behaviour disorder and compared the results with those from 21 age- and gender-matched healthy volunteers. All subjects underwent a clinical examination, motor, cognitive, autonomous, psychological, olfactory and colour vision tests, and rapid eye movement sleep characterization using video-polysomnography and 3 T magnetic resonance imaging. The patients more frequently had preclinical markers of alpha-synucleinopathies, including constipation, olfactory deficits, orthostatic hypotension, and subtle motor impairment. Using neuromelanin-sensitive imaging, reduced signal intensity was identified in the locus coeruleus/subcoeruleus complex of the patients with idiopathic rapid eye movement sleep behaviour. The mean sensitivity of the visual analyses of the signal performed by neuroradiologists who were blind to the clinical diagnoses was 82.5%, and the specificity was 81% for the identification of idiopathic rapid eye movement sleep behaviour. The results confirm that this complex is affected in idiopathic rapid eye movement sleep behaviour (to the same degree as it is affected in Parkinson's disease). Neuromelanin-sensitive imaging provides an early marker of non-dopaminergic alpha-synucleinopathy that can be detected on an individual

  2. Disrupted rapid eye movement sleep predicts poor declarative memory performance in post-traumatic stress disorder.

    Science.gov (United States)

    Lipinska, Malgorzata; Timol, Ridwana; Kaminer, Debra; Thomas, Kevin G F

    2014-06-01

    Successful memory consolidation during sleep depends on healthy slow-wave and rapid eye movement sleep, and on successful transition across sleep stages. In post-traumatic stress disorder, sleep is disrupted and memory is impaired, but relations between these two variables in the psychiatric condition remain unexplored. We examined whether disrupted sleep, and consequent disrupted memory consolidation, is a mechanism underlying declarative memory deficits in post-traumatic stress disorder. We recruited three matched groups of participants: post-traumatic stress disorder (n = 16); trauma-exposed non-post-traumatic stress disorder (n = 15); and healthy control (n = 14). They completed memory tasks before and after 8 h of sleep. We measured sleep variables using sleep-adapted electroencephalography. Post-traumatic stress disorder-diagnosed participants experienced significantly less sleep efficiency and rapid eye movement sleep percentage, and experienced more awakenings and wake percentage in the second half of the night than did participants in the other two groups. After sleep, post-traumatic stress disorder-diagnosed participants retained significantly less information on a declarative memory task than controls. Rapid eye movement percentage, wake percentage and sleep efficiency correlated with retention of information over the night. Furthermore, lower rapid eye movement percentage predicted poorer retention in post-traumatic stress disorder-diagnosed individuals. Our results suggest that declarative memory consolidation is disrupted during sleep in post-traumatic stress disorder. These data are consistent with theories suggesting that sleep benefits memory consolidation via predictable neurobiological mechanisms, and that rapid eye movement disruption is more than a symptom of post-traumatic stress disorder. © 2014 European Sleep Research Society.

  3. Telemedicine Enables Broader Access to Movement Disorders Curricula for Medical Students

    Science.gov (United States)

    Cubo, Esther; Doumbe, Jacques; López, Emiliano; Lopez, Guadalupe A.; Gatto, Emilia; Persi, Gabriel; Guttman, Mark

    2017-01-01

    Background The impact of tele-education for movement disorders on medical students is unknown. The present study had three objectives. First, to create a tele-education program for medical students in regions with limited access to movement disorders curricula. Second, to analyze the feasibility, satisfaction, and improvement of medical knowledge. Third, to assess the main reasons of medical students for attending this course. Methods In 2016, a program was piloted in a low-middle income (Cameroon) and a middle-high income (Argentina) country. Medical students were offered a free movement disorder tele-education program (four medical schools in Argentina, and 1 medical school in Cameroon). Six real-time videoconferences covering hyperkinetic and hypokinetic movement disorders were included. Evaluations included attendance, pre- and post-medical knowledge, and satisfaction questionnaires. Results The study included 151 undergraduate medical students (79.4% from Argentina, 20.6% from Cameroon). Feasibility was acceptable with 100% and 85.7% of the videoconferences completed in Argentina and Cameroon, respectively. Attendance was higher in Argentina compared to Cameroon (75% vs. 33.1%). According to student reports, the topics and innovative educational environment were the main reasons for attendance. Both groups ranked satisfaction as moderate to high, and medical knowledge improved similarly in both countries. Discussion Tele-education can improve movement disorders knowledge in medical schools in high-middle and low-middle income countries lacking access to other educational opportunities. PMID:29123943

  4. Neuropsychological profile of psychogenic jerky movement disorders : Importance of evaluating non-credible cognitive performance and psychopathology

    NARCIS (Netherlands)

    Heintz, Carolien E. J.; van Tricht, Mirjam J.; van der Salm, Sandra M. A.; van Rootselaar, A. F.; Cath, Danielle; Schmand, Ben; Tijssen, Marina A. J.

    2013-01-01

    Background Psychogenic movement disorders are disorders of movements that cannot be explained by a known neurological disorder and are assumed to be associated with psychiatric symptoms such as depression and anxiety. Objective To examine the neuropsychological profile of patients with psychogenic

  5. Neuropsychological profile of psychogenic jerky movement disorders: importance of evaluating non-credible cognitive performance and psychopathology

    NARCIS (Netherlands)

    Heintz, Carolien E. J.; van Tricht, Mirjam J.; van der Salm, Sandra M. A.; van Rootselaar, A. F.; Cath, Danielle; Schmand, Ben; Tijssen, Marina A. J.

    2013-01-01

    Background Psychogenic movement disorders are disorders of movements that cannot be explained by a known neurological disorder and are assumed to be associated with psychiatric symptoms such as depression and anxiety. Objective To examine the neuropsychological profile of patients with psychogenic

  6. Neuropsychological profile of psychogenic jerky movement disorders: Importance of evaluating non-credible cognitive performance and psychopathology

    NARCIS (Netherlands)

    Heintz, C.E.J.; van Tricht, M.J.; van der Salm, S.M.A.; van Rootselaar, A.F.; Cath, D.; Schmand, B.; Tijssen, M.A.J.

    2013-01-01

    Background: Psychogenic movement disorders are disorders of movements that cannot be explained by a known neurological disorder and are assumed to be associated with psychiatric symptoms such as depression and anxiety. Objective: To examine the neuropsychological profile of patients with psychogenic

  7. Stiff person syndrome and other immune-mediated movement disorders - new insights.

    Science.gov (United States)

    Balint, Bettina; Bhatia, Kailash P

    2016-08-01

    This review highlights the recent developments in immune-mediated movement disorders and how they reflect on clinical practice and our understanding of the underlying pathophysiological mechanisms. The antibody spectrum associated with stiff person syndrome and related disorders (SPSD) has broadened and, apart from the classic glutamic acid decarboxylase (GAD)- and amphiphysin-antibodies, includes now also antibodies against dipeptidyl-peptidase-like protein-6 (DPPX), gamma-aminobutyric acid type A receptor (GABAAR), glycine receptor (GlyR) and glycine transporter 2 (GlyT2). The field of movement disorders with neuronal antibodies keeps expanding with the discovery for example of antibodies against leucine rich glioma inactivated protein 1 (LGI1) and contactin associated protein 2 (Caspr2) in chorea, or antibodies targeting ARHGAP26- or Na/K ATPase alpha 3 subunit (ATP1A3) in cerebellar ataxia. Moreover, neuronal antibodies may partly account for movement disorders attributed for example to Sydenham's chorea, coeliac disease, or steroid responsive encephalopathy with thyroid antibodies. Lastly, there is an interface of immunology, genetics and neurodegeneration, e.g. in Aicardi-Goutières syndrome or the tauopathy with IgLON5-antibodies. Clinicians should be aware of new antibodies such as dipeptidyl-peptidase-like protein-6, gamma-aminobutyric acid type A receptor and glycine transporter 2 in stiff person syndrome and related disorders, as well as of the expanding spectrum of immune-mediated movement disorders.

  8. Deep Brain Stimulation for Movement Disorders of Basal Ganglia Origin: Restoring Function or Functionality?

    Science.gov (United States)

    Wichmann, Thomas; DeLong, Mahlon R

    2016-04-01

    Deep brain stimulation (DBS) is highly effective for both hypo- and hyperkinetic movement disorders of basal ganglia origin. The clinical use of DBS is, in part, empiric, based on the experience with prior surgical ablative therapies for these disorders, and, in part, driven by scientific discoveries made decades ago. In this review, we consider anatomical and functional concepts of the basal ganglia relevant to our understanding of DBS mechanisms, as well as our current understanding of the pathophysiology of two of the most commonly DBS-treated conditions, Parkinson's disease and dystonia. Finally, we discuss the proposed mechanism(s) of action of DBS in restoring function in patients with movement disorders. The signs and symptoms of the various disorders appear to result from signature disordered activity in the basal ganglia output, which disrupts the activity in thalamocortical and brainstem networks. The available evidence suggests that the effects of DBS are strongly dependent on targeting sensorimotor portions of specific nodes of the basal ganglia-thalamocortical motor circuit, that is, the subthalamic nucleus and the internal segment of the globus pallidus. There is little evidence to suggest that DBS in patients with movement disorders restores normal basal ganglia functions (e.g., their role in movement or reinforcement learning). Instead, it appears that high-frequency DBS replaces the abnormal basal ganglia output with a more tolerable pattern, which helps to restore the functionality of downstream networks.

  9. Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology.

    Science.gov (United States)

    Balint, Bettina; Vincent, Angela; Meinck, Hans-Michael; Irani, Sarosh R; Bhatia, Kailash P

    2018-01-01

    Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies. There are also less-recognized movement disorder presentations of antibody-related disease, and a considerable overlap between the clinical phenotypes and the associated antibody spectra. In this review, we first describe the antibodies associated with each syndrome, highlight distinctive clinical or radiological 'red flags', and suggest a syndromic approach based on the predominant movement disorder presentation, age, and associated features. We then examine the underlying immunopathophysiology, which may guide treatment decisions in these neuroimmunological disorders, and highlight the exceptional interface between neuronal antibodies and neurodegeneration, such as the tauopathy associated with IgLON5 antibodies. Moreover, we elaborate the emerging pathophysiological parallels between genetic movement disorders and immunological conditions, with proteins being either affected by mutations or targeted by autoantibodies. Hereditary hyperekplexia, for example, is caused by mutations of the alpha subunit of the glycine receptor leading to an infantile-onset disorder with exaggerated startle and stiffness, whereas antibodies targeting glycine receptors can induce acquired hyperekplexia. The spectrum of such immunological and genetic analogies also includes cerebellar ataxias and some encephalopathies. Lastly, we discuss how these pathophysiological considerations could

  10. Kalman Smoothing and Wavelet Analysis for Inertial Data of Human Movement Disorder Motion

    Directory of Open Access Journals (Sweden)

    Wesley TESKEY

    2010-05-01

    Full Text Available Human movement disorders examined include essential tremor and Parkinson’s disease; both disorders feature possible uncontrollable tremor. In most literature, limited numbers of inertial sensors (accelerometers and gyroscopes are used when examining movement disorder subjects for purposes of diagnosis and attenuation (active mitigation and consequently a full rendering of motion (and tremor for subjects is not possible. The examination carried out for this work utilizes six inertial sensors capable of rendering all six degrees-of-freedom of motion with the assistance of Kalman smoothing. Because of this full rendering of motion, movement patterns largely unexamined by other researchers are visible. Key findings are that the measured frequency content of motion (displayed using wavelets is largely unaffected by the axis of measurement or by whether lateral or rotational motion is being measured, as well, accelerometers are largely unaffected by rotational tremor even though some measured frequency content would be expected due to gravity’s influence.

  11. Coping Strategies and IQ in Psychogenic Movement Disorders and Paralysis

    NARCIS (Netherlands)

    van Beilen, M.; Griffioen, Brecht T.; Leenders, Klaus L.

    2009-01-01

    Inadequate coping strategies may cause some patients to develop psychogenic symptoms in periods of stress. This may be more prominent in patients with lower intelligence levels. Twenty-six patients with psychogenic neurological disorders (PND) were tested for coping abilities and intelligence and

  12. Movement disorders associated with focal midbrain lesion: correlation with clinical and I-123 IPT SPECT findings

    International Nuclear Information System (INIS)

    Kang, Ji Hoon; Im, Joo Hyuk; Kim, Jae Seung; Lee, Myoung Chong

    2001-01-01

    Midbrain lesion may produce a variety of movement disorders including tremor, dystonia, and parkinsonism. The anatomical and functional basis of the movement disorder associated with the midbrain lesion is still unclear. The purpose of this study was to correlate focal midbrain lesions with clinical and I-123 IPT SPECT findings. Five patients (aged 25 to 69 years, 3 men and 2 women) who presented with movement disorder associated with discrete focal midbrain lesion on the brain MRI were included. We reviewed the clinical characteristics of movement disorders and the brain MRI findings in all patients. I-123 IPT SPECT was performed in all patients and 9 normal controls to evaluate the integrity of the nigrostriatal dopaminergic system and specific binding ratios were also calculated. Patients consisted of 2 with parkinsonism, 1 with midbrain tremor, 1 with hemidystonia, and 1 with micrographia as the only manifestation. In all patients, movement disorders were confined to the limbs contralateral to the focal midbrain lesions. The causes of midbrain lesion were trauma (n=2), rupture of AVM (n=1), cerebral infarction (n=1), and encephalitis (n=1). The latency between the midbrain injury and the onset of movement disorder varied from 1.5 months to 2 years (mean 6.7 months). Specific binding ratios of ipsilateral striatum (1.6±1.4) were significantly lower than that of contralateral side (3.3±0.99) and normal control (3.5±0.5)(p<0.05). All of six patients had lesions involving substantia nigra on MRI and two of these with resting tremor had also lesions involving the red nucleus. Bradykinesia and rigidity were mild or absent in these two patients, despite severely decreased specific binding ratios (mean 0.55) of ipsilateral striatum. Movement disorders associated with focal midbrain lesion were partially related to the damage in the nigrostriatal dopaminergic system. However, the severity and nature of movement disorder were variable and not directly related to the

  13. Rapid eye movement sleep behavior disorder as an outlier detection problem

    DEFF Research Database (Denmark)

    Kempfner, Jacob; Sørensen, Gertrud Laura; Nikolic, M.

    2014-01-01

    OBJECTIVE: Idiopathic rapid eye movement (REM) sleep behavior disorder is a strong early marker of Parkinson's disease and is characterized by REM sleep without atonia and/or dream enactment. Because these measures are subject to individual interpretation, there is consequently need for quantitat......OBJECTIVE: Idiopathic rapid eye movement (REM) sleep behavior disorder is a strong early marker of Parkinson's disease and is characterized by REM sleep without atonia and/or dream enactment. Because these measures are subject to individual interpretation, there is consequently need...

  14. Long-stay psychiatric patients: a prospective study revealing persistent antipsychotic-induced movement disorder.

    Directory of Open Access Journals (Sweden)

    P Roberto Bakker

    Full Text Available OBJECTIVE: The purpose of this study was to assess the frequency of persistent drug-induced movement disorders namely, tardive dyskinesia (TD, parkinsonism, akathisia and tardive dystonia in a representative sample of long-stay patients with chronic severe mental illness. METHOD: Naturalistic study of 209, mainly white, antipsychotic-treated patients, mostly diagnosed with psychotic disorder. Of this group, the same rater examined 194 patients at least two times over a 4-year period, with a mean follow-up time of 1.1 years, with validated scales for TD, parkinsonism, akathisia, and tardive dystonia. RESULTS: The frequencies of persistent movement disorders in the sample were 28.4% for TD, 56.2% for parkinsonism, 4.6% for akathisia and 5.7% for tardive dystonia. Two-thirds of the participants displayed at least one type of persistent movement disorder. CONCLUSIONS: Persistent movement disorder continues to be the norm for long-stay patients with chronic mental illness and long-term antipsychotic treatment. Measures are required to remedy this situation.

  15. Characteristics of rapid eye movement sleep behavior disorder in narcolepsy

    DEFF Research Database (Denmark)

    Jennum, Poul Jørgen; Frandsen, Rune Asger Vestergaard; Knudsen, Stine

    2013-01-01

    with narcolepsy with cataplexy lack the hypocretin neurons in the lateral hypothalamus. In contrast, RBD, RSWA, and hypocretin deficiency are rare in narcolepsy without cataplexy. Phasic motor activity in REM and non-REM (NREM) and dream-enacting behavior (RBD) coexist with cataplexy in narcolepsy because...... of hypocretin deficiency. Thus, hypocretin deficiency is linked to the two major disturbances of REM sleep motor regulation in narcolepsy: RBD and cataplexy. Moreover, it is likely that hypocretin deficiency independently predicts periodic limb movements in REM and NREM sleep, probably via involvement...... of the dopaminergic system. This supports the hypothesis that an impaired hypocretin system causes general instability of motor regulation during wakefulness, REM and NREM sleep in human narcolepsy. We propose that hypocretin neurons are centrally involved in motor tone control during wakefulness and sleep in humans...

  16. Investigating rapid eye movement sleep without atonia in Parkinson's disease using the rapid eye movement sleep behavior disorder screening questionnaire.

    Science.gov (United States)

    Bolitho, Samuel J; Naismith, Sharon L; Terpening, Zoe; Grunstein, Ron R; Melehan, Kerri; Yee, Brendon J; Coeytaux, Alessandra; Gilat, Moran; Lewis, Simon J G

    2014-05-01

    Rapid eye movement (REM) sleep behavior disorder (RBD) is frequently observed in patients with Parkinson's disease (PD). Accurate diagnosis is essential for managing this condition. Furthermore, the emergence of idiopathic RBD in later life can represent a premotor feature, heralding the development of PD. Reliable, accurate methods for identifying RBD may offer a window for early intervention. This study sought to identify whether the RBD screening questionnaire (RBDSQ) and three questionnaires focused on dream enactment were able to correctly identify patients with REM without atonia (RWA), the neurophysiological hallmark of RBD. Forty-six patients with PD underwent neurological and sleep assessment in addition to completing the RBDSQ, the RBD single question (RBD1Q), and the Mayo Sleep Questionnaire (MSQ). The REM atonia index was derived for all participants as an objective measure of RWA. Patients identified to be RBD positive on the RBDSQ did not show increased RWA on polysomnography (80% sensitivity and 55% specificity). However, patients positive for RBD on questionnaires specific to dream enactment correctly identified higher degrees of RWA and improved the diagnostic accuracy of these questionnaires. This study suggests that the RBDSQ does not accurately identify RWA, essential for diagnosing RBD in PD. Furthermore, the results suggest that self-report measures of RBD need to focus questions on dream enactment behavior to better identify RWA and RBD. Further studies are needed to develop accurate determination and quantification of RWA in RBD to improve management of patients with PD in the future. © 2014 International Parkinson and Movement Disorder Society.

  17. A single-question screen for rapid eye movement sleep behavior disorder

    DEFF Research Database (Denmark)

    Postuma, Ronald B; Arnulf, Isabelle; Hogl, Birgit

    2012-01-01

    Idiopathic rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia that is an important risk factor for Parkinson's disease (PD) and Lewy body dementia. Its prevalence is unknown. One barrier to determining prevalence is that current screening tools are too long for large......-scale epidemiologic surveys. Therefore, we designed the REM Sleep Behavior Disorder Single-Question Screen (RBD1Q), a screening question for dream enactment with a simple yes/no response....

  18. MRI in movement disorder patients: 'hot cross bun' sign

    International Nuclear Information System (INIS)

    Koh, Seong Beom; Kim, Byung Jo; Park, Min Kyu; Park, Kun Woo; Lee, Nam Joon; Lee, Dae Hie

    2003-01-01

    Clinically, multiple system atrophy is difficult to differentiate from other basal ganglia disorders such as idiopathic Parkinson's disease or other types of cerebellar ataxia. The 'hot cross bun' sign is a radiological sign which, it has been claimed, is highly specific for multiple system atrophy, and we describe four cases in which this sign occurred. In one patient, multiple system atrophy was clinically diagnosed, but in the other three, the respective clinical diagnosis was spinocerebellar ataxia type 1, type 2 (genetically), and old cerebellar hemorrhage. We therefore suggest that the hot cross bun sign reflects degeneration of transverse pontocerebellar fibers and is not a pathognomic sign of multiple system atrophy

  19. Electrophysiological and behavioral measures of visuo-motor learning for application in movement disorders.

    Science.gov (United States)

    Quinlivan, Brendan T; Butler, John S; Hutchinson, Michael K; O'Riordan, Sean; Ridwan, Raquib A; Reilly, Richard B

    2014-01-01

    Dystonia is the third most common movement disorder worldwide and drastically reduces the quality of life of those who are affected. Despite its prevalence, very little is known about the underlying pathology of the disorder. Recent literature has suggested that abnormal processing in the superior colliculus (SC) may play a role in Dystonia. The SC is known to be an important hub in the neural network that is used when learning a novel movement and therefore we would postulate that a disorder of SC should result in abnormal movement learning. Here 9 participants completed learning and non-learning movement tasks while behavioural and electrophysiological data were acquired. The results of this study show that there is a significant relationship between the behavioural and electrophysiological data (R(2) = 0.19, F(1, 46) =10.88, p learning task but not in the non-learning task (p > 0.05). The developed paradigm is ideally suited for probing the underlying pathology of Dystonia via movement learning.

  20. Rapid eye movement sleep behavior disorder--diagnostik, årsager og behandling

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle; Jennum, Poul Jørgen

    2009-01-01

    Rapid eye movement (REM) sleep behaviour disorder (RBD) is characterized by loss of REM sleep and related electromyographic atonia with marked muscular activity and dream enactment behaviour. RBD is seen in 0.5% of the population. It occurs in an idiopathic form and secondarily to medical and neu...

  1. Arm and Hand Movement in Children Suspected of Having Autism Spectrum Disorder

    Science.gov (United States)

    Braddock, Barbara A.; Hilton, Jane C.

    2016-01-01

    The aim of this study was to describe arm and hand movement in children suspected of having autism spectrum disorder (ASD; age range 29-43 months). A videotaped retrospective review of five children with symptoms of ASD during "Communication Temptation Tasks" was completed at two time points (pre-testing and 6 weeks later). Categories of…

  2. Acute movement disorder with bilateral basal ganglia lesions in diabetic uremia

    Directory of Open Access Journals (Sweden)

    Gurusidheshwar M Wali

    2011-01-01

    Full Text Available Acute movement disorder associated with symmetrical basal ganglia lesions occurring in the background of diabetic end stage renal disease is a recently described condition. It has distinct clinico-radiological features and is commonly described in Asian patients. We report the first Indian case report of this potentially reversible condition and discuss its various clinico-radiological aspects.

  3. Stability and composition of functional synergies for speech movements in children with developmental speech disorders

    NARCIS (Netherlands)

    Terband, H.R.; Maassen, B.A.M.; Lieshout, P. van; Nijland, L.

    2011-01-01

    The aim of this study was to investigate the consistency and composition of functional synergies for speech movements in children with developmental speech disorders. Kinematic data were collected on the reiterated productions of syllables spa(/spa/) and paas(/pas/) by 10 6- to 9-year-olds with

  4. The gap between clinical gaze and systematic assessment of movement disorders after stroke

    NARCIS (Netherlands)

    Van der Krogt, H.J.M.; Meskers, C.G.M.; De Groot, J.H.; Klomp, A.; Arendzen, J.H.

    2012-01-01

    Background: Movement disorders after stroke are still captured by clinical gaze and translated to ordinal scores of low resolution. There is a clear need for objective quantification, with outcome measures related to pathophysiological background. Neural and non-neural contributors to joint behavior

  5. Stability and composition of functional synergies for speech movements in children with developmental speech disorders

    NARCIS (Netherlands)

    Terband, H.; Maassen, B.; van Lieshout, P.; Nijland, L.

    2011-01-01

    The aim of this study was to investigate the consistency and composition of functional synergies for speech movements in children with developmental speech disorders. Kinematic data were collected on the reiterated productions of syllables spa (/spa:/) and paas (/pa:s/) by 10 6- to 9-year-olds with

  6. Extrastriatal monoaminergic dysfunction and enhanced microglial activation in idiopathic rapid eye movement sleep behaviour disorder

    DEFF Research Database (Denmark)

    Stokholm, Morten Gersel; Iranzo, Alex; Østergaard, Karen

    2018-01-01

    BACKGROUND: The majority of patients diagnosed with idiopathic rapid eye movement sleep behaviour disorder (iRBD) progress over time to a Lewy-type α-synucleinopathy such as Parkinson's disease or dementia with Lewy bodies. This in vivo molecular imaging study aimed to investigate if extrastriata...

  7. Eye-Movement Patterns Are Associated with Communicative Competence in Autistic Spectrum Disorders

    Science.gov (United States)

    Norbury, Courtenay Frazier; Brock, Jon; Cragg, Lucy; Einav, Shiri; Griffiths, Helen; Nation, Kate

    2009-01-01

    Background: Investigations using eye-tracking have reported reduced fixations to salient social cues such as eyes when participants with autism spectrum disorders (ASD) view social scenes. However, these studies have not distinguished different cognitive phenotypes. Methods: The eye-movements of 28 teenagers with ASD and 18 typically developing…

  8. A feasibility study of conducting the Montreal Cognitive Assessment remotely in individuals with movement disorders.

    Science.gov (United States)

    Abdolahi, Amir; Bull, Michael T; Darwin, Kristin C; Venkataraman, Venayak; Grana, Matthew J; Dorsey, E Ray; Biglan, Kevin M

    2016-06-01

    Remote assessments of individuals with a neurological disease via telemedicine have the potential to reduce some of the burdens associated with clinical care and research participation. We aim to evaluate the feasibility of conducting the Montreal Cognitive Assessment remotely in individuals with movement disorders. A pilot study derived from two telemedicine trials was conducted. In total, 17 individuals with movement disorders (8 with Parkinson disease and 9 with Huntington disease) had Montreal Cognitive Assessment examinations evaluated in-person and remotely via web-based video conferencing to primarily determine feasibility and potential barriers in its remote administration. Administering the Montreal Cognitive Assessment remotely in a sample of movement disorder patients with mild cognitive impairment is feasible, with only minor common complications associated with technology, including delayed sound and corrupted imaging for participants with low connection speeds. The Montreal Cognitive Assessment has the potential to be used in remote assessments of patients and research participants with movement disorders. © The Author(s) 2014.

  9. An Eye-Movement Study of Relational Memory in Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Ring, Melanie; Bowler, Dermot M.; Gaigg, Sebastian B.

    2017-01-01

    Persons with Autism Spectrum Disorder (ASD) demonstrate good memory for single items but difficulties remembering contextual information related to these items. Recently, we found compromised explicit but intact implicit retrieval of object-location information in ASD (Ring et al. "Autism Res" 8(5):609-619, 2015). Eye-movement data…

  10. Movement disorder profile and treatment outcomes in a one-year study of patients with schizophrenia.

    Science.gov (United States)

    Chen, Lei; Ascher-Svanum, Haya; Lawson, Anthony; Stauffer, Virginia L; Nyhuis, Allen; Haynes, Virginia; Schuh, Kory; Kinon, Bruce J

    2013-01-01

    This study identified subgroups of patients with schizophrenia who differed on their movement disorder profile and compared their treatment outcomes. Data from a randomized, open-label, one-year study of patients with schizophrenia who were treated with antipsychotics in usual clinical care settings were analyzed (n = 640). Five measures of movement disorder were incorporated into a single Movement Disorder Index (MDI). Subgroups that differed in their movement disorder profile over the one-year study period were compared on clinical and functional outcomes. THREE SUBGROUPS WERE IDENTIFIED: a worsening of MDI in 15% of patients, an improvement in 33%, and no change in 53%. Compared with the other two subgroups, the MDI-worsened subgroup had poorer symptom improvement measured by the Positive and Negative Syndrome Scale (PANSS) total score (mean changes of -11.0, -18.4, and -16.8 for the patients who had a worsening of MDI, no change, and an improvement, respectively), poorer symptom improvement on the PANSS positive and anxiety/depression subscale scores, worsening on the 36-Item Short Form Health Survey (SF-36) physical component summary score, and a higher rate of hospitalization (P < 0.05). Patients with schizophrenia who experience worsening of their MDI score appear to have poorer clinical and functional outcomes, suggesting that such worsening may be a marker of poorer prognosis.

  11. Impact of Movement Disorders on Management of Spinal Deformity in the Elderly.

    Science.gov (United States)

    Ha, Yoon; Oh, Jae Keun; Smith, Justin S; Ailon, Tamir; Fehlings, Michael G; Shaffrey, Christopher I; Ames, Christopher P

    2015-10-01

    Spinal deformities are frequent and disabling complications of movement disorders such as Parkinson disease and multiple system atrophy. The most distinct spinal deformities include camptocormia, antecollis, Pisa syndrome, and scoliosis. Spinal surgery has become lower risk and more efficacious for complex spinal deformities, and thus more appealing to patients, particularly those for whom conservative treatment is inappropriate or ineffective. Recent innovations and advances in spinal surgery have revolutionized the management of spinal deformities in elderly patients. However, spinal deformity surgeries in patients with Parkinson disease remain challenging. High rates of mechanical complications can necessitate revision surgery. The success of spinal surgery in patients with Parkinson disease depends on an interdisciplinary approach, including both surgeons and movement disorder specialists, to select appropriate surgical patients and manage postoperative movement in order to decrease mechanical failures. Achieving appropriate correction of sagittal alignment with strong biomechanical instrumentation and bone fusion is the key determinant of satisfactory results.

  12. Importance of Rapid Eye Movement Sleep Behavior Disorder to the Primary Care Physician.

    Science.gov (United States)

    McCarter, Stuart J; Howell, Michael J

    2016-10-01

    Sleep disorders and neurodegenerative diseases are commonly encountered in primary care. A common, but underdiagnosed sleep disorder, rapid eye movement sleep behavior disorder (RBD), is highly associated with Parkinson disease and related disorders. Rapid eye movement sleep behavior disorder is common. It is estimated to affect 0.5% of the general population and more than 7% of individuals older than 60 years; however, most cases go unrecognized. Rapid eye movement sleep behavior disorder presents as dream enactment, often with patients thrashing, punching, and kicking while they are sleeping. Physicians can quickly assess for the presence of RBD with high sensitivity and specificity by asking patients the question "Have you ever been told that you act out your dreams, for example by punching or flailing your arms in the air or screaming and shouting in your sleep?" Patients with RBD exhibit subtle signs of neurodegenerative disease, such as mild motor slowing, constipation, or changes in sense of smell. These signs and symptoms may predict development of a neurodegenerative disease within 3 years. Ultimately, most patients with RBD develop a neurodegenerative disease, highlighting the importance of serial neurological examinations to assess for the presence of parkinsonism and/or cognitive impairment and prognostic counseling for these patients. Rapid eye movement sleep behavior disorder is treatable with melatonin (3-6 mg before bed) or clonazepam (0.5-1 mg before bed) and may be the most common, reversible cause of sleep-related injury. Thus, it is important to identify patients at risk of RBD in a primary care setting so that bedroom safety can be addressed and treatment may be initiated. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  13. Psychogenic nonepileptic seizures and psychogenic movement disorders: two sides of the same coin?

    Directory of Open Access Journals (Sweden)

    Luciano De Paola

    2014-10-01

    Full Text Available Psychogenic nonepileptic seizures (PNES and psychogenic movement disorders (PMD are commonly seen in Neurology practice and are categorized in the DSM-5 as functional neurological disorders/conversion disorders. This review encompasses historical and epidemiological data, clinical aspects, diagnostic criteria, treatment and prognosis of these rather challenging and often neglected patients. As a group they have puzzled generations of neurologists and psychiatrists and in some ways continue to do so, perhaps embodying and justifying the ultimate and necessary link between these specialties.

  14. Movement disorder profile and treatment outcomes in a one-year study of patients with schizophrenia

    Directory of Open Access Journals (Sweden)

    Chen L

    2013-06-01

    Full Text Available Lei Chen, Haya Ascher-Svanum, Anthony Lawson, Virginia L Stauffer, Allen Nyhuis, Virginia Haynes, Kory Schuh, Bruce J KinonEli Lilly and Company, Indianapolis, IN, USABackground: This study identified subgroups of patients with schizophrenia who differed on their movement disorder profile and compared their treatment outcomes.Methods: Data from a randomized, open-label, one-year study of patients with schizophrenia who were treated with antipsychotics in usual clinical care settings were analyzed (n = 640. Five measures of movement disorder were incorporated into a single Movement Disorder Index (MDI. Subgroups that differed in their movement disorder profile over the one-year study period were compared on clinical and functional outcomes.Results: Three subgroups were identified: a worsening of MDI in 15% of patients, an improvement in 33%, and no change in 53%. Compared with the other two subgroups, the MDI-worsened subgroup had poorer symptom improvement measured by the Positive and Negative Syndrome Scale (PANSS total score (mean changes of −11.0, −18.4, and −16.8 for the patients who had a worsening of MDI, no change, and an improvement, respectively, poorer symptom improvement on the PANSS positive and anxiety/depression subscale scores, worsening on the 36-Item Short Form Health Survey (SF-36 physical component summary score, and a higher rate of hospitalization (P < 0.05.Conclusion: Patients with schizophrenia who experience worsening of their MDI score appear to have poorer clinical and functional outcomes, suggesting that such worsening may be a marker of poorer prognosis.Keywords: schizophrenia, treatment outcome, movement disorder

  15. Study on the relation of brain functional connectivity to movement disorders and cognitive impairment in patients with rapid eye movement sleep behavior disorder

    Directory of Open Access Journals (Sweden)

    Hong-ju ZHANG

    2017-09-01

    Full Text Available Objective To explore the relation between abnormal functional connectivity of substantia nigra and impairment of movement and cognition in patients with rapid eye movement sleep behavior disorder (RBD. Methods A total of 22 subjects, including 14 patients with RBD and 8 sex, age, education-matched healthy controls, were enrolled in this study according to international diagnostic criteria. Unified Parkinson's Disease Rating Scale Ⅲ (UPDRS Ⅲ and Hoehn-Yahr Stage were used to evaluate motor function. Digit Ordering Test - Attention (DOT - A, Symbol Digit Modalities Test (SDMT, Stroop Color-Word Test (SCWT, Trail Making Test (TMT, Rey-Osterrieth Complex Figure Test (ROCFT, Clock Drawing Test (CDT, Boston Naming Test (BNT and Auditory Verbal Learning Test (AVLT were used to evaluate cognitive function. The functional connectivity from left and right substantia nigra to brain region were examined. Results There were no statistical differences of UPDRSⅢ and Hoehn?Yahr Stage between 2 groups (P > 0.05, for all. In comparison with control group, SDMT (P = 0.001, ROCFT-copy (P = 0.013 and AVLT-N2 (P = 0.032 were significantly lower, while TMT-B test was significantly higher (P =0.005 in RBD group. Compared with control group, the functional connectivity of right substantia nigra to left precentral gyrus (P < 0.005 and right angular gyrus (P < 0.005 were all decreased in RBD group. Conclusions The results suggest that cognitive impairment occurs earlier than movement disorders in RBD, and there are abnormal functional connectivity from right substantia nigra to left precentral gyrus and right angular gyrus, proving that abnormal functional connectivity is the base of behavior disorders in RBD. DOI: 10.3969/j.issn.1672-6731.2017.09.005

  16. Psychogenic Movement Disorders and Motor Conversion: A roadmap for collaboration between Neurology and Psychiatry

    Science.gov (United States)

    Kranick, Sarah M.; Gorrindo, Tristan; Hallett, Mark

    2010-01-01

    BACKGROUND There are a host of vague terms to describe psychologically-mediated symptoms that mimic neurological disease, such as “functional,” “non-organic,” “psychogenic,” or “medically unexplained.” None of these terms have a direct translation in psychiatric classification, and psychiatrists are often faced with patients who do not believe in a psychological origin for their symptoms. OBJECTIVE Within the framework of psychogenic movement disorders, we discuss the roadblocks to effective collaboration and treatment in these patients and the current state of the literature regarding diagnosis and treatment. RESULTS We describe the approach to these patients from the perspective of neurology and psychiatry, illustrating the differences in terminology and categorization. CONCLUSION Psychogenic movement disorders represent a unique opportunity for these fields to collaborate in the care of a potentially curable but significantly disabling disorder. PMID:21397102

  17. Eye movement desensitization and reprocessing therapy for personality disorders in older adults?

    Science.gov (United States)

    Gielkens, E M J; Sobczak, S; Van Alphen, S P J

    2016-10-01

    Eye Movement Desensitization and Reprocessing (EMDR) is a kind of psychotherapy, which is growing in popularity, particularly for treatment of post-traumatic stress disorder (PTSD). When Shapiro first introduced EMDR in 1989, it was approached as a controversial treatment because of lack of evidence. However, nowadays there is growing evidence for EMDR efficacy in PTSD (Mc Guire et al., 2014) and EMDR is recommended by international and national treatment guidelines for PTSD. Moreover, EMDR is also used for the treatment of other anxiety disorders, such as panic disorders (De Jongh et al., 2002). Furthermore, research continues on effects of EMDR in addiction, somatoform disorders and psychosis. So far, there is no empirical research on the efficacy of EMDR treatment in older adults.

  18. Research progress on the pathogenesis of rapid eye movement sleep behavior disorder and neurodegenerative diseases

    Directory of Open Access Journals (Sweden)

    Hai-yang JIANG

    2017-10-01

    Full Text Available Rapid eye movement sleep behavior disorder (RBD is a sleep disorder characterized by the disappearance of muscle relaxation and enacting one's dreams during rapid eye movement (REM, with most of the dreams being violent or aggressive. Prevalence of RBD, based on population, is 0.38%-2.01%, but it becomes much higher in patients with neurodegenerative diseases, especially α - synucleinopathies. RBD may herald the emergence of α-synucleinopathies by decades, thus it may be used as an effective early marker of neurodegenerative diseases. In this review, we summarized the progress on the pathogenesis of RBD and its relationship with neurodegenerative diseases. DOI: 10.3969/j.issn.1672-6731.2017.10.003

  19. Rapid eye movement sleep behavior disorder--diagnostik, årsager og behandling

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle; Jennum, Poul Jørgen

    2009-01-01

    and neurological disease. RBD is related to brainstem pathology. Furthermore, it is increasingly recognized that RBD is frequently related to Parkinsonian disorders and narcolepsy. This article reviews recent knowledge about RBD with focus on the diagnostic process and management.......Rapid eye movement (REM) sleep behaviour disorder (RBD) is characterized by loss of REM sleep and related electromyographic atonia with marked muscular activity and dream enactment behaviour. RBD is seen in 0.5% of the population. It occurs in an idiopathic form and secondarily to medical...

  20. Rapid eye movement sleep behavior disorder--diagnostik, årsager og behandling

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle; Jennum, Poul Jørgen

    2009-01-01

    Rapid eye movement (REM) sleep behaviour disorder (RBD) is characterized by loss of REM sleep and related electromyographic atonia with marked muscular activity and dream enactment behaviour. RBD is seen in 0.5% of the population. It occurs in an idiopathic form and secondarily to medical...... and neurological disease. RBD is related to brainstem pathology. Furthermore, it is increasingly recognized that RBD is frequently related to Parkinsonian disorders and narcolepsy. This article reviews recent knowledge about RBD with focus on the diagnostic process and management....

  1. Rapid Eye Movement Sleep Behavior Disorder in Paraneoplastic Cerebellar Degeneration: Improvement with Immunotherapy.

    Science.gov (United States)

    Vale, Thiago Cardoso; Fernandes do Prado, Lucila Bizari; do Prado, Gilmar Fernandes; Povoas Barsottini, Orlando Graziani; Pedroso, José Luiz

    2016-01-01

    To report two female patients with paraneoplastic cerebellar degeneration (PCD) related to breast cancer that presented with rapid eye movement-sleep behavior disorder (RBD) and improved sleep symptoms with immunotherapy. The two patients were evaluated through clinical scale and polysomnography before and after therapy with intravenous immunoglobulin. RBD was successfully treated with immunotherapy in both patients. Score on the RBD screening questionnaire dropped from 10 to 1 or 0, allied with the normalization of polysomnographic findings. A marked improvement in RBD after immunotherapy in PCD raises the hypothesis that secondary RBD may be an immune-mediated sleep disorder. © 2016 Associated Professional Sleep Societies, LLC.

  2. Attention in Parkinson’s Disease Mimicking Suggestion in Psychogenic Movement Disorder

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    Jong Sam Baik

    2012-10-01

    Full Text Available The various reported psychogenic movement disorders (PMDs include tremor, dystonia, myoclonus, gait disorder, Parkinsonism, tics, and chorea. Although it is not easy to diagnose PMDs, several features such as distractibility, entrainment, suggestion and placebo trial are quite helpful to diagnose. Especially, distractibility or suggestion is a good tool to do in outpatient clinic easily. We describe a patient with parkinsonian features which were improved by internal suggestion to focusing attention. Initially, we suspected her diagnosis as PMDs; however she was confirmed with organic Parkinson’s disease later.

  3. Borderline Personality Disorder is Associated with Lower Confidence in Perception of Emotional Body Movements

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    Morten eKaletsch

    2014-11-01

    Full Text Available Much recent research has shown that personality disorders are associated with an altered emotion perception. Whereas most of this research was conducted with stimuli such as faces, the present study examined possible differences in the perception of emotions expressed via body language and body movements. 30 patients with borderline personality disorder and 30 non-patients observed video scenes of emotional human interactions conveyed by point–light displays, rated the depicted valence, and judged their confidence in this rating. Patients with borderline personality disorder showed no altered emotion perception (i.e., no biased perception in either a negative or a positive direction. They did not perceive and evaluate depicted emotions as being more extreme than healthy controls. However, patients with borderline personality disorder showed less confidence in their perception of depicted emotions, especially when these were difficult to identify. The findings extend insights on altered emotion perception in persons with borderline personality disorder to include the field of body movements.

  4. Leg Movement Activity During Sleep in Adults With Attention-Deficit/Hyperactivity Disorder

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    Corrado Garbazza

    2018-05-01

    Full Text Available Objectives: To conduct a first detailed analysis of the pattern of leg movement (LM activity during sleep in adult subjects with Attention-Deficit/Hyperactivity Disorder (ADHD compared to healthy controls.Methods: Fifteen ADHD patients and 18 control subjects underwent an in-lab polysomnographic sleep study. The periodic character of LMs was evaluated with established markers of “periodicity,” i.e., the periodicity index, intermovement intervals, and time distribution of LM during sleep, in addition to standard parameters such as the periodic leg movement during sleep index (PLMSI and the periodic leg movement during sleep arousal index (PLMSAI. Subjective sleep and psychiatric symptoms were assessed using several, self-administered, screening questionnaires.Results: Objective sleep parameters from the baseline night did not significantly differ between ADHD and control subjects, except for a longer sleep latency (SL, a longer duration of the periodic leg movements during sleep (PLMS in REM sleep and a higher PLMSI also in REM sleep. Data from the sleep questionnaires showed perception of poor sleep quality in ADHD patients.Conclusions: Leg movements during sleep in ADHD adults are not significantly more frequent than in healthy controls and the nocturnal motor events do not show an increased periodicity in these patients. The non-periodic character of LMs in ADHD has already been shown in children and seems to differentiate ADHD from other pathophysiological related conditions like restless legs syndrome (RLS or periodic limb movement disorder (PLMD. The reduced subjective sleep quality reported by ADHD adults contrasted with the normal objective polysomnographic parameters, which could suggest a sleep-state misperception in these individuals or more subtle sleep abnormalities not picked up by the traditional sleep staging.

  5. Periodic Limbic Movement Disorder during Sleep as Diabetes-Related Syndrome? A Polysomnographic Study

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    Rizzi, M.; Barrella, M.; Kotzalidis, G. D.; Bevilacqua, M.

    2011-01-01

    Introduction. Periodic limb movements during sleep (PLMs) is common in the elderly. When quality-of-life drops due to sleep disturbances, we speak about periodic limb movement disorder during sleep (PLMD). Another similar disorder, restless legs syndrome (RLS), is considered to be related to diabetes; RLS and PLMDs are genetically related. Our aim was to detect PLMDs in a population of diabetic patients and identify them as possible hallmarks of these autonomic disorders. Material and Methods. We selected 41 type-2 diabetics with no sleep comorbidity, and compared them with 38 healthy matched volunteers. All participants underwent the Epworth Sleepiness Scale (ESS) and polysomnography (PSG). A periodic limb movement (PLM) index >5, that is, the higher number of PLMs/sleep hour for the entire night, was considered as abnormal. Results. Diabetics showed lower sleep efficiency than controls on the ESS, lower proportions of REM and non-REM sleep, and higher arousal and PLM indexes, as assessed through PSG. PLMDs were diagnosed in 13 of 41 diabetic patients (31%); the latter showed lower sleep efficiency, lower non-REM slow-wave sleep, and increased arousal and PLM indexes. Conclusion. The relationship between PLMs-related sleep fragmentation and endocrine carbohydrate metabolism regulation might be casual or genetically determined. This deserves further investigations. PMID:22363869

  6. Detection of mental imagery and attempted movements in patients with disorders of consciousness using EEG

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    Petar eHorki

    2014-12-01

    Full Text Available Further development of an EEG based communication device for patients with disorders of consciousness (DoC could benefit from addressing the following gaps in knowledge – first, an evaluation of different types of motor imagery; second, an evaluation of passive feet movement as a mean of an initial classifier setup; and third, rapid delivery of biased feedback. To that end we investigated whether complex and / or familiar mental imagery, passive, and attempted feet movement can be reliably detected in patients with DoC using EEG recordings, aiming to provide them with a means of communication. Six patients in a minimally conscious state (MCS took part in this study. The patients were verbally instructed to perform different mental imagery tasks (sport, navigation, as well as attempted feet movements, to induce distinctive event-related (desynchronization (ERD/S patterns in the EEG. Offline classification accuracies above chance level were reached in all three tasks (i.e. attempted feet, sport, and navigation, with motor tasks yielding significant (p<0.05 results more often than navigation (sport: 10 out of 18 sessions; attempted feet: 7 out of 14 sessions; navigation: 4 out of 12 sessions. The passive feet movements, evaluated in one patient, yielded mixed results: whereas time-frequency analysis revealed task-related EEG changes over neurophysiological plausible cortical areas, the classification results were not significant enough (p<0.05 to setup an initial classifier for the detection of attempted movements. Concluding, the results presented in this study are consistent with the current state of the art in similar studies, to which we contributed by comparing different types of mental tasks, notably complex motor imagery and attempted feet movements, within patients. Furthermore, we explored new venues, such as an evaluation of passive feet movement as a mean of an initial classifier setup, and rapid delivery of biased feedback.

  7. Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias.

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    Angelika eRichter

    2015-11-01

    Full Text Available Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e. dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans, and summarizes similar hereditary movement disorders reported in domestic animals.

  8. [Therapeutic effects of the Feldenkrais method "awareness through movement" in patients with eating disorders].

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    Laumer, U; Bauer, M; Fichter, M; Milz, H

    1997-05-01

    Based on the movement-pedagogical concept of Feldenkrais and the findings-of disturbed body perception by eating disordered patients this research aimed at studying the therapeutical effects of the Feldenkrais Method "Awareness through Movement" with eating disorder patients, 15 eating disordered patients treated at the Roseneck hospital for behavioural medicine rated-by means of a questionnaire consisting of scales of the Body Cathexis Scale (BCS), the Body Parts Satisfaction Scale (BPSS), the questionnaire for body perception (Fragebogen zum Körpererleben; FKE), the Emotion inventory (Emotionalitätsinventar; EMI-B), the Anorexia-Nervosa-Inventory for Self-rating (ANIS) and the Eating Disorder Inventory-2 (EDI)-various aspects of their eating disorder before and after participating in a nine hour course of the Feldenkrais Method. The data of these patients were compared to those of the members of a control group, also consisting of 15 eating disordered patients who did not participate in a Feldenkrais course. The participants of the Feldenkrais-course showed increasing contentment with regard to problematic zones of their body and their own health as well as concerning acceptance and familiarity with their own body. Other results were a more spontaneous, open and self-confident behaviour, the decrease of feelings of helplessness and decrease of the wish to return to the security of the early childhood, which indicates the development of felt sense of self, self-confidence and a general process of maturation of the whole personality. The outcome points to the therapeutical effectiveness of the Feldenkrais Method with eating-disorder patients within a multimodal treatment program.

  9. Moving forward: advances in the treatment of movement disorders with deep brain stimulation

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    Terry K Schiefer

    2011-11-01

    Full Text Available The modern era of stereotactic and functional neurosurgery has ushered in state of the art technologies for the treatment of movement disorders, particularly Parkinson’s disease (PD, tremor, and dystonia. After years of experience with various surgical therapies, the eventual shortcomings of both medical and surgical treatments, and several serendipitous discoveries, deep brain stimulation (DBS has risen to the forefront as a highly effective, safe, and reversible treatment for these conditions. Idiopathic advanced Parkinson’s disease can be treated with thalamic, globus pallidus internus (GPi, or subthalamic nucleus (STN DBS. Thalamic DBS primarily relieves tremor while GPi and STN DBS alleviate a wide range of Parkinsonian symptoms. Thalamic DBS is also used in the treatment of other types of tremor, particularly essential tremor, with excellent results. Both primary and various types of secondary dystonia can be treated very effectively with GPi DBS. The variety of anatomical targets for these movement disorders is indicative of the network-level dysfunction mediating these movement disturbances. Despite an increasing understanding of the clinical benefits of DBS, little is known about how DBS can create such wide sweeping neuromodulatory effects. The key to improving this therapeutic modality and discovering new ways to treat these and other neurologic conditions lies in better understanding the intricacies of DBS. Here we review the history and pertinent clinical data for DBS treatment of PD, tremor, and dystonia. Our search criteria for PubMed included combinations of the following terms: DBS, neuromodulation, movement disorders, PD, tremor, dystonia, and history. Dates were not restricted.

  10. Cognitive Behavioral Therapy and Eye Movement Desensitization and Reprocessing in Posttraumatic Stress Disorder

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    Filiz Izci

    2017-04-01

    Cognitive behavioral therapy (CBT and eye movement desensitization and reprocessing (EMDR are from the most common treatment methods that have begun to be used in trauma patients in recent years. With the increased applicability of these treatment models in Post Traumatic Stress Disorder (PTSD and on other trauma patients success of treatment rate in trauma patients is increasing steadily. In this article, it is tried to review the application forms and effects of EMDR and CBT methods among patients with PTSD which is a commonly seen trauma disorder. It is aimed in this article to emphasize the importance of CBT and a newly treatment EMDR in post-traumatic acute and chronic disorders with multiple psychiatric symptoms. [JCBPR 2017; 6(1.000: 31-38

  11. Impaired driving simulation in patients with Periodic Limb Movement Disorder and patients with Obstructive Sleep Apnea Syndrome

    NARCIS (Netherlands)

    Gieteling, Esther W.; Bakker, Marije S.; Hoekema, Aarnoud; Maurits, Natasha M.; Brouwer, Wiebo H.; van der Hoeven, Johannes H.

    Background: Excessive daytime sleepiness (EDS) is considered to be responsible for increased collision rate and impaired driving simulator performance in Obstructive Sleep Apnea Syndrome (OSAS) patients. Periodic Limb Movement Disorder (PLMD) patients also frequently report EDS and may also have

  12. [Correction of psychophysical development of preschool children 3-4 year old with movement disorders by means of Bobath therapy

    OpenAIRE

    Bukhovets, B.O.

    2016-01-01

    This study deals with the definition of efficiency application means Bobath therapy as main correction psychophysical development method of preschool age 3 -4 years children, who have movement disorders.

  13. The effectiveness of non-invasive brain stimulation in improving clinical signs of hyperkinetic movement disorders

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    Ignacio eObeso

    2016-01-01

    Full Text Available Repetitive transcranial magnetic stimulation (rTMS is a safe and non-invasive method for stimulating cortical neurons. In neurological realm, rTMS has prevalently been applied to understand pathophysiological mechanisms underlying movement disorders. However, this tool has also the potential to be translated into a clinically applicable therapeutic use. Several available studies supported this hypothesis, but differences in protocols, clinical enrollment and variability of rTMS effects across individuals complicate better understanding of efficient clinical protocols.The aim of this present review is to discuss to what extent the evidence provided by the therapeutic use of rTMS may be generalized. In particular, we attempted to define optimal cortical regions and stimulation protocols that have been demonstrated to maximize the effectiveness seen in the actual literature for the three most prevalent hyperkinetic movement disorders: Parkinson´s disease with levodopa-induced dyskinesias, essential tremor and dystonia. A total of 28 rTMS studies met our search criteria. Despite clinical and methodological differences, overall these studies demonstrated that therapeutic applications of rTMS to normalize pathologically decreased or increased levels of cortical activity have given moderate progress in patient´s quality of life. Moreover, the present literature suggests that altered pathophysiology in hyperkinetic movement disorders establishes motor, premotor or cerebellar structures as candidate regions to reset cortico-subcortical pathways back to normal. Although rTMS has the potential to become a powerful tool for ameliorating the clinical outcome of hyperkinetic neurological patients, until now there is not a clear consensus on optimal protocols for these motor disorders. Well-controlled multicenter randomized clinical trials with high numbers of patients are urgently required.

  14. Human movement stochastic variability leads to diagnostic biomarkers In Autism Spectrum Disorders (ASD)

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    Wu, Di; Torres, Elizabeth B.; Jose, Jorge V.

    2015-03-01

    ASD is a spectrum of neurodevelopmental disorders. The high heterogeneity of the symptoms associated with the disorder impedes efficient diagnoses based on human observations. Recent advances with high-resolution MEM wearable sensors enable accurate movement measurements that may escape the naked eye. It calls for objective metrics to extract physiological relevant information from the rapidly accumulating data. In this talk we'll discuss the statistical analysis of movement data continuously collected with high-resolution sensors at 240Hz. We calculated statistical properties of speed fluctuations within the millisecond time range that closely correlate with the subjects' cognitive abilities. We computed the periodicity and synchronicity of the speed fluctuations' from their power spectrum and ensemble averaged two-point cross-correlation function. We built a two-parameter phase space from the temporal statistical analyses of the nearest neighbor fluctuations that provided a quantitative biomarker for ASD and adult normal subjects and further classified ASD severity. We also found age related developmental statistical signatures and potential ASD parental links in our movement dynamical studies. Our results may have direct clinical applications.

  15. Clinical characteristics, management and long-term outcome of suspected rapid eye movement sleep behaviour disorder in 14 dogs.

    Science.gov (United States)

    Schubert, T A; Chidester, R M; Chrisman, C L

    2011-02-01

    To describe the clinical characteristics, management and long-term outcome in dogs with suspected rapid eye movement sleep behaviour disorder. Medical records and video recordings of 14 dogs with suspected rapid eye movement sleep behaviour disorder were reviewed and the owners were contacted via telephone or email for further information. Clinical signs included episodes of violent limb movements, howling, barking, growling, chewing, or biting during sleep. Episodes occurred at night and during daytime naps. The age at onset ranged from 8 weeks to 7·5 years with a median of 6 years but 64% of dogs were one year or less. There was no apparent sex or breed predisposition. Rapid eye movement sleep behaviour disorder events were reduced in severity and frequency in 78% of the dogs treated with 40 mg/kg/day oral potassium bromide. One dog was euthanized within 3 months of the onset of signs because of their severity. The duration of the disorder in the 13 surviving dogs ranged from 1·5 to 9 years. None of the dogs spontaneously recovered. Rapid eye movement sleep behaviour disorder is suspected to occur in dogs, as it does in human beings. It causes concern to the owners and disrupts the home environment. Unlike human beings, rapid eye movement sleep behaviour disorder of dogs often has a juvenile onset. © 2011 British Small Animal Veterinary Association.

  16. Cognitive Control of Saccadic Eye Movements in Children with Developmental Coordination Disorder.

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    Claudia C Gonzalez

    Full Text Available The ability to use advance information to prepare and execute a movement requires cognitive control of behaviour (e.g., anticipation and inhibition. Our aim was to explore the integrity of saccadic eye movement control in developmental coordination disorder (DCD and typically developing (TD children (8-12 years and assess how these children plan and inhibit saccadic responses, the principal mechanisms within visual attention control. Eye movements and touch responses were measured (separately and concurrently in Cued and Non-Cued conditions. We found that children with DCD had similar saccade kinematics to the TD group during saccade initiation. Advance information decreased hand movement duration in both groups during Cued trials, but decrements in accuracy were significantly worse in the DCD group. In addition, children with DCD exhibited greater inhibitory errors and inaccurate fixation during the Cued trials. Thus, children with DCD were reasonably proficient in executing saccades during reflexive (Non-Cued conditions, but showed deficits in more complex control processes involving prediction and inhibition. These findings have implications for our understanding of motor control in children with DCD.

  17. Basal ganglia, movement disorders and deep brain stimulation: advances made through non-human primate research.

    Science.gov (United States)

    Wichmann, Thomas; Bergman, Hagai; DeLong, Mahlon R

    2018-03-01

    Studies in non-human primates (NHPs) have led to major advances in our understanding of the function of the basal ganglia and of the pathophysiologic mechanisms of hypokinetic movement disorders such as Parkinson's disease and hyperkinetic disorders such as chorea and dystonia. Since the brains of NHPs are anatomically very close to those of humans, disease states and the effects of medical and surgical approaches, such as deep brain stimulation (DBS), can be more faithfully modeled in NHPs than in other species. According to the current model of the basal ganglia circuitry, which was strongly influenced by studies in NHPs, the basal ganglia are viewed as components of segregated networks that emanate from specific cortical areas, traverse the basal ganglia, and ventral thalamus, and return to the frontal cortex. Based on the presumed functional domains of the different cortical areas involved, these networks are designated as 'motor', 'oculomotor', 'associative' and 'limbic' circuits. The functions of these networks are strongly modulated by the release of dopamine in the striatum. Striatal dopamine release alters the activity of striatal projection neurons which, in turn, influences the (inhibitory) basal ganglia output. In parkinsonism, the loss of striatal dopamine results in the emergence of oscillatory burst patterns of firing of basal ganglia output neurons, increased synchrony of the discharge of neighboring basal ganglia neurons, and an overall increase in basal ganglia output. The relevance of these findings is supported by the demonstration, in NHP models of parkinsonism, of the antiparkinsonian effects of inactivation of the motor circuit at the level of the subthalamic nucleus, one of the major components of the basal ganglia. This finding also contributed strongly to the revival of the use of surgical interventions to treat patients with Parkinson's disease. While ablative procedures were first used for this purpose, they have now been largely

  18. A single-question screen for rapid eye movement sleep behavior disorder: a multicenter validation study.

    Science.gov (United States)

    Postuma, Ronald B; Arnulf, Isabelle; Hogl, Birgit; Iranzo, Alex; Miyamoto, Tomoyuki; Dauvilliers, Yves; Oertel, Wolfgang; Ju, Yo-El; Puligheddu, Monica; Jennum, Poul; Pelletier, Amelie; Wolfson, Christina; Leu-Semenescu, Smaranda; Frauscher, Birgit; Miyamoto, Masayuki; Cochen De Cock, Valerie; Unger, Marcus M; Stiasny-Kolster, Karin; Fantini, Maria Livia; Montplaisir, Jacques Y

    2012-06-01

    Idiopathic rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia that is an important risk factor for Parkinson's disease (PD) and Lewy body dementia. Its prevalence is unknown. One barrier to determining prevalence is that current screening tools are too long for large-scale epidemiologic surveys. Therefore, we designed the REM Sleep Behavior Disorder Single-Question Screen (RBD1Q), a screening question for dream enactment with a simple yes/no response. Four hundred and eighty-four sleep-clinic-based participants (242 idiopathic RBD patients and 242 controls) completed the screen during a multicenter case-control study. All participants underwent a polysomnogram to define gold-standard diagnosis according to standard criteria. We found a sensitivity of 93.8% and a specificity of 87.2%. Sensitivity and specificity were similar in healthy volunteers, compared to controls or patients with other sleep diagnoses. A single-question screen for RBD may reliably detect disease, with psychometric properties favorably comparable to those reported for longer questionnaires. Copyright © 2012 Movement Disorder Society.

  19. 123-I ioflupane (Datscan® presynaptic nigrostriatal imaging in patients with movement disorders

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    Angel Soriano Castrejón

    2005-10-01

    Full Text Available 123-I Ioflupane (Datscan® presynaptic imaging has been shown to have a significant utility in the assessment of patients with movement disorders 123-I Ioflupane SPECT is able to distinguish between Parkinson’s disease (PD and other forms of parkinsonism without degeneration of the nigrostriatal pathway, including a common movement disorder such as essential tremor, and to assess disease progression in PD and other neurodegenerative disorders involving the substantia nigra.A imagem pré-sináptica através de 123-I Ioflupane (Datscan® tem mostrado um papel significante na avaliação de pacientes com distúrbios do movimento. 123-I Ioflupane SPECT é capaz de distinguir entre Mal de Parkinson (MP e outras formas de parkinsonismo sem degenerações da via nigroestriatal incluindo um distúrbio comum de movimento parecido com o tremor essencial e para medir a evolução da doença no Mal de Parkinson e outros distúrbios neurodegenerativos envolvendo a substantia nigra.

  20. An Eye-Movement Study of relational Memory in Adults with Autism Spectrum Disorder.

    Science.gov (United States)

    Ring, Melanie; Bowler, Dermot M; Gaigg, Sebastian B

    2017-10-01

    Persons with Autism Spectrum Disorder (ASD) demonstrate good memory for single items but difficulties remembering contextual information related to these items. Recently, we found compromised explicit but intact implicit retrieval of object-location information in ASD (Ring et al. Autism Res 8(5):609-619, 2015). Eye-movement data collected from a sub-sample of the participants are the focus of the current paper. At encoding, trial-by-trial viewing durations predicted subsequent retrieval success only in typically developing (TD) participants. During retrieval, TD compared to ASD participants looked significantly longer at previously studied object-locations compared to alternative locations. These findings extend similar observations recently reported by Cooper et al. (Cognition 159:127-138, 2017a) and demonstrate that eye-movement data can shed important light on the source and nature of relational memory difficulties in ASD.

  1. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

    Science.gov (United States)

    Ohba, Chihiro; Shiina, Masaaki; Tohyama, Jun; Haginoya, Kazuhiro; Lerman-Sagie, Tally; Okamoto, Nobuhiko; Blumkin, Lubov; Lev, Dorit; Mukaida, Souichi; Nozaki, Fumihito; Uematsu, Mitsugu; Onuma, Akira; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Miyake, Noriko; Tanaka, Fumiaki; Kato, Mitsuhiro; Ogata, Kazuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi

    2015-06-01

    Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRIN1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations. Eighty-eight patients with unclassified early onset epileptic encephalopathies (EOEEs) with an age of onset A) with a mutant allele frequency of 16% (in DNA of blood leukocytes) was detected in one patient. Three mutations were located in the transmembrane domain (3/4, 75%), and one in the extracellular loop near transmembrane helix 1. All the mutations were predicted to impair the function of the NMDA receptor. Clinical features of de novo GRIN1 mutations include infantile involuntary movements, seizures, and hand stereotypies, suggesting that GRIN1 mutations cause encephalopathy resulting in seizures and movement disorders. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  2. Movement disorders secondary to long-term treatment with cyclosporine A

    OpenAIRE

    Munhoz,Renato P.; Teive,Helio A.G.; Germiniani,Francisco M.B.; Gerytch Jr,Júlio C.; Sá,Daniel S.; Bittencourt,Marco A.; Pasquini,Ricardo; Camargo,Carlos H.F.; Werneck,Lineu César

    2005-01-01

    OBJECTIVE: To analyze the prevalence, severity and functional interference of movement disorders (MD) secondary to chronic use of cyclosporine A (CsA). METHOD: We conducted a cross-sectional study of 60 patients (58.3% male) with mean age 23.1 (3-75) years, followed at the Bone Marrow Transplantation Service of the Hospital de Clínicas of the Federal University of Paraná, Brazil, taking CsA for at least six months. Our protocol included clinical data, assessment of functional interference of ...

  3. Treatment of movement disorders using deep brain stimulation – illustrative case reports and technical notes

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    Tadej Strojnik

    2012-05-01

    Full Text Available Operative neuromodulation is the field of electrically or chemically altering the signal transmission in the nervous system by implanted devices in order to excite, inhibit or tune the activities of neurons or neural networks to produce therapeutic effects. Deep brain stimulation (DBS is an important component of the therapy of movement disorders and has almost completely replaced high-frequency coagulation of brain tissue in stereotactic neurosurgery. This article presents the first DBS cases in Slovenia. In the article the technical features and adjustments of magnetic resonance (MR imaging and development of a new microdrive, which was clinically successfully tested, are described and discussed.

  4. Dopaminergic dysfunction and psychiatric symptoms in movement disorders: a 123I-FP-CIT SPECT study

    International Nuclear Information System (INIS)

    Di Giuda, Daniela; Cocciolillo, Fabrizio; Bruno, Isabella; Giordano, Alessandro; Camardese, Giovanni; Pucci, Lorella; Janiri, Luigi; Bentivoglio, Anna Rita; Guidubaldi, Arianna; Fasano, Alfonso

    2012-01-01

    Psychiatric symptoms frequently occur in patients with movement disorders. They are not a mere reaction to chronic disability, but most likely due to a combination of psychosocial factors and biochemical dysfunction underlying the movement disorder. We assessed dopamine transporter (DAT) availability by means of 123 I-FP-CIT SPECT, and motor and psychiatric features in patients with Parkinson's disease, primary dystonia and essential tremor, exploring the association between SPECT findings and symptom severity. Enrolled in the study were 21 patients with Parkinson's disease, 14 patients with primary dystonia and 15 patients with essential tremor. The severity of depression symptoms was assessed using the Hamilton depression rating scale, anxiety levels using the Hamilton anxiety rating scale and hedonic tone impairment using the Snaith-Hamilton pleasure scale. Specific 123 I-FP-CIT binding in the caudate and putamen was calculated based on ROI analysis. The control group included 17 healthy subjects. As expected, DAT availability was significantly decreased in patients with Parkinson's disease, whereas in essential tremor and dystonia patients it did not differ from that observed in the control group. In Parkinson's disease patients, an inverse correlation between severity of depression symptoms and DAT availability in the left caudate was found (r = -0.63, p = 0.002). In essential tremor patients, levels of anxiety symptoms were inversely correlated with DAT availability in the left caudate (r = -0.69, p = 0.004). In dystonia patients, the severities of both anxiety and depression symptoms were inversely associated with DAT availability in the left putamen (r = -0.71, p = 0.004, and r = -0.75, p = 0.002, respectively). There were no correlations between psychometric scores and 123 I-FP-CIT uptake ratios in healthy subjects. We found association between presynaptic dopaminergic function and affective symptoms in different movement disorders. Interestingly, the

  5. Effect of Aggression Regulation on Eating Disorder Pathology : RCT of a Brief Body and Movement Oriented Intervention

    NARCIS (Netherlands)

    Boerhout, Cees; Swart, Marte; Van Busschbach, Jooske T.; Hoek, Hans W.

    ObjectiveThe objective of the study is to evaluate the effect of a brief body and movement oriented intervention on aggression regulation and eating disorder pathology for individuals with eating disorders. MethodIn a first randomized controlled trial, 40 women were allocated to either the

  6. [Writer's cramp--focal dystonia or psychogenic movement disorder? A critical literature study].

    Science.gov (United States)

    Zacher, A

    1989-08-01

    For more than 100 years there has been a discussion as to whether writer's cramp is caused by a disease of the central nervous system, or if it is to be considered as a disturbance of psychogenic origin. Whereas before 1982 there seemed to be a lot of evidence for the psychogenic theory many authors now tend to stress the opinion of Sheehy and Marsden who had explained that "writer's cramp" should be seen as a "focal dystonia". This article discusses the statements of Sheehy and Marsden in comparison with other scientific findings regarding the occupational cramps--above all "writer's cramp". It is concluded that there are different therapeutic approaches derived from the respective theory and which are considered to lessen the movement disorder. Scientific literature suggests that psychotherapy or some therapeutic approaches of behaviour therapy are more effectful in mastering this "mysterious" disorder than any pharmacological substance tested upto now.

  7. Galvanic vestibular stimulation: a novel modulatory countermeasure for vestibular-associated movement disorders

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    Carlos V. Rizzo-Sierra

    2014-01-01

    Full Text Available Motion sickness or kinetosis is the result of the abnormal neural output originated by visual, proprioceptive and vestibular mismatch, which reverses once the dysfunctional sensory information becomes coherent. The space adaptation syndrome or space sickness relates to motion sickness; it is considered to be due to yaw, pith, and roll coordinates mismatch. Several behavioural and pharmacological measures have been proposed to control these vestibular-associated movement disorders with no success. Galvanic vestibular stimulation has the potential of up-regulating disturbed sensory-motor mismatch originated by kinetosis and space sickness by modulating the GABA-related ion channels neural transmission in the inner ear. It improves the signal-to-noise ratio of the afferent proprioceptive volleys, which would ultimately modulate the motor output restoring the disordered gait, balance and human locomotion due to kinetosis, as well as the spatial disorientation generated by gravity transition.

  8. [The role of eye movement desensitization and reprocessing (EMDR) in substance use disorders: A systematic review].

    Science.gov (United States)

    Pilz, René; Hartleb, Riccarda; Konrad, Gabriela; Reininghaus, Eva; Unterrainer, Human Friedrich

    2017-10-01

    Eye Movement Desensitization and Reprocessing (EMDR) is a therapeutic method that has been shown to be especially effective in traumatic disorders. Since the concept of an addiction memory has become widely accepted, the use of EMDR also in substance use disorders (SUD) treatment might count as a separate field. This review summarizes the current state of research on treatment effects EMDR in SUD. The literature search included the databases of PubMed and PsychInfo; four studies met the inclusion criteria. EMDR was found to be related to a decreased amount of craving, fear and depression and to an improvement of emotion regulation and management and self-esteem. Initial findings indicate a high therapeutic potential of EMDR in SUD treatment. Georg Thieme Verlag KG Stuttgart · New York.

  9. Neuropsychological profile of psychogenic jerky movement disorders: importance of evaluating non-credible cognitive performance and psychopathology.

    Science.gov (United States)

    Heintz, Carolien E J; van Tricht, Mirjam J; van der Salm, Sandra M A; van Rootselaar, A F; Cath, Danielle; Schmand, Ben; Tijssen, Marina A J

    2013-08-01

    Psychogenic movement disorders are disorders of movements that cannot be explained by a known neurological disorder and are assumed to be associated with psychiatric symptoms such as depression and anxiety. To examine the neuropsychological profile of patients with psychogenic movement disorders. We examined cognitive functioning using neuropsychological tests in 26 patients with clinically established psychogenic jerky movement disorders (PMD). We included 16 patients with Gilles de la Tourette syndrome (GTS) who served as a patient control group, in addition to 22 healthy control subjects. Non-credible test performance was detected using a Symptom Validity Test (SVT). Psychopathology was also assessed. Apart from a worse performance on a verbal memory task, no evidence of neuropsychological impairments was found in our PMD sample. Interestingly however, patients with PMD reported more cognitive complaints in daily life and performed worse on the SVT than the two other groups. Patients with GTS did not report, or show, cognitive impairments. In patients with PMD, we found associations between verbal learning, SVT performance and severity of depression and anxiety complaints. We conclude that some patients with PMD show non-credible cognitive symptoms. In contrast, no evident cognitive impairments were present in patients with PMD or GTS. Our study underlines the importance of assessment of non-credible response in patients with PMD. Additionally, non-credible response might aid in the differentiation of PMD from other movement disorders.

  10. Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

    Science.gov (United States)

    Robertson, Erin E; Hall, Deborah A; McAsey, Andrew R; O'Keefe, Joan A

    2016-08-01

    The purpose of this paper is to review the typical cognitive and motor impairments seen in fragile X-associated tremor/ataxia syndrome (FXTAS), essential tremor (ET), Parkinson disease (PD), spinocerebellar ataxias (SCAs), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP) in order to enhance diagnosis of FXTAS patients. We compared the cognitive and motor phenotypes of FXTAS with each of these other movement disorders. Relevant neuropathological and neuroimaging findings are also reviewed. Finally, we describe the differences in age of onset, disease severity, progression rates, and average lifespan in FXTAS compared to ET, PD, SCAs, MSA, and PSP. We conclude with a flow chart algorithm to guide the clinician in the differential diagnosis of FXTAS. By comparing the cognitive and motor phenotypes of FXTAS with the phenotypes of ET, PD, SCAs, MSA, and PSP we have clarified potential symptom overlap while elucidating factors that make these disorders unique from one another. In summary, the clinician should consider a FXTAS diagnosis and testing for the Fragile X mental retardation 1 (FMR1) gene premutation if a patient over the age of 50 (1) presents with cerebellar ataxia and/or intention tremor with mild parkinsonism, (2) has the middle cerebellar peduncle (MCP) sign, global cerebellar and cerebral atrophy, and/or subcortical white matter lesions on MRI, or (3) has a family history of fragile X related disorders, intellectual disability, autism, premature ovarian failure and has neurological signs consistent with FXTAS. Peripheral neuropathy, executive function deficits, anxiety, or depression are supportive of the diagnosis. Distinct profiles in the cognitive and motor domains between these movement disorders may guide practitioners in the differential diagnosis process and ultimately lead to better medical management of FXTAS patients.

  11. Nocturnal agitation in Huntington disease is caused by arousal-related abnormal movements rather than by rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Neutel, Dulce; Tchikviladzé, Maya; Charles, Perrine; Leu-Semenescu, Smaranda; Roze, Emmanuel; Durr, Alexandra; Arnulf, Isabelle

    2015-06-01

    Patients with Huntington disease (HD) and their spouses often complain of agitation during sleep, but the causes are mostly unknown. To evaluate sleep and nocturnal movements in patients with various HD stages and CAG repeats length. The clinical features and sleep studies of 29 patients with HD were retrospectively collected (11 referred for genotype-phenotype correlations and 18 for agitation during sleep) and compared with those of 29 age- and sex-matched healthy controls. All patients had videopolysomnography, but the movements during arousals were re-analyzed in six patients with HD with stored video. The patients had a longer total sleep period and REM sleep onset latency, but no other differences in sleep than controls. There was no correlation between CAG repeat length and sleep measures, but total sleep time and sleep efficiency were lower in the subgroup with moderate than milder form of HD. Periodic limb movements and REM sleep behavior disorders were excluded, although 2/29 patients had abnormal REM sleep without atonia. In contrast, they had clumsy and opisthotonos-like movements during arousals from non-REM or REM sleep. Some movements were violent and harmful. They might consist of voluntary movements inappropriately involving the proximal part of the limbs on a background of exaggerated hypotonia. Giant (>65 mcV) sleep spindles were observed in seven (24%) patients with HD and one control. The nocturnal agitation in patients with HD seems related to anosognostic voluntary movements on arousals, rather than to REM sleep behavior disorder and other sleep problems. Copyright © 2014 Elsevier B.V. All rights reserved.

  12. Autism as a developmental disorder in intentional movement and affective engagement

    Directory of Open Access Journals (Sweden)

    COLWYN eTREVARTHEN

    2013-07-01

    Full Text Available We review evidence that autistic spectrum disorders have their origin in early, prenatal failure of development in systems that program timing, serial coordination and prospective control of movements and that regulate affective evaluations of experiences. There are effects in early infancy, before medical diagnosis, especially in motor sequencing, selective or exploratory attention, affective expression and intersubjective engagement with parents. These are followed by retardation of cognitive development and language learning in the second or third year, which lead to a diagnosis of ASD. The early signs relate to abnormalities that have been found in brain stem systems and cerebellum in the embryo or early foetal stage, before the cerebral neocortex is functional, and they have clear consequences in infancy when neocortical systems are intensively elaborated. We propose, with evidence of the disturbances of posture, locomotion and prospective motor control in children with autism, as well as facial expression of interest and affect, and attention to other persons’ expressions, that examination of the psychobiology of motor affective disorders, rather than later developing cognitive or linguistic ones, may facilitate early diagnosis. Research in this area may also explain how intense interaction, imitation or ‘expressive art’ therapies, which respond intimately with motor activities, are effective at later stages. Exceptional talents of some autistic people may be acquired compensations for basic problems with expectant self-regulations of movement, attention and emotion.

  13. Autism as a developmental disorder in intentional movement and affective engagement.

    Science.gov (United States)

    Trevarthen, Colwyn; Delafield-Butt, Jonathan T

    2013-01-01

    We review evidence that autistic spectrum disorders have their origin in early prenatal failure of development in systems that program timing, serial coordination and prospective control of movements, and that regulate affective evaluations of experiences. There are effects in early infancy, before medical diagnosis, especially in motor sequencing, selective or exploratory attention, affective expression and intersubjective engagement with parents. These are followed by retardation of cognitive development and language learning in the second or third year, which lead to a diagnosis of ASD. The early signs relate to abnormalities that have been found in brain stem systems and cerebellum in the embryo or early fetal stage, before the cerebral neocortex is functional, and they have clear consequences in infancy when neocortical systems are intensively elaborated. We propose, with evidence of the disturbances of posture, locomotion and prospective motor control in children with autism, as well as of their facial expression of interest and affect, and attention to other persons' expressions, that examination of the psychobiology of motor affective disorders, rather than later developing cognitive or linguistic ones, may facilitate early diagnosis. Research in this area may also explain how intense interaction, imitation or "expressive art" therapies, which respond intimately with motor activities, are effective at later stages. Exceptional talents of some autistic people may be acquired compensations for basic problems with expectant self-regulations of movement, attention and emotion.

  14. Memory for past events: movement and action chains in high-functioning autism spectrum disorders.

    Science.gov (United States)

    Daprati, Elena; Nico, Daniele; Delorme, Richard; Leboyer, Marion; Zalla, Tiziana

    2013-05-01

    In the present study, we assessed whether individuals with autism spectrum disorders (ASD) show memory impairments for previously performed actions, as previously suggested for people suffering from obsessive-compulsive disorder (OCD) (Ecker and Engelkamp in Behav Cogn Psychother 23:349-371, 1995; Merckelbach and Wessel in J Nerv Ment Dis 188(12):846-848, 2000). To test this possibility, we explored verbal memory for actions in individuals with a diagnosis of ASD, with and without co-morbidity for OCD, and in controls matched for age and gender. Participants observed or observed and enacted a number of actions while listening to the corresponding phrases being spoken. After a suitable delay, they were submitted to an old/new recognition task. Results showed that ASD individuals with OCD were less accurate and slower in responding compared to ASD individuals without OCD and controls, particularly when dealing with phrases describing simple movements. In contrast, ASD participants without OCD were more impaired when phrases described complex actions that involved pantomiming object use or coordinating movements of multiple body parts. These findings are discussed in terms of differential organization of the motor trace for simple versus complex actions in ASD individuals according to the concurrent presence of OCD.

  15. Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.

    Science.gov (United States)

    Höglinger, Günter U; Respondek, Gesine; Stamelou, Maria; Kurz, Carolin; Josephs, Keith A; Lang, Anthony E; Mollenhauer, Brit; Müller, Ulrich; Nilsson, Christer; Whitwell, Jennifer L; Arzberger, Thomas; Englund, Elisabet; Gelpi, Ellen; Giese, Armin; Irwin, David J; Meissner, Wassilios G; Pantelyat, Alexander; Rajput, Alex; van Swieten, John C; Troakes, Claire; Antonini, Angelo; Bhatia, Kailash P; Bordelon, Yvette; Compta, Yaroslau; Corvol, Jean-Christophe; Colosimo, Carlo; Dickson, Dennis W; Dodel, Richard; Ferguson, Leslie; Grossman, Murray; Kassubek, Jan; Krismer, Florian; Levin, Johannes; Lorenzl, Stefan; Morris, Huw R; Nestor, Peter; Oertel, Wolfgang H; Poewe, Werner; Rabinovici, Gil; Rowe, James B; Schellenberg, Gerard D; Seppi, Klaus; van Eimeren, Thilo; Wenning, Gregor K; Boxer, Adam L; Golbe, Lawrence I; Litvan, Irene

    2017-06-01

    PSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson's syndrome. We aimed to provide an evidence- and consensus-based revision of the clinical diagnostic criteria for PSP. We searched the PubMed, Cochrane, Medline, and PSYCInfo databases for articles published in English since 1996, using postmortem diagnosis or highly specific clinical criteria as the diagnostic standard. Second, we generated retrospective standardized clinical data from patients with autopsy-confirmed PSP and control diseases. On this basis, diagnostic criteria were drafted, optimized in two modified Delphi evaluations, submitted to structured discussions with consensus procedures during a 2-day meeting, and refined in three further Delphi rounds. Defined clinical, imaging, laboratory, and genetic findings serve as mandatory basic features, mandatory exclusion criteria, or context-dependent exclusion criteria. We identified four functional domains (ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction) as clinical predictors of PSP. Within each of these domains, we propose three clinical features that contribute different levels of diagnostic certainty. Specific combinations of these features define the diagnostic criteria, stratified by three degrees of diagnostic certainty (probable PSP, possible PSP, and suggestive of PSP). Clinical clues and imaging findings represent supportive features. Here, we present new criteria aimed to optimize early, sensitive, and specific clinical diagnosis of PSP on the basis of currently available evidence. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  16. Clinical features of Parkinson's disease with and without rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Liu, Ye; Zhu, Xiao-Ying; Zhang, Xiao-Jin; Kuo, Sheng-Han; Ondo, William G; Wu, Yun-Cheng

    2017-01-01

    Rapid eye movement sleep behavior disorder (RBD) and Parkinson's disease (PD) are two distinct clinical diseases but they share some common pathological and anatomical characteristics. This study aims to confirm the clinical features of RBD in Chinese PD patients. One hundred fifty PD patients were enrolled from the Parkinson`s disease and Movement Disorders Center in  Department of Neurology, Shanghai General Hospital from January 2013 to August 2014. This study examined PD patients with or without RBD as determined by the REM Sleep Behavior Disorder Screening Questionnaire (RBDSQ), assessed motor subtype by Unified PD Rating Scale (UPDRS) III at "on" state, and compared the sub-scale scores representing tremor, rigidity, appendicular and axial. Investigators also assessed the Hamilton Anxiety Scale (HAMA), Hamilton Depression Scale (HAMD), Mini-Mental State Examination (MMSE), Clinical Dementia Rating (CDR), and Parkinson's disease Sleep Scale (PDSS). One hundred fourty one PD patients entered the final study. 30 (21.28%) PD patients had probable RBD (pRBD) diagnosed with a RBDSQ score of 6 or above. There were no significant differences for age, including age of PD onset and PD duration, gender, smoking status, alcohol or coffee use, presence of anosmia or freezing, UPDRS III, and H-Y stages between the pRBD + and pRBD - groups. pRBD + group had lower MMSE scores, higher PDSS scores, and pRBD + PD patients had more prominent proportion in anxiety, depression, constipation, hallucination and a greater prevalence of orthostatic hypotension. pRBD + PD patients exhibited greater changes in non-motor symptoms. However, there was no increase in motor deficits.

  17. Electroencephalographic findings related with mild cognitive impairment in idiopathic rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Sasai, Taeko; Matsuura, Masato; Inoue, Yuichi

    2013-12-01

    Mild cognitive impairment (MCI) and electroencephalographic (EEG) slowing have been reported as common findings of idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) and α-synucleinopathies. The objective of this study is to clarify the relation between MCI and physiological markers in iRBD. Cross-sectional study. Yoyogi Sleep Disorder Center. Thirty-one patients with iRBD including 17 younger patients with iRBD (younger than 70 y) and 17 control patients for the younger patients with iRBD. N/A. Montreal Cognitive Assessment (MoCA) and n-polysomnogram (PSG) were conducted of all participants. In patients with iRBD, the factors associated with MCI were explored among parameters of REM sleep without atonia (RWA), score of Sniffin' Sticks Test (threshold-discrimination-identification [TDI] score), RBD morbidity, and RBD severity evaluated with the Japanese version of the RBD questionnaire (RBDQ-JP). The younger iRBD group showed significantly lower alpha power during wake and lower MoCA score than the age-matched control group. MCI was detected in 13 of 17 patients (76.5%) on MoCA in this group. Among patients wtih iRBD, the MoCA score negatively correlated with age, proportion of slow wave sleep, TDI score, and EEG spectral power. Multiple regression analysis provided the following equation: MoCA score = 50.871-0.116*age -5.307*log (δ power during REM sleep) + 0.086*TDI score (R² = 0.598, P sleep), and 0.357 for TDI score (F = 9.900, P sleep and olfactory dysfunction, was revealed to be associated with cognitive decline in idiopathic rapid eye movement sleep behavior disorder.

  18. Rapid eye movement sleep behavior disorder in treatment-naïve Parkinson disease patients.

    Science.gov (United States)

    Plomhause, Lucie; Dujardin, Kathy; Duhamel, Alain; Delliaux, Marie; Derambure, Philippe; Defebvre, Luc; Monaca Charley, Christelle

    2013-10-01

    Rapid eye movement (REM) sleep behavior disorder (RBD) is a risk factor for dementia in Parkinson disease (PD) patients. The objectives of our study were to prospectively evaluate the frequency of RBD in a sample of treatment-naïve, newly diagnosed PD patients and compare sleep characteristics and cognition in RBD and non-RBD groups. Fifty-seven newly diagnosed PD patients were consecutively recruited in a university medical center. All patients underwent two overnight polysomnography (PSG) sessions and were diagnosed with RBD according to the International Classification of Sleep Disorders, Second Revision criteria. Daytime sleepiness was measured in a multiple sleep latency test (MSLT). Cognition was assessed in a standard neuropsychologic examination. Seventeen PD patients (30%) met the criteria for RBD. The RBD patients and non-RBD patients did not significantly differ in mean age, gender ratio, disease duration, motor symptom subtype and severity, total sleep time, percentage of REM sleep, apnea-hypopnea index, mean oxygen saturation, and importantly cognitive performance. However, non-RBD patients had a significantly shorter mean daytime sleep latency than RBD patients (15 vs. 18 min, respectively; P=.014). A high frequency of RBD was found in our sample of 57 newly diagnosed PD patients. At this stage in the disease, RBD was not found to be associated with other sleep disorders or cognitive decline. Follow-up is needed to assess the risk for developing dementia in early-stage PD patients with RBD. Copyright © 2013 Elsevier B.V. All rights reserved.

  19. Common therapeutic mechanisms of pallidal deep brain stimulation for hypo- and hyperkinetic movement disorders

    Science.gov (United States)

    Iriki, Atsushi; Isoda, Masaki

    2015-01-01

    Abnormalities in cortico-basal ganglia (CBG) networks can cause a variety of movement disorders ranging from hypokinetic disorders, such as Parkinson's disease (PD), to hyperkinetic conditions, such as Tourette syndrome (TS). Each condition is characterized by distinct patterns of abnormal neural discharge (dysrhythmia) at both the local single-neuron level and the global network level. Despite divergent etiologies, behavioral phenotypes, and neurophysiological profiles, high-frequency deep brain stimulation (HF-DBS) in the basal ganglia has been shown to be effective for both hypo- and hyperkinetic disorders. The aim of this review is to compare and contrast the electrophysiological hallmarks of PD and TS phenotypes in nonhuman primates and discuss why the same treatment (HF-DBS targeted to the globus pallidus internus, GPi-DBS) is capable of ameliorating both symptom profiles. Recent studies have shown that therapeutic GPi-DBS entrains the spiking of neurons located in the vicinity of the stimulating electrode, resulting in strong stimulus-locked modulations in firing probability with minimal changes in the population-scale firing rate. This stimulus effect normalizes/suppresses the pathological firing patterns and dysrhythmia that underlie specific phenotypes in both the PD and TS models. We propose that the elimination of pathological states via stimulus-driven entrainment and suppression, while maintaining thalamocortical network excitability within a normal physiological range, provides a common therapeutic mechanism through which HF-DBS permits information transfer for purposive motor behavior through the CBG while ameliorating conditions with widely different symptom profiles. PMID:26180116

  20. [A cross-sectional study of the association of movement disorders, constipation and sleep disturbances among elderly in China].

    Science.gov (United States)

    Wang, Zhi-hui; Wang, Lin-hong; Li, Yi-chong; Qi, Shi-ge; Wang, Li-min

    2013-09-01

    To investigate the current status and association between movement disorders, constipation and sleep disturbances in the elderly population of China. A total of 42 353 subjects aged over 60 years old from Chinese Chronic Non-communicable Disease & Risk Factor Surveillance (2010) was selected in our study. The information on movement disorders, constipation and sleep disturbances was collected by standardized questionnaire interview. The prevalence and association of self-reported movement disorders, constipation and sleep disturbances was measured according to different gender, age groups and regions. The study was conducted among 42 353 old adults, including 21 893 males (51.7%) and 20 460 females (48.3%); 17 917 from urban areas (42.3%) and 24 436 from rural areas (57.7%); and the proportion of elderly from eastern, central and western regions were 37.9% (16 031 subjects), 29.1% (12 345 subjects) and 33.0% (13 977 subjects) respectively. After weighted complex analysis, the data showed that among the elderly population over 60 years old in China, the self-reported rates of movement disorders, constipation and sleep disturbances were all age-related, rising up with the age increasing. The rates of 60-64 age group were 2.8% (95%CI:1.9%-3.7%), 3.6% (95%CI:3.1%-4.1%) and 12.4% (95%CI:11.0%-13.8%);and in ≥ 80 age group, the rates were 13.2% (95%CI:10.2%-16.1%), 8.8% (95%CI:7.1%-10.6%) and 19.1% (95%CI:16.3%-21.9%). The self-reported rate of movement disorders was 5.7% (95%CI: 4.5%-7.0%); the prevalence of constipation was 5.1% (95%CI: 4.4%-5.7%), which was higher among women (5.8%, 95%CI: 5.0%-6.6%) than it among men (4.3%, 95%CI: 3.7%-4.8%) (χ(2) = 23.40, P constipation (16.3%, 95%CI: 12.7%-19.9%) was much higher than it in people without constipation (5.2%, 95%CI: 4.0%-6.3%) (χ(2) = 242.73, P constipation and sleep disturbances would increase the risk of movement disorders, with the OR (95%CI) at 2.93 (2.57-3.33) and 2.73 (2.48-3.02), respectively. The present

  1. The Presence of Periodic Limb Movement Disorder in a Patient with Diabetes Mellitus and Optic Atrophy (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Bo Seong Kwon

    2014-12-01

    Full Text Available Wolfram syndrome (WFS is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD, together known as DIDMOAD. This syndrome is a rare autosomal recessive neurodegenerative disorder and typically begins wtih insulin-dependent diabetes mellitus. Periodic limb movement disorder (PLMD is characterized by periodic episodes of repetitive, highly stereotyped, limb movement during sleep, which results in disturbed sleep. Its pathophysiology is unclear. It is associated with many conditions, but we were unable to find a previous report regarding WFS accompanied by PLMD. We therefore report, for the first time, about a patient with WFS presenting with PLMD and discuss its pathomechanism with a literature review.

  2. Eye-movement patterns are associated with communicative competence in autistic spectrum disorders.

    Science.gov (United States)

    Norbury, Courtenay Frazier; Brock, Jon; Cragg, Lucy; Einav, Shiri; Griffiths, Helen; Nation, Kate

    2009-07-01

    Investigations using eye-tracking have reported reduced fixations to salient social cues such as eyes when participants with autism spectrum disorders (ASD) view social scenes. However, these studies have not distinguished different cognitive phenotypes. The eye-movements of 28 teenagers with ASD and 18 typically developing peers were recorded as they watched videos of peers interacting in familiar situations. Within ASD, we contrasted the viewing patterns of those with and without language impairments. The proportion of time spent viewing eyes, mouths and other scene details was calculated, as was latency of first fixation to eyes. Finally, the association between viewing patterns and social-communicative competence was measured. Individuals with ASD and age-appropriate language abilities spent significantly less time viewing eyes and were slower to fixate the eyes than typically developing peers. In contrast, there were no differences in viewing patterns between those with language impairments and typically developing peers. Eye-movement patterns were not associated with social outcomes for either language phenotype. However, increased fixations to the mouth were associated with greater communicative competence across the autistic spectrum. Attention to both eyes and mouths is important for language development and communicative competence. Differences in fixation time to eyes may not be sufficient to disrupt social competence in daily interactions. A multiple cognitive deficit model of ASD, incorporating different language phenotypes, is advocated.

  3. Hemodynamic responses of eye movement desensitization and reprocessing in posttraumatic stress disorder.

    Science.gov (United States)

    Ohtani, Toshiyuki; Ohta ni, Toshiyuki; Matsuo, Koji; Kasai, Kiyoto; Kato, Tadafumi; Kato, Nobumasa

    2009-12-01

    Eye movement desensitization and reprocessing (EMDR) is an effective psychological intervention for posttraumatic stress disorder (PTSD). Trauma-related recall (Recall) with eye movements (EMs) is thought to reduce distress. However, the neural mechanisms underlying this process remain unknown. Thirteen patients with PTSD received EMDR treatment over the course of 2-10 weeks. We assessed the change in hemoglobin concentration in the lateral prefrontal cortex (PFC) during Recall with and without EM using multi-channel near-infrared spectroscopy (NIRS). Clinical diagnosis and improvement were evaluated using the Clinician-Administered PTSD Scale. Recall with EM was associated with a significant decrease in oxygenated hemoglobin concentration ([oxy-Hb]) in the lateral PFC as compared with Recall without EM. Longitudinally, [oxy-Hb] during Recall significantly decreased and the amount of decrease was significantly correlated with clinical improvement when the post-treatment data was compared with that of the pre-treatment. Our results suggest that performing EM during Recall reduces the over-activity of the lateral PFC, which may be part of the biological basis for the efficacy of EMDR in PTSD. NIRS may be a useful tool for objective assessment of psychological intervention in PTSD.

  4. THE IMPACT OF ATTENTIONAL FOCUS ON THE TREATMENT OF MUSCULOSKELETAL AND MOVEMENT DISORDERS.

    Science.gov (United States)

    Hunt, Christopher; Paez, Arsenio; Folmar, Eric

    2017-11-01

    Treatment plans employed by physical therapists involved in musculoskeletal rehabilitation may follow a conventional medical-model approach, isolating care at the tissue level but neglecting consideration for neurocognitive contributions to recovery. Understanding and integration of motor learning concepts into physical therapy practice is integral for influencing the human movement system in the most effective manner. One such motor learning concept is the use of verbal instruction to influence the attentional focus of the learner. Evidence suggests that encouraging an external focus of attention through verbal instruction promotes superior motor performance, and more lasting effects of a learning experience than an internal focus of attention. Utilizing an external focus of attention when instructing a patient on a motor task may facilitate improved motor performance and improved functional outcomes in treatment plans devised to address musculoskeletal injury and movement disorders. The purpose of this review is to summarize the basic principles of motor learning and available evidence on the influence an external focus of attention has on motor learning and performance, including the benefits of an external focus of attention over an internal focus of attention and how therapists may inadvertently encourage the latter. Furthermore, the benefits of possessing greater awareness of neurocognitive mechanisms are discussed to exhibit how implementing such concepts into musculoskeletal rehabilitation can maximize treatment outcomes. 5.

  5. Eye movement difficulties in autism spectrum disorder: implications for implicit contextual learning.

    Science.gov (United States)

    Kourkoulou, Anastasia; Kuhn, Gustav; Findlay, John M; Leekam, Susan R

    2013-06-01

    It is widely accepted that we use contextual information to guide our gaze when searching for an object. People with autism spectrum disorder (ASD) also utilise contextual information in this way; yet, their visual search in tasks of this kind is much slower compared with people without ASD. The aim of the current study was to explore the reason for this by measuring eye movements. Eye movement analyses revealed that the slowing of visual search was not caused by making a greater number of fixations. Instead, participants in the ASD group were slower to launch their first saccade, and the duration of their fixations was longer. These results indicate that slowed search in ASD in contextual learning tasks is not due to differences in the spatial allocation of attention but due to temporal delays in the initial-reflexive orienting of attention and subsequent-focused attention. These results have broader implications for understanding the unusual attention profile of individuals with ASD and how their attention may be shaped by learning. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.

  6. Altered nigrostriatal and nigrocortical functional connectivity in rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Ellmore, Timothy M; Castriotta, Richard J; Hendley, Katie L; Aalbers, Brian M; Furr-Stimming, Erin; Hood, Ashley J; Suescun, Jessika; Beurlot, Michelle R; Hendley, Roy T; Schiess, Mya C

    2013-12-01

    Rapid eye movement sleep behavior disorder (RBD) is a condition closely associated with Parkinson disease (PD). RBD is a sleep disturbance that frequently manifests early in the development of PD, likely reflecting disruption in normal functioning of anatomical areas affected by neurodegenerative processes. Although specific neuropathological aspects shared by RBD and PD have yet to be fully documented, further characterization is critical to discovering reliable biomarkers that predict PD onset. In the current study, we tested the hypothesis of altered functional connections of the substantia nigra (SN) in patients in whom RBD was diagnosed. Between-groups, single time point imaging. UTHSC-H 3 telsa MRI center. Ten patients with RBD, 11 patients with PD, and 10 age-matched controls. NA. We measured correlations of SN time series using resting state blood oxygen level-dependent functional magnetic resonance imaging (BOLD-fMRI) in patients with idiopathic RBD who were at risk for developing PD, patients in whom PD was diagnosed, and age-matched controls. Using voxelwise analysis of variance, different correlations (P < 0.01, whole-brain corrected) between left SN and left putamen were found in patients with RBD compared with controls and patients with PD. SN correlations with right cuneus/precuneus and superior occipital gyrus were significantly different for patients with RBD compared with both controls and patients with PD. The results suggest that altered nigrostriatal and nigrocortical connectivity characterizes rapid eye movement sleep behavior disorder before onset of obvious motor impairment. The functional changes are discussed in the context of degeneration in dopaminergic and cognition-related networks.

  7. Effect of Aggression Regulation on Eating Disorder Pathology: RCT of a Brief Body and Movement Oriented Intervention

    OpenAIRE

    Boerhout, Cees; Swart, Marte; Van Busschbach, Jooske T.; Hoek, Hans W.

    2016-01-01

    ObjectiveThe objective of the study is to evaluate the effect of a brief body and movement oriented intervention on aggression regulation and eating disorder pathology for individuals with eating disorders. MethodIn a first randomized controlled trial, 40 women were allocated to either the aggression regulation intervention plus supportive contact or a control condition of supportive contact only. The intervention was delivered by a psychomotor therapist. Participants completed questionnaires...

  8. A Systematic Review of the Effectiveness of Medical Cannabis for Psychiatric, Movement and Neurodegenerative Disorders.

    Science.gov (United States)

    Lim, Keane; See, Yuen Mei; Lee, Jimmy

    2017-11-30

    The discovery of endocannabinoid's role within the central nervous system and its potential therapeutic benefits have brought forth rising interest in the use of cannabis for medical purposes. The present review aimed to synthesize and evaluate the available evidences on the efficacy of cannabis and its derivatives for psychiatric, neurodegenerative and movement disorders. A systematic search of randomized controlled trials of cannabis and its derivatives were conducted via databases (PubMed, Embase and the Cochrane Central Register of Controlled Trials). A total of 24 reports that evaluated the use of medical cannabis for Alzheimer's disease, anorexia nervosa, anxiety, dementia, dystonia, Huntington's disease, Parkinson's disease, post-traumatic stress disorder (PTSD), psychosis and Tourette syndrome were included in this review. Trial quality was assessed with the Cochrane risk of bias tool. There is a lack of evidence on the therapeutic effects of cannabinoids for amyotrophic lateral sclerosis and dystonia. Although trials with positive findings were identified for anorexia nervosa, anxiety, PTSD, psychotic symptoms, agitation in Alzheimer's disease and dementia, Huntington's disease, and Tourette syndrome, and dyskinesia in Parkinson's disease, definitive conclusion on its efficacy could not be drawn. Evaluation of these low-quality trials, as rated on the Cochrane risk of bias tools, was challenged by methodological issues such as inadequate description of allocation concealment, blinding and underpowered sample size. More adequately powered controlled trials that examine the long and short term efficacy, safety and tolerability of cannabis for medical use, and the mechanisms underpinning the therapeutic potential are warranted.

  9. Comparison of eye movement desensitization and reprocessing with citalopram in treatment of obsessive-compulsive disorder.

    Science.gov (United States)

    Nazari, Hedayat; Momeni, Nahid; Jariani, Mojgan; Tarrahi, Mohammad Javad

    2011-11-01

    Obsessive-compulsive disorder (OCD) is one of the chronic anxiety disorders that interfere with routine individual life, occupational and social functions. There is controversy about the first choice of treatment for OCD between medication and psychotherapy. the aim was to investigate the efficacy of eye movement desensitization and reprocessing (EMDR) compared with medication by citalopram in treatment of OCD. This randomized controlled trial was carried out on 90 OCD patients that randomly were assigned into two groups. They either received therapeutic sessions of EMDR or citalopram during 12 weeks. Both groups blindly were evaluated by the Yale-Brown scale before and after the trial period. Pretreatment average Yale-Brown score of citalopram group was about 25.26 as well as 24.83 in EMDR group. The after treatment scores were 19.06 and 13.6, respectively. There was significant difference between the mean Yale-Brown scores of the two groups after treatment and EMDR was more effective than citalopram in improvement of OCD signs. It is concluded that although both therapeutic methods (EMDR and Citalopram) had significant effect in improving obsessive signs but it seems that in short term EMRD has better effect in improvement of final outcome of OCD.

  10. Dissociation predicts treatment response in eye-movement desensitization and reprocessing for posttraumatic stress disorder.

    Science.gov (United States)

    Bae, Hwallip; Kim, Daeho; Park, Yong Chon

    2016-01-01

    Using clinical data from a specialized trauma clinic, this study investigated pretreatment clinical factors predicting response to eye-movement desensitization and reprocessing (EMDR) among adult patients diagnosed with posttraumatic stress disorder (PTSD). Participants were evaluated using the Clinician-Administered PTSD Scale (CAPS), the Symptom Checklist-90-Revised, the Beck Depression Inventory, and the Dissociative Experiences Scale before treatment and were reassessed using the CAPS after treatment and at 6-month follow-up. A total of 69 patients underwent an average of 4 sessions of EMDR, and 60 (87%) completed the posttreatment evaluation, including 8 participants who terminated treatment prematurely. Intent-to-treat analysis revealed that 39 (65%) of the 60 patients were classified as responders and 21 (35%) as nonresponders when response was defined as more than a 30% decrease in total CAPS score. The nonresponders had higher levels of dissociation (depersonalization and derealization) and numbing symptoms, but other PTSD symptoms, such as avoidance, hyperarousal, and intrusion, were not significantly different. The number of psychiatric comorbidities was also associated with treatment nonresponse. The final logistic regression model yielded 2 significant variables: dissociation (p < .001) and more than 2 comorbidities compared to none (p < .05). These results indicate that complex symptom patterns in PTSD may predict treatment response and support the inclusion of the dissociative subtype of PTSD in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition.

  11. Neurophysiological basis of rapid eye movement sleep behavior disorder: informing future drug development

    Science.gov (United States)

    Jennum, Poul; Christensen, Julie AE; Zoetmulder, Marielle

    2016-01-01

    Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by a history of recurrent nocturnal dream enactment behavior and loss of skeletal muscle atonia and increased phasic muscle activity during REM sleep: REM sleep without atonia. RBD and associated comorbidities have recently been identified as one of the most specific and potentially sensitive risk factors for later development of any of the alpha-synucleinopathies: Parkinson’s disease, dementia with Lewy bodies, and other atypical parkinsonian syndromes. Several other sleep-related abnormalities have recently been identified in patients with RBD/Parkinson’s disease who experience abnormalities in sleep electroencephalographic frequencies, sleep–wake transitions, wake and sleep stability, occurrence and morphology of sleep spindles, and electrooculography measures. These findings suggest a gradual involvement of the brainstem and other structures, which is in line with the gradual involvement known in these disorders. We propose that these findings may help identify biomarkers of individuals at high risk of subsequent conversion to parkinsonism. PMID:27186147

  12. Neurophysiological basis of rapid eye movement sleep behavior disorder: informing future drug development

    Directory of Open Access Journals (Sweden)

    Jennum P

    2016-04-01

    Full Text Available Poul Jennum, Julie AE Christensen, Marielle Zoetmulder Department of Clinical Neurophysiology, Faculty of Health Sciences, Danish Center for Sleep Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark Abstract: Rapid eye movement (REM sleep behavior disorder (RBD is a parasomnia characterized by a history of recurrent nocturnal dream enactment behavior and loss of skeletal muscle atonia and increased phasic muscle activity during REM sleep: REM sleep without atonia. RBD and associated comorbidities have recently been identified as one of the most specific and potentially sensitive risk factors for later development of any of the alpha-synucleinopathies: Parkinson’s disease, dementia with Lewy bodies, and other atypical parkinsonian syndromes. Several other sleep-related abnormalities have recently been identified in patients with RBD/Parkinson’s disease who experience abnormalities in sleep electroencephalographic frequencies, sleep–wake transitions, wake and sleep stability, occurrence and morphology of sleep spindles, and electrooculography measures. These findings suggest a gradual involvement of the brainstem and other structures, which is in line with the gradual involvement known in these disorders. We propose that these findings may help identify biomarkers of individuals at high risk of subsequent conversion to parkinsonism. Keywords: motor control, brain stem, hypothalamus, hypocretin

  13. Why do people google movement disorders? An infodemiological study of information seeking behaviors.

    Science.gov (United States)

    Brigo, Francesco; Erro, Roberto

    2016-05-01

    Millions of people worldwide everyday search Google or Wikipedia to look for health-related information. Aim of this study was to evaluate and interpret web search queries for terms related to movement disorders (MD) in English-speaking countries and their changes over time. We analyzed information regarding the volume of online searches in Google and Wikipedia for the most common MD and their treatments. We determined the highest search volume peaks to identify possible relation with online news headlines. The volume of searches for some queries related to MD entered in Google enormously increased over time. Most queries were related to definition, subtypes, symptoms and treatment (mostly to adverse effects, or alternatively, to possible alternative treatments). The highest peaks of MD search queries were temporally related to news about celebrities suffering from MD, to specific mass-media events or to news concerning pharmaceutic companies or scientific discoveries on MD. An increasing number of people use Google and Wikipedia to look for terms related to MD to obtain information on definitions, causes and symptoms, possibly to aid initial self-diagnosis. MD information demand and the actual prevalence of different MDs do not travel together: web search volume may mirrors patients' fears and worries about some particular disorders perceived as more serious than others, or may be driven by release of news about celebrities suffering from MD, "breaking news" or specific mass-media events regarding MD.

  14. Just a scary dream? A brief review of sleep terrors, nightmares, and rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Haupt, Mark; Sheldon, Stephen H; Loghmanee, Darius

    2013-10-01

    The clinical spectrum of sleep disorders in children is broad, ranging from primary snoring and obstructive sleep apnea (OSA) syndrome to complex sleep-related behaviors and movement disorders. Although snoring and OSA typically receive significant attention and discussion, other biologically based sleep disorders are as common, if not more common, in children. A general pediatrician is frequently presented with the complaint of sleep talking, sleep walking, or abnormal movements during sleep. Even more alarming is the presentation of the child suddenly and explosively screaming during sleep. Such complaints fall under the category of parasomnias. Exclusive to sleep and wake-to-sleep transitions, these parasomnias include arousals with abnormal motor, behavioral, autonomic, or sensory symptoms. Parasomnias can be noticeably dissimilar in clinical manifestations, but most share biologic characteristics. Three parasomnias associated with loud vocalizations associated with sleep that can present to general practitioners include sleep terrors, nightmares, and rapid eye movement sleep behavior disorder (RBD). Although usually benign, these sleep disorders can be disruptive and even potentially dangerous to the patient and can often be threatening to quality of life. In this article, we describe the clinical features of some of these disorders and how to differentiate between their alarming presentations. Copyright 2013, SLACK Incorporated.

  15. Physical Activity into Socialization: A Movement-Based Social Skills Program for Children with Autism Spectrum Disorder

    Science.gov (United States)

    Lee, Jihyun; Vargo, Kristina K.

    2017-01-01

    Children with autism spectrum disorder (ASD) often exhibit deficits in social-communicative behaviors. Given the increased prevalence of children with ASD, programs designed to teach social-communicative behaviors are necessary. This article introduces a movement-based program that embeds social-skill components to improve the motor skills and…

  16. Impaired Recognition of Emotions from Body Movements Is Associated with Elevated Motion Coherence Thresholds in Autism Spectrum Disorders

    Science.gov (United States)

    Atkinson, Anthony P.

    2009-01-01

    Recent research has confirmed that individuals with autism spectrum disorder (ASD) have difficulties in recognizing emotions from body movements. Difficulties in perceiving coherent motion are also common in ASD. Yet it is unknown whether these two impairments are related. Thirteen adults with ASD and 16 age- and IQ-matched typically developing…

  17. Rare inborn errors of metabolism with movement disorders : a case study to evaluate the impact upon quality of life and adaptive functioning

    NARCIS (Netherlands)

    Eggink, Hendriekje; Kuiper, Anouk; Peall, Kathryn J.; Contarino, Maria Fiorella; Bosch, Annet M.; Post, Bart; Sival, Deborah A.; Tijssen, Marina A. J.; de Koning, Tom J.

    2014-01-01

    Background: Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life (HRQOL) and its physical and psychosocial domains of functioning has never been

  18. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

    NARCIS (Netherlands)

    Eggink, Hendriekje; Kuiper, Anouk; Peall, Kathryn J.; Contarino, Maria Fiorella; Bosch, Annet M.; Post, Bart; Sival, Deborah A.; Tijssen, Marina A. J.; de Koning, Tom J.

    2014-01-01

    Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life (HRQOL) and its physical and psychosocial domains of functioning has never been investigated.

  19. Vertical and horizontal smooth pursuit eye movements in children with developmental coordination disorder.

    Science.gov (United States)

    Robert, Matthieu P; Ingster-Moati, Isabelle; Albuisson, Eliane; Cabrol, Dominique; Golse, Bernard; Vaivre-Douret, Laurence

    2014-06-01

    Our aim was to study horizontal and vertical smooth pursuit eye movements in children with developmental coordination disorder (DCD). Horizontal and vertical smooth pursuit eye movements of 91 children were studied using electro-oculography: 27 children with DCD (23 males, four females), according to the DSM-IV-TR criteria, and 64 comparison children (26 males, 38 females). All children were 7 to 12 years old (mean 9y, SD 1.5y). Among the group of children with DCD, eight had received intervention. Intervention exercised static and dynamic fixation, saccades, visual strategies, visuospatial abilities, and eye-hand coordination. A smooth pursuit gain index was calculated and statistical comparisons were made between the two groups of children. Horizontal pursuit gain was similar in both populations, but vertical pursuit gain was significantly impaired (page as covariate), i.e. more saccadic in children with DCD (18-99%; n=27, mean 51.6%, median 48.5%, SD 23.2%) than in comparison participants (35-97%; n=63, mean 66.4%, median 65.0%, SD 15.4%). Among the DCD group, the vertical pursuit index was also significantly higher (p=0.009) in the intervention subgroup (29-99%; n=8, mean 69.4%, median 75.5%, SD 28.7%) than in the non-intervention subgroup (18-74%; n=19, mean 44.1%, median 42.5%, SD 15.9%). These results suggest a delay in the maturation of the pursuit system in children with DCD. © 2014 Mac Keith Press.

  20. Effect of Aggression Regulation on Eating Disorder Pathology: RCT of a Brief Body and Movement Oriented Intervention.

    Science.gov (United States)

    Boerhout, Cees; Swart, Marte; Van Busschbach, Jooske T; Hoek, Hans W

    2016-03-01

    The objective of the study is to evaluate the effect of a brief body and movement oriented intervention on aggression regulation and eating disorder pathology for individuals with eating disorders. In a first randomized controlled trial, 40 women were allocated to either the aggression regulation intervention plus supportive contact or a control condition of supportive contact only. The intervention was delivered by a psychomotor therapist. Participants completed questionnaires on anger coping and eating disorder pathology. Independent samples t-tests were performed on the difference between pre-treatment and post-treatment scores. Twenty-nine participants completed questionnaires at pre-intervention and post-intervention. The intervention resulted in a significantly greater improvement of anger coping, as well as of eating disorder pathology. Results indicate that body and movement-oriented aggression regulation may be a viable add-on for treating eating disorders. It tackles a difficult to treat emotion which may have a role in blocking the entire process of treating eating disorders. Copyright © 2015 John Wiley & Sons, Ltd and Eating Disorders Association.

  1. Link Between Parkinson Disease and Rapid Eye Movement Sleep Behavior Disorder With Dream Enactment: Possible Implications for Early Rehabilitation.

    Science.gov (United States)

    Johnson, Brian P; Westlake, Kelly P

    2018-02-01

    The purpose of this article is 2-fold: first, to inform readers of the link between the loss of motor inhibition during rapid eye movement (REM) sleep dreaming, diagnosed as REM sleep behavior disorder, and the future onset of neurodegenerative disorders, such as Parkinson disease and dementia with Lewy bodies; it has been reported that motor disinhibition during REM sleep often precedes the onset of these disorders by years or even decades; second, to consider that the identification of REM sleep behavior disorder and the early involvement of rehabilitation and/or development of home exercise plans may aid in prolonging and even increasing function, independence, and quality of life, should such neurodegenerative disorders develop later in life. Copyright © 2017 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  2. Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

    DEFF Research Database (Denmark)

    Ferrari, Raffaele; Wang, Yunpeng; Vandrovcova, Jana

    2017-01-01

    BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap betwee...

  3. Validation of an integrated software for the detection of rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Frauscher, Birgit; Gabelia, David; Biermayr, Marlene; Stefani, Ambra; Hackner, Heinz; Mitterling, Thomas; Poewe, Werner; Högl, Birgit

    2014-10-01

    Rapid eye movement sleep without atonia (RWA) is the polysomnographic hallmark of REM sleep behavior disorder (RBD). To partially overcome the disadvantages of manual RWA scoring, which is time consuming but essential for the accurate diagnosis of RBD, we aimed to validate software specifically developed and integrated with polysomnography for RWA detection against the gold standard of manual RWA quantification. Academic referral center sleep laboratory. Polysomnographic recordings of 20 patients with RBD and 60 healthy volunteers were analyzed. N/A. Motor activity during REM sleep was quantified manually and computer assisted (with and without artifact detection) according to Sleep Innsbruck Barcelona (SINBAR) criteria for the mentalis ("any," phasic, tonic electromyographic [EMG] activity) and the flexor digitorum superficialis (FDS) muscle (phasic EMG activity). Computer-derived indices (with and without artifact correction) for "any," phasic, tonic mentalis EMG activity, phasic FDS EMG activity, and the SINBAR index ("any" mentalis + phasic FDS) correlated well with the manually derived indices (all Spearman rhos 0.66-0.98). In contrast with computerized scoring alone, computerized scoring plus manual artifact correction (median duration 5.4 min) led to a significant reduction of false positives for "any" mentalis (40%), phasic mentalis (40.6%), and the SINBAR index (41.2%). Quantification of tonic mentalis and phasic FDS EMG activity was not influenced by artifact correction. The computer algorithm used here appears to be a promising tool for REM sleep behavior disorder detection in both research and clinical routine. A short check for plausibility of automatic detection should be a basic prerequisite for this and all other available computer algorithms. © 2014 Associated Professional Sleep Societies, LLC.

  4. Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Gasca-Salas, Carmen; Masellis, Mario; Khoo, Edwin; Shah, Binit B; Fisman, David; Lang, Anthony E; Kleiner-Fisman, Galit

    2016-01-01

    Mutations in granulin (PGRN) and tau (MAPT), and hexanucleotide repeat expansions near the C9orf72 genes are the most prevalent genetic causes of frontotemporal lobar degeneration. Although behavior, language and movement presentations are common, the relationship between genetic subgroup and movement disorder phenomenology is unclear. We conducted a systematic review and meta-analysis of the literature characterizing the spectrum and prevalence of movement disorders in genetic frontotemporal lobar degeneration. Electronic databases were searched using terms related to frontotemporal lobar degeneration and movement disorders. Articles were included when cases had a proven genetic cause. Study-specific prevalence estimates for clinical features were transformed using Freeman-Tukey arcsine transformation, allowing for pooled estimates of prevalence to be generated using random-effects models. The mean age at onset was earlier in those with MAPT mutations compared to PGRN (pphenomenology in genetic frontotemporal lobar degeneration. Standardized prospective collection of clinical information in conjunction with genetic characterization will be crucial for accurate clinico-genetic correlation.

  5. Does Chronic Administration of Sodium Valproate to Juvenile Rats Induce Movement Disorder and Cognitive Dysfunction during Adulthood?

    Directory of Open Access Journals (Sweden)

    Namitha Nair

    2018-01-01

    Full Text Available Background: Children with seizure disorder are often treated with sodium valproate (SV on long-term basis. SV acts mainly through gamma amino butyric acid pathways, reducing the excitatory neurotransmission and modifying the monoamine concentration. Altered monoamine concentration by SV is expected to cause movement disorder and cognitive dysfunction, considered reversible after the withdrawal of treatment, but some claim it to be irreversible. It is not clear whether such adverse effects continue during adulthood. The aim of this study was to investigate whether chronic administration of SV in juvenile rats causes movement disorder and cognitive dysfunction during their early adulthood. Methods: Sixteen-day-old male Wistar rats from the central animal house, KMC, Mangalore, India in 2015, received either 200 or 400 mg/kg dose of SV for 45 consecutive days and another group served as control. Thirty days after discontinuation of the drug, at postnatal day 90, the rats were tested for movement disorder and cognitive function. Results: Chronic SV treatment in juvenile rats resulted in slow movement, tremors during adulthood but did not affect muscle tone, locomotor and exploratory activities. It also caused cognitive dysfunction in adult rats. Conclusion: Despite the reported safety of chronic SV therapy, its adverse effects such as Parkinsonism symptoms or cognitive dysfunctions should be of concern in all young patients treated with SV for many years. Persistence of cognitive impairment, tremors and generalized slow movement during adulthood after cessation of treatment that was observed in this study, warrants a close monitoring system in children who receive long-term sodium valproate.

  6. Early Controversies over Athetosis: I. Clinical Features, Differentiation from other Movement Disorders, Associated Conditions, and Pathology

    Directory of Open Access Journals (Sweden)

    Douglas J. Lanska

    2013-03-01

    Full Text Available Background: Since the description of athetosis in 1871 by American neurologist William Alexander Hammond (1828-1900 the disorder has been a source of controversy, as were many aspects of Hammond’s career.  Methods: Review of controversies in the semi-centennial since the description of athetosis.  Results: Hammond struggled to establish athetosis as a distinct clinic-pathological entity, and had successfully predicted the striatal pathology in his initial case (albeit somewhat serendipitously.  Athetosis was, nevertheless, considered by many neurologists to be a form of post-hemiplegic chorea or part of a continuum between chorea and dystonia. European neurologists, and particularly the French, initially ignored or discounted the concept. Additional controversies arose over whether the movements persisted during sleep, whether athetosis was, or could be, associated with imbecility or insanity, and how it should be treated. Discussion: Some controversies concerning athetosis served to identify areas where knowledge was insufficient to make accurate statements, despite prior self-assured or even dogmatic statements to the contrary.  Other controversies illustrated established prejudices, even if these biases were often only apparent with the greater detachment of hindsight. 

  7. Movement disorders secondary to long-term treatment with cyclosporine A.

    Science.gov (United States)

    Munhoz, Renato P; Teive, Helio A G; Germiniani, Francisco M B; Gerytch, Júlio C; Sá, Daniel S; Bittencourt, Marco A; Pasquini, Ricardo; Camargo, Carlos H F; Werneck, Lineu César

    2005-09-01

    To analyze the prevalence, severity and functional interference of movement disorders (MD) secondary to chronic use of cyclosporine A (CsA). We conducted a cross-sectional study of 60 patients (58.3% male) with mean age 23.1 (3-75) years, followed at the Bone Marrow Transplantation Service of the Hospital de Clínicas of the Federal University of Paraná, Brazil, taking CsA for at least six months. Our protocol included clinical data, assessment of functional interference of symptoms and neurological examination including observation and grading of MD. Eight (13.3%) subjects reported the presence of tremor at the moment of interview and 29 (48.3%) recalled this symptom at some point during treatment. Neurological examination identified 14 (23.3%) subjects with MD: upper limb symmetric action tremor in 13 (21.6%) and parkinsonism (rigidity and bradykinesia) in 1 (1.7%). No other MD was detected. The mean scores indicated mild clinical signs in all cases. Symptoms were considered subjectively mild with no functional interference. Almost one quarter of patients using CsA chronically presented MD, almost always mild and transitory action tremor, with minimal interference on daily living activities, not requiring any form of intervention in the majority of cases.

  8. Apathy in rapid eye movement sleep behaviour disorder is common and under-recognized.

    Science.gov (United States)

    Barber, T R; Muhammed, K; Drew, D; Lawton, M; Crabbe, M; Rolinski, M; Quinnell, T; Zaiwalla, Z; Ben-Shlomo, Y; Husain, M; Hu, M T M

    2018-03-01

    Apathy is an important neuropsychiatric feature of Parkinson's disease (PD), which often emerges before the onset of motor symptoms. Patients with rapid eye movement sleep behaviour disorder (RBD) have a high probability of developing PD in future. Neuropsychiatric problems are common in RBD, but apathy has not previously been detailed in this key prodromal population. Eighty-eight patients with polysomnographically proven RBD, 65 patients with PD and 33 controls were assessed for apathy using the Lille Apathy Rating Scale. Cognition and depression were also quantified. The sensitivity of the Unified Parkinson's Disease Rating Scale screening questions for apathy and depression was calculated. A total of 46% of patients with RBD were apathetic, compared with 31% of patients with PD in our sample. Most patients with RBD with depression were apathetic but more than half of apathetic patients were not depressed. The sensitivity of the single Unified Parkinson's Disease Rating Scale screening question was only 33% for mild apathy and 50% for severe apathy. Apathy is common in RBD and is underestimated by a single self-report question. Recognition of apathy as a distinct neuropsychiatric feature in RBD could aid targeted treatment interventions and might contribute to the understanding of prodromal PD. © 2017 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.

  9. Rapid eye movement sleep behaviour disorder and striatal dopamine depletion in patients with Parkinson's disease.

    Science.gov (United States)

    Chung, S J; Lee, Y; Lee, J J; Lee, P H; Sohn, Y H

    2017-10-01

    Rapid eye movement sleep behaviour disorder (RBD) is related to striatal dopamine depletion. This study was performed to confirm whether clinically probable RBD (cpRBD) in patients with Parkinson's disease (PD) is associated with a specific pattern of striatal dopamine depletion. A prospective survey was conducted using the RBD Screening Questionnaire (RBDSQ) in 122 patients with PD who had undergone dopamine transporter (DAT) positron emission tomography scan. Patients with cpRBD (RBDSQ ≥ 7) exhibited greater motor deficits, predominantly in the less-affected side and axial symptoms, and were prescribed higher levodopa-equivalent doses at follow-up than those without cpRBD (RBDSQ ≤ 4), despite their similar disease and treatment durations. Compared to patients without cpRBD, those with cpRBD showed lower DAT activities in the putamen, particularly in the less-affected side in all putaminal subregions, and a tendency to be lower in the ventral striatum. In addition, greater motor deficits in patients with cpRBD than in those without cpRBD remained significant after controlling for DAT binding in the putamen and other confounding variables. These results demonstrated that the presence of RBD in patients with PD is associated with different patterns of both motor deficit distribution and striatal DAT depletion, suggesting that the presence of RBD represents a distinct PD subtype with a malignant motor parkinsonism. © 2017 EAN.

  10. Does treatment of paradoxical vocal fold movement disorder decrease asthma medication use?

    Science.gov (United States)

    Kramer, Scott; deSilva, Brad; Forrest, L Arick; Matrka, Laura

    2017-07-01

    To determine whether diagnosis and treatment of paradoxical vocal fold movement disorder (PVFMD) leads to decreased asthma medication use. Secondary objectives include determining initial rate of asthma medication use, characterizing symptom improvement, and correlating with pulmonary function testing (PFT). Prospective observational study. Patients newly diagnosed with PVFMD at a single institution were recruited to participate. Medication questionnaires were completed at the initial visit, at the first return visit for therapy, and at 6 months. PFTs were reviewed when available. Sixty-six patients were recruited; the study was closed early because findings reached significance. Fifty-six patients (85%) were taking asthma medication at presentation. Forty-four patients presented with PFTs, and two-thirds were normal. Forty-two patients completed follow-up questionnaires; 79% decreased asthma medication use (P medication use between these groups. Outcomes did not vary based on PFT pattern (i.e., obstructive vs. nonobstructive, P = .75). Diagnosis and treatment of PVFMD lead to a decline in asthma medication use. This decrease occurred alongside symptom improvement and irrespective of PFT findings. Use of asthma medication in this patient population is high, at 85%. 4. Laryngoscope, 127:1531-1537, 2017. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  11. Evaluation of Alternatives to Integrate Special Transportation Services for People with Movement Disorders

    Directory of Open Access Journals (Sweden)

    Verseckiene Alina

    2017-12-01

    Full Text Available Integrating the most appropriate special transportation service for people with movement disorders model may result in great economy efficiency and social benefit balance. However, most existing researches are based on improving the accessibility of public transport services or development of routing and scheduling under stochastic input data. The aim of this paper is to project the evaluation algorithm for the purpose of assessing the appropriate model of integration which would enable the employment of existing resources and filling the gap in assurance the mobility needs of people with mobility impairments. This paper identifies the evaluation indicators which are selected from international publications. Firstly the performance indicators of special transportation services were selected, further the sustainable development of public transport services evaluation indicators were selected, classified and adjusted to the goal of this paper. As a final result of indicators selection, a set of indicators classified into two groups - cost and benefit - was carried out. The decision making is based on Fuzzy Analytic Hierarchy Process and Fuzzy Technique for Order Preference by Similarity to Ideal Solution methods. A case study is provided to demonstrate the application of proposed evaluation algorithm.

  12. [Syndrome of rapid eye movement sleep behavior disorder and nocturia in Parkinson's disease].

    Science.gov (United States)

    Nodel, M R; Ukraintseva, Yu V; Yakhno, N N

    Parasomnia, a syndrome of rapid eye movement sleep behavior disorder (RBD), is a common non-motor impairment in patients with Parkinson's disease (PD). The relationship between RBD with other symptoms of PD affecting night sleep, in particular, nocturia, is understudied. An aim of the study was to determine the symptoms related to night sleep disturbances in PD patients with RBD and assess the dynamics of these disturbances with the disease progression taking into account RBD onset. One hundred and forty patients (72 male and 68 female) with PD without dementia (mean age 61.98±0.79 years, PD stage - 2.35±0.05, duration 5.82±90.65 years) were examined. Motor disorders were assessed with the unified Parkinson's disease rating scale (UPDRS), sleep disturbances and frequent night urinations were evaluated with the Parkinson's Disease Sleep Scale (PDSS). The diagnosis of probable RBD was based on reports of patients or their relatives on the dream-related motor activity and vocalization. Quality-of-life was evaluated with the Parkinson's Disease Questionnaire (PDQ-39). Patients were followed up after 2.5 years. Probable RBD was diagnosed in 46.43% of patients, including 30.77%, who developed the syndrome before the manifestation of motor symptoms, 16.92% patients with simultaneous development of RBD and motor symptoms and 52.31% with RBD development >2 years after motor disorders. Patients with RBD differed from those without parasomnia by the higher severity of nocturia. After 2.5 years of follow-up, the severity of disease was greater in patients with RBD assessed by UPDRS, quality-of-life indices, severity of nocturia and episodes of nocturia. The highest frequency of episodes of nocturia was noted in patients with early onset of RBD before the manifestation of motor symptoms. RBD in patients with PD is associated with the rapid progress of nocturia, higher degree of worsening of daily activities and deterioration of quality of life. The relationship between RBD

  13. The differences of movement between children at risk of developmental coordination disorder and those not at risk

    Directory of Open Access Journals (Sweden)

    Adrián Agricola

    2015-09-01

    Full Text Available Background: Developmental coordination disorder (DCD is a syndrome unexplained by medical condition, which is marked by defects in the development of motor coordination. Children with this impairment are more dependent on visual information to perform movements than their typically developing (TD peers. Objective: The main aim of the research was to create a checklist for the evaluation of the head and limb movement while walking. After that, based on this tool, to find differences in the movement of various body segments in children at risk of DCD (DCDr compared to typically developing children under different visual conditions. Methods: A total of 32 children aged 8.7 ± 1.1 years participated in this study. The Movement Assessment Battery for Children - 2nd edition (MABC-2 was used to make a classification of motor competence level of the participants. PLATO goggles were used to make four different visual conditions. All trials were recorded. Based on the video analysis we completed a qualitative checklist. Results: The analysis between the children from the DCDr group and TD children showed significant differences in the head (p = .023 and the arm (p = .005 movements, in body position (p = .002 and total summary score (p = .001. The main effects of visual conditions showed significant differences in all cases; in the head (p = .015, with the arm (p = .006, trunk (p =  .009, leg (p = .001 movements, in body position (p = .001 and also in the total summary score (p = .001. The interaction between groups and visual conditions was significant in leg movements (p = .007 and body position (p = .002. Conclusions: This study has shown which movements of body segments are most affected by different visual conditions and how children at risk of DCD are dependent on visual perception.

  14. High-speed video gait analysis reveals early and characteristic locomotor phenotypes in mouse models of neurodegenerative movement disorders.

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    Preisig, Daniel F; Kulic, Luka; Krüger, Maik; Wirth, Fabian; McAfoose, Jordan; Späni, Claudia; Gantenbein, Pascal; Derungs, Rebecca; Nitsch, Roger M; Welt, Tobias

    2016-09-15

    Neurodegenerative diseases of the central nervous system frequently affect the locomotor system resulting in impaired movement and gait. In this study we performed a whole-body high-speed video gait analysis in three different mouse lines of neurodegenerative movement disorders to investigate the motor phenotype. Based on precise computerized motion tracking of all relevant joints and the tail, a custom-developed algorithm generated individual and comprehensive locomotor profiles consisting of 164 spatial and temporal parameters. Gait changes observed in the three models corresponded closely to the classical clinical symptoms described in these disorders: Muscle atrophy due to motor neuron loss in SOD1 G93A transgenic mice led to gait characterized by changes in hind-limb movement and positioning. In contrast, locomotion in huntingtin N171-82Q mice modeling Huntington's disease with basal ganglia damage was defined by hyperkinetic limb movements and rigidity of the trunk. Harlequin mutant mice modeling cerebellar degeneration showed gait instability and extensive changes in limb positioning. Moreover, model specific gait parameters were identified and were shown to be more sensitive than conventional motor tests. Altogether, this technique provides new opportunities to decipher underlying disease mechanisms and test novel therapeutic approaches. Copyright © 2016 Elsevier B.V. All rights reserved.

  15. STOP-Bang Questionnaire in Patients with Rapid Eye Movement Sleep Behavior Disorder

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    Ki-Hwan Ji

    2017-12-01

    Full Text Available Background and Objective The snoring, tiredness, observed apnea, and high blood pressure– body mass index, age, neck circumference, and gender (STOP-Bang questionnaire is known as a simple but useful tool for the diagnosis of high-risk obstructive sleep apnea (OSA. However, the utility of STOP-Bang questionnaire in rapid eye movement (REM sleep behavior disorder (RBD populations is not validated. This study aimed to determine the diagnostic value of the STOP-Bang questionnaire in patients with RBD at high risk for OSA. Methods We collected data from 65 consecutive patients who were diagnosed with RBD in a tertiary sleep center (20 women; mean age, 64.3 ± 12.5 years. All the patients visited sleep center with complaints of abnormal behavior during sleep, and underwent testing with STOP-Bang questionnaire and polysomnography. The diagnosis of RBD was based on the International Classification of Sleep Disorders, second edition. We diagnosed OSA when apnea-hypopnea index (AHI was at least 5/h. The receiver operating characteristic (ROC curves were plotted. Results The mean AHI was 18.2 ± 16.5/h, and 75.4% (n = 49 had an AHI ≥ 5. The STOP-Bang (threshold ≥ 3 identified 70.7% of patients as high risk for OSA, and sensitivity, specificity, positive and negative predictive values were 81.6, 62.5, 87, and 52.6%, respectively. The area under the ROC curve (AUC was 0.79 (p < 0.001. The STOP (threshold ≥ 2 identified 70.7% of patients at high risk for OSA, and sensitivity, specificity, positive and negative predictive values were 75.5, 87.5, 94.9, and 53.8%, respectively. The AUC was 0.86 (p < 0.001. A pairwise comparison of ROC curve between STOP-Bang and STOP was insignificant (p = 0.145. Conclusions In RBD population, the STOP-Bang or STOP questionnaire is a useful screening tool to identify patients at high risk for OSA.

  16. Hippotherapy--an intervention to habilitate balance deficits in children with movement disorders: a clinical trial.

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    Silkwood-Sherer, Debbie J; Killian, Clyde B; Long, Toby M; Martin, Kathy S

    2012-05-01

    Clinical observations have suggested that hippotherapy may be an effective strategy for habilitating balance deficits in children with movement disorders. However, there is limited research to support this notion. The purposes of this study were to assess the effectiveness of hippotherapy for the management of postural instability in children with mild to moderate balance problems and to determine whether there is a correlation between balance and function. A repeated-measures design for a cohort of children with documented balance deficits was used. Sixteen children (9 boys and 7 girls) who were 5 to 16 years of age and had documented balance problems participated in this study. Intervention consisted of 45-minute hippotherapy sessions twice per week for 6 weeks. Two baseline assessments and 1 postintervention assessment of balance, as measured with the Pediatric Balance Scale (PBS), and of function, as measured with the Activities Scale for Kids-Performance (ASKp), were performed. With the Friedman analysis of variance, the PBS and the ASKp were found to be statistically significant across all measurements (Phippotherapy. A Spearman rho correlation of .700 indicated a statistical association between PBS and ASKp postintervention scores (P=.003). There was no correlation between the change in PBS scores and the change in ASKp scores (r(s)=.13, P>.05). Lack of a control group and the short duration between baseline assessments are study limitations. The findings suggest that hippotherapy may be a viable strategy for reducing balance deficits and improving the performance of daily life skills in children with mild to moderate balance problems.

  17. Fundamental movement skills proficiency in children with developmental coordination disorder: does physical self-concept matter?

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    Yu, Jie; Sit, Cindy H P; Capio, Catherine M; Burnett, Angus; Ha, Amy S C; Huang, Wendy Y J

    2016-01-01

    The purpose of this study was to (1) examine differences in fundamental movement skills (FMS) proficiency, physical self-concept, and physical activity in children with and without developmental coordination disorder (DCD), and (2) determine the association of FMS proficiency with physical self-concept while considering key confounding factors. Participants included 43 children with DCD and 87 age-matched typically developing (TD) children. FMS proficiency was assessed using the Test of Gross Motor Development - second edition. Physical self-concept and physical activity were assessed using self-report questionnaires. A two-way (group by gender) ANCOVA was used to determine whether between-group differences existed in FMS proficiency, physical self-concept, and physical activity after controlling for age and BMI. Partial correlations and hierarchical multiple regression models were used to examine the relationship between FMS proficiency and physical self-concept. Compared with their TD peers, children with DCD displayed less proficiency in various components of FMS and viewed themselves as being less competent in physical coordination, sporting ability, and physical health. Physical coordination was a significant predictor of ability in object control skills. DCD status and gender were significant predictors of FMS proficiency. Future FMS interventions should target children with DCD and girls, and should emphasize improving object control skills proficiency and physical coordination. Children with DCD tend to have not only lower FMS proficiency than age-matched typically developing children but also lower physical self-concept. Self-perceptions of physical coordination by children with DCD are likely to be valuable contributors to development of object control skills. This may then help to develop their confidence in performing motor skills. Children with DCD need supportive programs that facilitate the development of object control skills. Efficacy of training

  18. [Movement therapy. With special reference to functional disorders of the locomotor system].

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    Oliveri, M; Gamper, U; Hagmann, H; Hofer, H O; Huber, E; Zahnd, F

    1992-03-17

    Physical therapy by movements is of importance in several medical fields, in particular in rehabilitation. A great variety of possibilities for treatment by exercises and manual therapy exists. In a first part we outline a useful and problem-oriented nomenclature derived from actual applications of physical therapy by movements based on various concepts. The bases and applications of functional therapy by movements, by training or manipulative procedures as well as other therapeutic means are presented. The therapeutic climate and the relation between doctor and physiotherapist are briefly explored. In a second part we present the most important traditional concepts of treatment by movements in a more detailed way.

  19. Neuroprotective Effects of Exercise on Brain Edema and Neurological Movement Disorders Following the Cerebral Ischemia and Reperfusion in Rats.

    Science.gov (United States)

    Shamsaei, Nabi; Erfani, Soheila; Fereidoni, Masoud; Shahbazi, Ali

    2017-01-01

    Cerebral ischemia and reperfusion causes physiological and biochemical changes in the neuronal cells that will eventually lead to cell damage. Evidence indicates that exercise reduces the ischemia and reperfusion-induced brain damages in animal models of stroke. In the present study, the effect of exercise preconditioning on brain edema and neurological movement disorders following the cerebral ischemia and reperfusion in rats was investigated. Twenty-one adult male wistar rats (weighing 260-300 g) were randomly divided into three groups: sham operated, exercise plus ischemia, and ischemia group (7 rats per group). The rats in exercise group were trained to run on a treadmill 5 days a week for 4 weeks. Transient focal cerebral ischemia and reperfusion were induced by middle cerebral artery occlusion (MCAO) for 60 minutes, followed by reperfusion for 23 hours. After 24 hours ischemia, movement disorders were tested by a special neurological examination. Also, cerebral edema was assessed by determining the brain water content. The results showed that pre-ischemic exercise significantly reduced brain edema (Pedema and movement disorders. Thus, it could be considered as a useful strategy for prevention of ischemic injuries, especially in people at risk.

  20. [Stereotypic movements].

    Science.gov (United States)

    Fernández-Alvarez, E

    2003-02-01

    Stereotypic movements are repetitive patterns of movement with certain peculiar features that make them especially interesting. Their physiopathology and their relationship with the neurobehavioural disorders they are frequently associated with are unknown. In this paper our aim is to offer a simple analysis of their dominant characteristics, their differentiation from other processes and a hypothesis of the properties of stereotypic movements, which could all set the foundations for research work into their physiopathology.

  1. The eye of the beholder : Inter-rater agreement among experts on psychogenic jerky movement disorders

    NARCIS (Netherlands)

    van der Salm, Sandra M A; de Haan, Rob J; Cath, Daniëlle C; van Rootselaar, Anne-Fleur; Tijssen, Marina A J

    Objective The current criteria for conversion disorder in the Diagnostic and Statistical Manual of Mental Disorders rely on the assumption that neurological disorders can be distinguished from conversion disorders through clinical assessment. This study aims to assess inter-rater agreement among

  2. Perceived hole size, performance, and body movement during putting in children with and without probable developmental coordination disorder.

    Science.gov (United States)

    Chen, Fu-Chen; Wu, Sheng-Kuang

    2013-10-01

    The purpose of this study was to examine the relationships between perceived hole size (perception), performance, and body movement (action) in golf putting for children with probable developmental coordination disorder (DCD) and typically developing children (TDC). Forty-eight children (24 probable DCD, 24 TDC) performed putting in easy and hard conditions. Body movement was measured during putting, performance was measured as the distance between ball and hole, and perceived hole size was recorded using a Microsoft Paint drawing exercise 1 m away from the hole. The present results revealed that perceived hole size was positively related to putting performance, body movement was negatively associated with putting performance, and that there were negative correlations between body movement and perceived hole size. While children with probable DCD tended to perceive the hole as smaller, perform worse, and show more body movement, TDC exhibited the opposite. These findings help characterize the relationships between perception, performance, and action in children with probable DCD and TDC during golf putting.

  3. Potential of eye movement desensitization and reprocessing therapy in the treatment of post-traumatic stress disorder

    Directory of Open Access Journals (Sweden)

    McGuire TM

    2014-09-01

    Full Text Available Tracy M McGuire, Christopher W Lee, Peter D Drummond School of Psychology, Murdoch University, Perth, WA, Australia Abstract: Post-traumatic stress disorder (PTSD continues to attract both empirical and clinical interest due to its complex symptom profile and the underlying processes involved. Recently, research attention has been focused on the types of memory processes involved in PTSD and hypothesized neurobiological processes. Complicating this exploration, and the treatment of PTSD, are underlying comorbid disorders, such as depression, anxiety, and substance use disorders. Treatment of PTSD has undergone further reviews with the introduction of eye movement desensitization and reprocessing (EMDR. EMDR has been empirically demonstrated to be as efficacious as other specific PTSD treatments, such as trauma-focused cognitive behavioral therapy. There is emerging evidence that there are different processes underlying these two types of trauma treatment and some evidence that EMDR might have an efficiency advantage. Current research and understanding regarding the processes of EMDR and the future direction of EMDR is presented. Keywords: post-traumatic stress disorder, eye movement desensitization, neurobiological, symptoms, treatment, comorbid

  4. Potential of eye movement desensitization and reprocessing therapy in the treatment of post-traumatic stress disorder.

    Science.gov (United States)

    McGuire, Tracy M; Lee, Christopher W; Drummond, Peter D

    2014-01-01

    Post-traumatic stress disorder (PTSD) continues to attract both empirical and clinical interest due to its complex symptom profile and the underlying processes involved. Recently, research attention has been focused on the types of memory processes involved in PTSD and hypothesized neurobiological processes. Complicating this exploration, and the treatment of PTSD, are underlying comorbid disorders, such as depression, anxiety, and substance use disorders. Treatment of PTSD has undergone further reviews with the introduction of eye movement desensitization and reprocessing (EMDR). EMDR has been empirically demonstrated to be as efficacious as other specific PTSD treatments, such as trauma-focused cognitive behavioral therapy. There is emerging evidence that there are different processes underlying these two types of trauma treatment and some evidence that EMDR might have an efficiency advantage. Current research and understanding regarding the processes of EMDR and the future direction of EMDR is presented.

  5. [Deep brain recording and length of surgery in stereotactic and functional neurosurgery for movement disorders].

    Science.gov (United States)

    Teijeiro, Juan; Macías, Raúl J; Maragoto, Carlos; García, Iván; Alvarez, Mario; Quintanal, Nelson E

    2014-01-01

    Our objectives were to study the length of multi-unit recordings (MURs) of brain activity in 20 years of movement disorder neurosurgeries and to determine the number of times in which it was necessary for the teams using single-unit recording (SUR) to explore all the electrode tracks in the simultaneously recorded sites (SRS). This was a retrospective descriptive statistical analysis of MUR length on 4,296 tracks in 952 surgeries. The exclusion criteria were: tracks with fewer than 5 recorded signals, tracks that had a signal length different from the habitual 2s, or there being unusual situations not related to the MUR, as well as the first 20 surgeries of each surgical target. This yielded a total of 3,448 tracks in 805 surgeries. We also determined the number of the total 952 surgeries in which all the tracks in the SURs of the SRS were explored. The mean and its confidence interval (P=.05) of time per MUR track were 5.49±0.16min in subthalamic nucleus surgery, 8.82±0.24min in the medial or internal globus pallidus) and 18.51±1.31min in the ventral intermediate nucleus of the thalamus. For the total sum of tracks per surgery, in 75% of cases the total time was less than 39min in subthalamic nucleus, almost 42min in the medial or internal globus pallidus and less than 1h and 17min in ventral intermediate nucleus of the thalamus. All the tracks in the SUR SRS were explored in only 4.2% of the surgeries. The impact of MUR on surgical time is acceptable for this guide in objective localization for surgical targets, without having to use several simultaneous electrodes (not all indispensable in most of the cases). Consequently, there is less risk for the patient. Copyright © 2013 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

  6. Olfaction and color vision identify impending neurodegeneration in rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Postuma, Ronald B; Gagnon, Jean-François; Vendette, Mélanie; Desjardins, Catherine; Montplaisir, Jacques Y

    2011-05-01

    For development of neuroprotective therapy, neurodegenerative disease must be identified as early as possible. However, current means of identifying "preclinical" neurodegeneration are limited. Patients with idiopathic rapid eye movement (REM) sleep behavior disorder (RBD) are at >50% risk of synuclein-mediated neurodegenerative disease--this provides a unique opportunity to directly observe preclinical synucleinopathy and to test potential markers of preclinical disease. Patients with RBD without neurodegenerative disease were enrolled in a prospective cohort starting in 2004. Olfaction and color vision were tested at baseline, then annually for 5 years. Test results were compared between patients who developed neurodegenerative disease and those who remained disease-free. Out of 64 patients, 62 (97%) participated in annual follow-up. During follow-up, 21 developed disease, and 41 remained disease-free. Out of 21, 16 developed a combination of parkinsonism and dementia, 4 developed isolated parkinsonism (all with tremor), and 1 developed isolated dementia. Compared to those remaining disease-free, patients destined to develop disease had worse baseline olfaction (University of Pennsylvania Smell Identification Test [UPSIT] = 58.3 ± 27.0% age/sex-adjusted normal vs 80.2 ± 26.3%; p = 0.003) and color vision (Farnsworth-Munsell 100-Hue color test [FM-100] errors 153.0 ± 82.2% normal vs 120.2 ± 26.5%; p = 0.022). Kaplan-Meier 5-year-disease-free survival in those with normal olfaction was 86.0%, vs 35.4% with impaired olfaction (p = 0.029). Disease-free survival with normal color vision was 70.3%, vs 26.0% with impaired vision (p = 0.009). Both olfaction and color vision were reduced as much as 5 years before disease diagnosis, with only slight decline in preclinical stages. Olfaction and color vision identify early-stage synuclein-mediated neurodegenerative diseases. In most cases, abnormalities are measurable at least 5 years before disease onset, and progress

  7. A case of atypical adult-onset tic disorder.

    Science.gov (United States)

    Colosimo, Carlo

    2015-04-01

    The differential diagnosis of adult tic disorder is complex, and several common and uncommon causes have to be taken into consideration. A 30-year-old man came to our movement disorders clinic with multiple tics which had begun insidiously about 10 years earlier. No family history was reported, but his 65-year-old otherwise healthy father also had very subtle involuntary movements. A diagnosis of atypical Gilles de la Tourette syndrome was made. However, the neurological and psychiatric symptoms of the patient rapidly progressed over the following 2 years, resulting in increasingly severe involuntary movements and profound mood disorder. Further diagnostic tests were performed, and a genetic screening for Huntington disease revealed 45 repeats of the CAG nucleotide in the IT-15 gene. This case underlines the marked phenotypic variability of Huntington disease at presentation, including the presence of involuntary movements different from chorea and possibility of an apparently sporadic disorder.

  8. No cases of PANDAS on follow-up of patients of patients referred to a pediatric movement disorders clinic

    Directory of Open Access Journals (Sweden)

    Sarah eKilbertus

    2014-09-01

    Full Text Available Introduction: Pediatric autoimmune disorders associated with streptococcal infection (PANDAS remains a controversial diagnosis and it is unclear how frequently it is encountered in clinical practice. Our study aimed to determine how many children with acute onset tics and/or OCD met criteria for PANDAS.Materials and Methods: A retrospective review was performed on 39 children who presented to a movement disorders clinic with acute onset tics or OCD from 2005-2012.Results: Out of 284 patients seen over the course of 7 years, only 39 had acute onset tics and/or OCD symptoms. None of the 39 children who presented to us acutely met full criteria for PANDAS. 38% had no association between their symptoms and a group A beta-hemolytic streptococcal infection, while 54% had prior inconclusive laboratory testing done and no prospective exacerbations during the course of the study. Only 8% of patients prospectively had acute exacerbations, however prospective testing for GAHBS in these patients was negative. Discussion: Our results support the notion that PANDAS, if it exists, is an exceedingly rare diagnosis encountered in a pediatric movement disorder clinic. While none of our patients met criteria for PANDAS, two with acute onset OCD would have met criteria for pediatric acute-onset neuropsychiatric syndrome (PANS indicating that PANS may be a more appropriate diagnosis.

  9. A Comparison of Dual Attention, Eye Movements, and Exposure Only during Eye Movement Desensitization and Reprocessing for Posttraumatic Stress Disorder: Results from a Randomized Clinical Trial.

    Science.gov (United States)

    Sack, Martin; Zehl, Stefanie; Otti, Alexander; Lahmann, Claas; Henningsen, Peter; Kruse, Johannes; Stingl, Markus

    2016-01-01

    Currently, there is controversy on the possible benefits of dual-attention tasks during eye movement desensitization and reprocessing (EMDR) for patients with posttraumatic stress disorder (PTSD). A total of 139 consecutive patients (including 85 females) suffering from PTSD were allocated randomly among 3 different treatment conditions: exposure with eyes moving while fixating on the therapist's moving hand (EM), exposure with eyes fixating on the therapist's nonmoving hand (EF), and exposure without explicit visual focus of attention as control condition (EC). Except for the variation in stimulation, treatment strictly followed the standard EMDR manual. Symptom changes from pre- to posttreatment were measured with the Clinician-Administered PTSD Scale (CAPS) by an investigator blinded to treatment allocation. In total, 116 patients completed the treatment, with an average of 4.6 sessions applied. Intention-to-treat analysis revealed a significant improvement in PTSD symptoms with a high overall effect size (Cohen's d = 1.96, 95% CI: 1.67-2.24) and a high remission rate of PTSD diagnosis (79.8%). In comparison to the control condition, EM and EF were associated with significantly larger pre-post symptom decrease (ΔCAPS: EM = 35.8, EF = 40.5, EC = 31.0) and significantly larger effect sizes (EM: d = 2.06, 95% CI: 1.55-2.57, EF: d = 2.58, 95% CI: 2.01-3.11, EC: d = 1.44, 95% CI: 0.97-1.91). No significant differences in symptom decrease and effect size were found between EM and EF. Exposure in combination with an explicit external focus of attention leads to larger PTSD symptom reduction than exposure alone. Eye movements have no advantage compared to visually fixating on a nonmoving hand. © 2016 S. Karger AG, Basel.

  10. Effects of long-term use of clonazepam on nonrapid eye movement sleep patterns in rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Ferri, Raffaele; Zucconi, Marco; Marelli, Sara; Plazzi, Giuseppe; Schenck, Carlos H; Ferini-Strambi, Luigi

    2013-05-01

    We aim to analyze in detail the characteristics of nonrapid eye movement (NREM) sleep in drug-free patients with idiopathic rapid eye movement sleep behavior disorder (iRBD). We compare drug-free iRBD patients to both normal controls and drug-free patients with narcolepsy/RBD and evaluate the changes following the long-term use of bedtime clonazepam. Forty-six participants were recruited: 15 with iRBD (13 men, 2 women; mean age, 65.8±4.39years), 13 with narcolepsy/RBD (10 men, 3 women; mean age, 63.0±6.73years), and 18 normal controls (10 men, 8 women; mean age 69.4±7.72years). Sleep was video polysomnographically recorded and the RBD severity scale (RBDSS) was obtained. Chin electromyography (EMG) amplitude was quantitatively assessed and the atonia index was computed. Additionally, NREM sleep instability was evaluated using an automatic quantitative analysis. Participants with iRBD were re-evaluated after 2.75±1.62years of regular therapy with 0.5 to 1-mg clonazepam at bedtime. Slow transient electroencephalography (EEG) events were increased in iRBD and decreased in narcolepsy/RBD, while fast transient events decreased in iRBD and increased in narcolepsy/RBD. During rapid eye movement (REM) sleep the atonia index was reduced in both iRBD and narcolepsy/RBD groups and during NREM sleep atonia index was increased in iRBD participants, remaining low in narcolepsy/RBD participants. After long-term therapy with clonazepam, wakefulness after sleep onset was decreased together with an increase in both slow-wave sleep (SWS) and sleep stage 2, in which the latter reached statistical significance; sleep stages 1 and 2 instability significantly decreased and the duration of EEG transients also slightly but significantly decreased. Finally, chin tone was not modified by clonazepam. Our study confirms that clonazepam modifies some aspects of NREM sleep in iRBD participants with a decrease in its instability. Moreover, we also show that a complex modification of sleep

  11. [The use of axamon in the complex rehabilitation of patients with movement disorders in the pathology of lumbar spine].

    Science.gov (United States)

    Boĭko, A N; Batysheva, T T; Zaĭtsev, K A; Kostenko, E V; Klumov, L V; Matvievskaia, O V; Ryl'skiĭ, A V

    2008-01-01

    The authors review the use of axamon in the complex rehabilitation of neurological patients with movement disorders in the pathology of lumbar spine. Axamon (ipidacrine) stimulates neuromuscular transmission and excitement conduction via nerves and smooth muscles due to the blockade of potassium channels of the excited membrane and cholinesterase inhibition. Authors studied the efficacy of complex therapy of dorsopathy of lumbar spine in 90 patients using axamon, movalis, pantogamum in different combination and manual methodics. Patient's status has been measured clinically and with several scales. The results obtained allow to conclude that the combination of axamon and pantogamum exerts the best theraupetic effect without any side symptoms.

  12. Dopaminergic dysfunction and psychiatric symptoms in movement disorders: a {sup 123}I-FP-CIT SPECT study

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    Di Giuda, Daniela; Cocciolillo, Fabrizio; Bruno, Isabella; Giordano, Alessandro [Universita Cattolica del Sacro Cuore, Istituto di Medicina Nucleare, Rome (Italy); Camardese, Giovanni; Pucci, Lorella; Janiri, Luigi [Universita Cattolica del Sacro Cuore, Istituto di Psichiatria e Psicologia, Rome (Italy); Bentivoglio, Anna Rita; Guidubaldi, Arianna [Universita Cattolica del Sacro Cuore, Istituto di Neurologia, Rome (Italy); Fasano, Alfonso [Universita Cattolica del Sacro Cuore, Istituto di Neurologia, Rome (Italy); AFaR-Associazione Fatebenefratelli per la Ricerca, Rome (Italy)

    2012-12-15

    Psychiatric symptoms frequently occur in patients with movement disorders. They are not a mere reaction to chronic disability, but most likely due to a combination of psychosocial factors and biochemical dysfunction underlying the movement disorder. We assessed dopamine transporter (DAT) availability by means of {sup 123}I-FP-CIT SPECT, and motor and psychiatric features in patients with Parkinson's disease, primary dystonia and essential tremor, exploring the association between SPECT findings and symptom severity. Enrolled in the study were 21 patients with Parkinson's disease, 14 patients with primary dystonia and 15 patients with essential tremor. The severity of depression symptoms was assessed using the Hamilton depression rating scale, anxiety levels using the Hamilton anxiety rating scale and hedonic tone impairment using the Snaith-Hamilton pleasure scale. Specific {sup 123}I-FP-CIT binding in the caudate and putamen was calculated based on ROI analysis. The control group included 17 healthy subjects. As expected, DAT availability was significantly decreased in patients with Parkinson's disease, whereas in essential tremor and dystonia patients it did not differ from that observed in the control group. In Parkinson's disease patients, an inverse correlation between severity of depression symptoms and DAT availability in the left caudate was found (r = -0.63, p = 0.002). In essential tremor patients, levels of anxiety symptoms were inversely correlated with DAT availability in the left caudate (r = -0.69, p = 0.004). In dystonia patients, the severities of both anxiety and depression symptoms were inversely associated with DAT availability in the left putamen (r = -0.71, p = 0.004, and r = -0.75, p = 0.002, respectively). There were no correlations between psychometric scores and {sup 123}I-FP-CIT uptake ratios in healthy subjects. We found association between presynaptic dopaminergic function and affective symptoms in different movement

  13. Wilson's disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment.

    Science.gov (United States)

    Tribl, Gotthard G; Bor-Seng-Shu, Edson; Trindade, Mateus C; Lucato, Leandro T; Teixeira, Manoel J; Barbosa, Egberto R

    2014-09-01

    To describe characteristics of REM sleep behavior disorder in Wilson's disease. Questionnaire-based interviews (patients and relatives), neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Four Wilson's disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. This first description of REM sleep behavior disorder in Wilson's disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson's disease and adds further evidence to the parallelism of Parkinson's disease and Wilson's disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson's disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson's disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome, previewing the possibility of neuroprotective treatment for REM sleep behavior disorder in "pre-clinical" Parkinson's disease.

  14. "We Dance and Find Each Other"1: Effects of Dance/Movement Therapy on Negative Symptoms in Autism Spectrum Disorder.

    Science.gov (United States)

    Hildebrandt, Malin K; Koch, Sabine C; Fuchs, Thomas

    2016-11-10

    The treatment of deficits in social interaction, a shared symptom cluster in persons with schizophrenia (negative symptoms) and autism spectrum disorder (DSM-5 A-criterion), has so far remained widely unsuccessful in common approaches of psychotherapy. The alternative approach of embodiment brings to focus body-oriented intervention methods based on a theoretic framework that explains the disorders on a more basic level than common theory of mind approaches. The randomized controlled trial at hand investigated the effects of a 10-week manualized dance and movement therapy intervention on negative symptoms in participants with autism spectrum disorder. Although the observed effects failed to reach significance at the conventional 0.05 threshold, possibly due to an undersized sample, an encouraging trend towards stronger symptom reduction in the treatment group for overall negative symptoms and for almost all subtypes was found at the 0.10-level. Effect sizes were small but clinically meaningful, and the resulting patterns were in accordance with theoretical expectations. The study at hand contributes to finding an effective treatment approach for autism spectrum disorder in accordance with the notion of embodiment .

  15. Low dimensional temporal organization of spontaneous eye blinks in adults with developmental disabilities and stereotyped movement disorder.

    Science.gov (United States)

    Lee, Mei-Hua; Bodfish, James W; Lewis, Mark H; Newell, Karl M

    2010-01-01

    This study investigated the mean rate and time-dependent sequential organization of spontaneous eye blinks in adults with intellectual and developmental disability (IDD) and individuals from this group who were additionally categorized with stereotypic movement disorder (IDD+SMD). The mean blink rate was lower in the IDD+SMD group than the IDD group and both of these groups had a lower blink rate than a contrast group of healthy adults. In the IDD group the n to n+1 sequential organization over time of the eye-blink durations showed a stronger compensatory organization than the contrast group suggesting decreased complexity/dimensionality of eye-blink behavior. Very low blink rate (and thus insufficient time series data) precluded analysis of time-dependent sequential properties in the IDD+SMD group. These findings support the hypothesis that both IDD and SMD are associated with a reduction in the dimension and adaptability of movement behavior and that this may serve as a risk factor for the expression of abnormal movements.

  16. A simple and inexpensive test-rig for evaluating the performance of motion sensors used in movement disorders research.

    Science.gov (United States)

    Perera, Thushara; Yohanandan, Shivanthan A C; McDermott, Hugh J

    2016-03-01

    Since the advent of electromyogram recording, precise measures of tremor and gait have been used to study movement disorders such as Parkinson's disease. Now, a wide range of accelerometers and other motion-tracking technologies exist to better inform researchers and clinicians, yet such systems are rarely tested for accuracy or suitability before use. Our inexpensive test-rig can produce sinusoidal displacements using a simple cantilever system driven by a subwoofer. Controlled sinusoids were generated using computer software, and the displacement amplitudes of the test-rig were verified with fiducial marker tracking. To illustrate the use of the test-rig, we evaluated an accelerometer and an electromagnetic motion tracker. Accelerometry recordings were accurate to within ±0.09 g of actual peak-to-peak amplitude with a frequency response close to unity gain between 1 and 20 Hz. The electromagnetic sensor underestimated peak displacement by 2.68 mm, which was largely due to a diminishing gain with increasing frequency. Both sensors had low distortion. Overall sensitivity was limited by noise for the accelerometer and quantisation resolution for the electromagnetic sensor. Our simple and low-cost test-rig can be used to bench-test sensors used in movement disorders research. It was able to produce reliable sinusoidal displacements and worked across the 1- to 20-Hz frequency range.

  17. Sleep-related movement disorder symptoms in SHR are attenuated by physical exercise and an angiotensin-converting enzyme inhibitor.

    Science.gov (United States)

    Frank, Miriam Kannebley; de Mello, Marco Tulio; Lee, Kil Sun; Daubian-Nosé, Paulo; Tufik, Sergio; Esteves, Andrea Maculano

    2016-02-01

    The relationship between hypertension and sleep-related movement disorders has been hypothesized for humans, but the causes and mechanisms have not been elucidated. We investigated whether an alteration in blood pressure (BP) induced by physical exercise and/or an angiotensin-converting enzyme inhibitor (enalapril) could affect locomotor activity in spontaneously hypertensive rats, with emphasis on the dopaminergic system. We used SHR and normotensive Wistar rats distributed into 4 groups for each strain: control, physical exercise, enalapril and physical exercise+enalapril. Physical exercise was performed on a treadmill, and enalapril was administered by gavage, both for 8weeks. During this period, locomotor activity was evaluated in an open field test, and BP was evaluated by tail plethysmography. Dopaminergic receptors, dopamine transporter and tyrosine hydroxylase levels at the striatum were evaluated by Western blotting. The control group of spontaneously hypertensive rats showed higher BP, increased activity in the open field test and lower levels of D2 receptors and tyrosine hydroxylase compared with all other groups throughout the experimental period. In general, physical exercise and enalapril attenuated these alterations. This study suggested the existence of comorbidity between hypertension and sleep-related movement disorders in spontaneously hypertensive rats. Physical exercise and enalapril conferred protection for both hypertension and the observed behavioral changes. In addition, these treatments led to changes in dopaminergic signaling in the striatal region (i.e., D2 receptor, TH and DAT). Copyright © 2015 Elsevier Inc. All rights reserved.

  18. ADAPTIVE CAPABILITIES OF STUDENTS WITH MOVEMENT DISORDERS IN THE CONDITIONS OF REALIZATION OF INCLUSIVE APPROACH IN EDUCATION

    Directory of Open Access Journals (Sweden)

    Galina Yur’evna Kolesnikova

    2017-06-01

    Full Text Available Purpose. In the article, the problem of the need for comprehensive study and consideration of the specificity of the adaptive capabilities of students with HIA (on the example of movement disorders of the congenital and acquired genesis when implementing an inclusive approach in higher vocational education is actualized. Research subject. Specific features of university students with disabilities adaptive capacity. Methodology. Theoretical analysis of literature, system approach, experimental method. Results. The article describes the procedure for studying the adaptive capabilities of students with disabilities and the standard of health, and presents the characteristics of groups. The formulated characteristics qualitatively reflect the most striking manifestations of the adaptive abilities of young people with impairment of movement disorders of various geneses. Conclusions are made about the level of development of the adaptive capabilities of the respondents who took part in the study, and the directions of the activities of specialists engaged in psychological and pedagogical support of students’ adaptation in the university are defined. Scope: the system of higher professional education, the service of psychological and pedagogical support of adaptation processes for students with disabilities in the university.

  19. Sporadic diffuse segmental interstitial cell of Cajal hyperplasia harbouring two gastric gastrointestinal stromal tumours (GIST mimicking hereditary GIST syndromes

    Directory of Open Access Journals (Sweden)

    Mafalda Costa Neves

    2015-01-01

    Conclusion: We describe a diffuse form of sporadic ICC hyperplasia harbouring multifocal GISTs, mimicking diffuse ICC hyperplasia in hereditary GIST syndromes. Detection of somatic c-KIT exon 11 mutation ruled out a hereditary disorder.

  20. Can physical exercise have a protective effect in an animal model of sleep-related movement disorder?

    Science.gov (United States)

    Esteves, Andrea M; Lopes, Cleide; Frank, Miriam K; Arida, Ricardo M; Frussa-Filho, Roberto; Tufik, Sergio; de Mello, Marco Túlio

    2016-05-15

    The purpose of the present study was to determine whether physical exercise (PE) has a protective effect in an experimental animal model of sleep-related movement disorder (A11 dopaminergic nuclei lesions with 6-OHDA). Rats were divided into four groups (Control PE-CTRL/PE, SHAM/PE, A11 lesion/NPE, A11 lesion/PE). Two experiments were performed: (1) the rats underwent PE before (2 weeks) and after (4 weeks) the A11 lesion; and (2) the rats underwent PE only after (4 weeks) the A11 lesion. Electrode insertion surgery was performed and sleep analyses were conducted over a period of 24h (baseline and after PE) and analyzed in 6 blocks of 4h. The results demonstrated that the A11 lesion produced an increased percentage of wakefulness in the final block of the dark period (3-7am) and a significant enhancement of the number of limb movements (LM) throughout the day. Four weeks of PE was important for reducing the number of LMs in the A11 lesion group in the rats that performed PE before and after the A11 lesion. However, in the analysis of the protective effect of PE on LM, the results showed that the number of LMs was lower at baseline in the group that had performed 2 weeks of PE prior to the A11 lesion than in the group that had not previously performed PE. In conclusion, these findings consistently demonstrate that non-pharmacological manipulations had a beneficial effect on the symptoms of sleep-related movement disorder. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. Radiation-induced camptocormia and dropped head syndrome. Review and case report of radiation-induced movement disorders

    Energy Technology Data Exchange (ETDEWEB)

    Seidel, Clemens; Kuhnt, Thomas; Kortmann, Rolf-Dieter; Hering, Kathrin [Leipzig University, Department of Radiotherapy and Radiation Oncology, Leipzig (Germany)

    2015-10-15

    In recent years, camptocormia and dropped head syndrome (DHS) have gained attention as particular forms of movement disorders. Camptocormia presents with involuntary forward flexion of the thoracolumbar spine that typically increases during walking or standing and may severely impede walking ability. DHS is characterized by weakness of the neck extensors and a consecutive inability to extend the neck; in severe cases the head is fixed in a ''chin to chest position.'' Many diseases may underlie these conditions, and there have been some reports about radiation-induced camptocormia and DHS. A PubMed search with the keywords ''camptocormia,'' ''dropped head syndrome,'' ''radiation-induced myopathy,'' ''radiation-induced neuropathy,'' and ''radiation-induced movement disorder'' was carried out to better characterize radiation-induced movement disorders and the radiation techniques involved. In addition, the case of a patient developing camptocormia 23 years after radiation therapy of a non-Hodgkin's lymphoma of the abdomen is described. In total, nine case series of radiation-induced DHS (n = 45 patients) and - including our case - three case reports (n = 3 patients) about radiogenic camptocormia were retrieved. Most cases (40/45 patients) occurred less than 15 years after radiotherapy involving extended fields for Hodgkin's disease. The use of wide radiation fields including many spinal segments with paraspinal muscles may lead to radiation-induced movement disorders. If paraspinal muscles and the thoracolumbar spine are involved, the clinical presentation can be that of camptocormia. DHS may result if there is involvement of the cervical spine. To prevent these disorders, sparing of the spine and paraspinal muscles is desirable. (orig.) [German] In den letzten Jahren haben Bewegungsstoerungen von Wirbelsaeule und paraspinaler Muskulatur in

  2. Is trichotillomania a stereotypic movement disorder? An analysis of body-focused repetitive behaviors in people with hair-pulling.

    Science.gov (United States)

    Stein, Dan J; Flessner, Christopher A; Franklin, Martin; Keuthen, Nancy J; Lochner, Christine; Woods, Douglas W

    2008-01-01

    Stereotypic movement disorder (SMD) is characterized by nonfunctional repetitive movements, is typically diagnosed in people with intellectual disability, and by definition excludes people with trichotillomania (TTM). Nevertheless, hair-pulling may be one of a number of body-focused repetitive behaviors (BFRBs) that are seen in the general population. Comorbidity of symptoms might support the idea that they are indicative of an underlying stereotypic disorder, and we therefore explored their frequency in people with hair-pulling. Participants were recruited with the help of the Trichotillomania Learning Center, the largest advocacy group for people with hair-pulling. Participants completed a self-report survey on the Internet, which included questions about the presence of both hair-pulling and other BFRBs. Measures included the Massachusetts General Hospital Hairpulling Scale (MGH-HS), the Milwaukee Inventory for Subtypes of Trichotillomania-Adult Version (MIST-A), the Depression and Anxiety Stress Scale (DASS), and the Sheehan Disability Scale (SDS). The majority of participants with hair-pulling (70%) report the presence of other BFRBs, most commonly skin-picking and nail-biting. There were particularly strong associations between the total number of BFRBs and increased scores on ratings of focused hair-pulling, depression, anxiety, stress, and functional impairment. Similar results were found in participants who met more rigorous criteria for trichotillomania. This study is limited by its self-report nature, and by the lack of detailed information on the phenomenology of comorbid BFRBs. While further nosological research is needed, the high rates of these behaviors in people with hair-pulling, and their association with increased disability, is consistent with previous clinical observations, and supports the argument that trichotillomania can usefully be conceptualized as a stereotypic disorder. Speculatively, this argument may be especially valid in

  3. Movement disorders in elderly users of risperidone and first generation antipsychotic agents: a Canadian population-based study.

    Directory of Open Access Journals (Sweden)

    Irina Vasilyeva

    Full Text Available Despite concerns over the potential for severe adverse events, antipsychotic medications remain the mainstay of treatment of behaviour disorders and psychosis in elderly patients. Second-generation antipsychotic agents (SGAs; e.g., risperidone, olanzapine, quetiapine have generally shown a better safety profile compared to the first-generation agents (FGAs; e.g., haloperidol and phenothiazines, particularly in terms of a lower potential for involuntary movement disorders. Risperidone, the only SGA with an official indication for the management of inappropriate behaviour in dementia, has emerged as the antipsychotic most commonly prescribed to older patients. Most clinical trials evaluating the risk of movement disorders in elderly patients receiving antipsychotic therapy have been of limited sample size and/or of relatively short duration. A few observational studies have produced inconsistent results.A population-based retrospective cohort study of all residents of the Canadian province of Manitoba aged 65 and over, who were dispensed antipsychotic medications for the first time during the time period from April 1, 2000 to March 31, 2007, was conducted using Manitoba's Department of Health's administrative databases. Cox proportional hazards models were used to determine the risk of extrapyramidal symptoms (EPS in new users of risperidone compared to new users of FGAs.After controlling for potential confounders (demographics, comorbidity and medication use, risperidone use was associated with a lower risk of EPS compared to FGAs at 30, 60, 90 and 180 days (adjusted hazard ratios [HR] 0.38, 95% CI: 0.22-0.67; 0.45, 95% CI: 0.28-0.73; 0.50, 95% CI: 0.33-0.77; 0.65, 95% CI: 0.45-0.94, respectively. At 360 days, the strength of the association weakened with an adjusted HR of 0.75, 95% CI: 0.54-1.05.In a large population of elderly patients the use of risperidone was associated with a lower risk of EPS compared to FGAs.

  4. Movement disorders in elderly users of risperidone and first generation antipsychotic agents: a Canadian population-based study.

    Science.gov (United States)

    Vasilyeva, Irina; Biscontri, Robert G; Enns, Murray W; Metge, Colleen J; Alessi-Severini, Silvia

    2013-01-01

    Despite concerns over the potential for severe adverse events, antipsychotic medications remain the mainstay of treatment of behaviour disorders and psychosis in elderly patients. Second-generation antipsychotic agents (SGAs; e.g., risperidone, olanzapine, quetiapine) have generally shown a better safety profile compared to the first-generation agents (FGAs; e.g., haloperidol and phenothiazines), particularly in terms of a lower potential for involuntary movement disorders. Risperidone, the only SGA with an official indication for the management of inappropriate behaviour in dementia, has emerged as the antipsychotic most commonly prescribed to older patients. Most clinical trials evaluating the risk of movement disorders in elderly patients receiving antipsychotic therapy have been of limited sample size and/or of relatively short duration. A few observational studies have produced inconsistent results. A population-based retrospective cohort study of all residents of the Canadian province of Manitoba aged 65 and over, who were dispensed antipsychotic medications for the first time during the time period from April 1, 2000 to March 31, 2007, was conducted using Manitoba's Department of Health's administrative databases. Cox proportional hazards models were used to determine the risk of extrapyramidal symptoms (EPS) in new users of risperidone compared to new users of FGAs. After controlling for potential confounders (demographics, comorbidity and medication use), risperidone use was associated with a lower risk of EPS compared to FGAs at 30, 60, 90 and 180 days (adjusted hazard ratios [HR] 0.38, 95% CI: 0.22-0.67; 0.45, 95% CI: 0.28-0.73; 0.50, 95% CI: 0.33-0.77; 0.65, 95% CI: 0.45-0.94, respectively). At 360 days, the strength of the association weakened with an adjusted HR of 0.75, 95% CI: 0.54-1.05. In a large population of elderly patients the use of risperidone was associated with a lower risk of EPS compared to FGAs.

  5. Machine learning classification of medication adherence in patients with movement disorders using non-wearable sensors.

    Science.gov (United States)

    Tucker, Conrad S; Behoora, Ishan; Nembhard, Harriet Black; Lewis, Mechelle; Sterling, Nicholas W; Huang, Xuemei

    2015-11-01

    Medication non-adherence is a major concern in the healthcare industry and has led to increases in health risks and medical costs. For many neurological diseases, adherence to medication regimens can be assessed by observing movement patterns. However, physician observations are typically assessed based on visual inspection of movement and are limited to clinical testing procedures. Consequently, medication adherence is difficult to measure when patients are away from the clinical setting. The authors propose a data mining driven methodology that uses low cost, non-wearable multimodal sensors to model and predict patients' adherence to medication protocols, based on variations in their gait. The authors conduct a study involving Parkinson's disease patients that are "on" and "off" their medication in order to determine the statistical validity of the methodology. The data acquired can then be used to quantify patients' adherence while away from the clinic. Accordingly, this data-driven system may allow for early warnings regarding patient safety. Using whole-body movement data readings from the patients, the authors were able to discriminate between PD patients on and off medication, with accuracies greater than 97% for some patients using an individually customized model and accuracies of 78% for a generalized model containing multiple patient gait data. The proposed methodology and study demonstrate the potential and effectiveness of using low cost, non-wearable hardware and data mining models to monitor medication adherence outside of the traditional healthcare facility. These innovations may allow for cost effective, remote monitoring of treatment of neurological diseases. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. Diagnosis abnormalities of limb movement in disorders of the nervous system

    Science.gov (United States)

    Tymchik, Gregory S.; Skytsiouk, Volodymyr I.; Klotchko, Tatiana R.; Bezsmertna, Halyna; Wójcik, Waldemar; Luganskaya, Saule; Orazbekov, Zhassulan; Iskakova, Aigul

    2017-08-01

    The paper deals with important issues of diagnosis early signs of diseases of the nervous system, including Parkinson's disease and other specific diseases. Small quantities of violation trajectory of spatial movement of the extremities of human disease at the primary level as the most appropriate features are studied. In modern medical practice is very actual the control the emergence of diseases of the nervous system, including Parkinson's disease. In work a model limbs with six rotational kinematic pairs for diagnosis of early signs of diseases of the nervous system is considered. subject.

  7. Speech and language adverse effects after thalamotomy and deep brain stimulation in patients with movement disorders: A meta-analysis.

    Science.gov (United States)

    Alomar, Soha; King, Nicolas K K; Tam, Joseph; Bari, Ausaf A; Hamani, Clement; Lozano, Andres M

    2017-01-01

    The thalamus has been a surgical target for the treatment of various movement disorders. Commonly used therapeutic modalities include ablative and nonablative procedures. A major clinical side effect of thalamic surgery is the appearance of speech problems. This review summarizes the data on the development of speech problems after thalamic surgery. A systematic review and meta-analysis was performed using nine databases, including Medline, Web of Science, and Cochrane Library. We also checked for articles by searching citing and cited articles. We retrieved studies between 1960 and September 2014. Of a total of 2,320 patients, 19.8% (confidence interval: 14.8-25.9) had speech difficulty after thalamotomy. Speech difficulty occurred in 15% (confidence interval: 9.8-22.2) of those treated with a unilaterally and 40.6% (confidence interval: 29.5-52.8) of those treated bilaterally. Speech impairment was noticed 2- to 3-fold more commonly after left-sided procedures (40.7% vs. 15.2%). Of the 572 patients that underwent DBS, 19.4% (confidence interval: 13.1-27.8) experienced speech difficulty. Subgroup analysis revealed that this complication occurs in 10.2% (confidence interval: 7.4-13.9) of patients treated unilaterally and 34.6% (confidence interval: 21.6-50.4) treated bilaterally. After thalamotomy, the risk was higher in Parkinson's patients compared to patients with essential tremor: 19.8% versus 4.5% in the unilateral group and 42.5% versus 13.9% in the bilateral group. After DBS, this rate was higher in essential tremor patients. Both lesioning and stimulation thalamic surgery produce adverse effects on speech. Left-sided and bilateral procedures are approximately 3-fold more likely to cause speech difficulty. This effect was higher after thalamotomy compared to DBS. In the thalamotomy group, the risk was higher in Parkinson's patients, whereas in the DBS group it was higher in patients with essential tremor. Understanding the pathophysiology of speech

  8. Differential diagnosis in patients with extrapyramidal movement disorders: 123I-IBZM-SPECT vs. apomorphine-test

    International Nuclear Information System (INIS)

    Hierholzer, J.; Cordes, M.; Schelosky, L.; Sander, B.; Boeck, J.C.; David, I.; Horowski, R.; Poewe, W.

    1993-01-01

    The aim of our study was to compare the striatal dopamine D2-receptor density as measured by 123 I-IBZM-SPECT with the results of the apomorphine-test. 30 patients were studied; 21 with idiopathic Parkinson's disease (IPD), 9 with Parkinson plus syndromes (PPS). Patients with IPD showed a significantly higher striatal IBZM binding as compared to patients with PPS (p=0.006). A good correlation between IBZM binding and outcome of the apomorphine test was found (p=0.006). Low striatal IBZM binding indicates reduced dopamine D2-receptor density. This compromises successful dopaminergic medical therapy and is indicative of non-IPD disease. 123 I-IBZM-SPECT could be diagnostic aid in the work-up of patients with extrapyramidal movement disorders. The response to dopaminergic drug treatment might be precluded by IBZM-SPECT in patients with Parkinsonian syndromes. (orig.) [de

  9. The risk of musculoskeletal disorders due to repetitive movements of upper limbs for workers employed in hazelnut sorting

    Directory of Open Access Journals (Sweden)

    Andrea Colantoni

    2013-09-01

    Full Text Available In the agro-industrial sector there are many activities whose urgent rhythms can cause a considerable exposure to bio-mechanical risk factors. In the hazelnut sorting, the workers are subject to several biomechanical risks, with repetitive movements, and operations that require a remarkable degree of strength. A thorough study of the workers’ exposure to repetitive manual movements has been carried out, with the aim of setting up the necessary measures to reduce the risk factors. The aim of the research is to assess the risk of work-related musculo-skeletal disorders (WMSDs due to repetitive work, for workers employed to hazelnut shells sorting. The research was carried out in an agricultural cooperative in the Viterbo’s area. For risk assessment authors used a method (Occupational Repetitive Actions “OCRA” index according to ISO 11228- 3:2009, Ergonomics - Manual handling - Part 3: Handling of low loads at high frequency which keeps into consideration several risk factors (such as repetitiveness, prehension force, posture. The risk was assessed for 16 female workers (in eight workplaces and in two different shifts through this classification: workers with experience less than 1 year, from 1 to 10 years and more than 10 years. This classification is very important for knowing if the professional experience could be considered a “prevention measure” for the risk reduction. The results show a high risk level for the right and left limb. The factors which more have contributed to reach such risk level are the great number of movements and the lack of recovering time.

  10. Fight or flight? Dream content during sleepwalking/sleep terrors vs. rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Uguccioni, Ginevra; Golmard, Jean-Louis; de Fontréaux, Alix Noël; Leu-Semenescu, Smaranda; Brion, Agnès; Arnulf, Isabelle

    2013-05-01

    Dreams enacted during sleepwalking or sleep terrors (SW/ST) may differ from those enacted during rapid eye movement sleep behavior disorder (RBD). Subjects completed aggression, depression, and anxiety questionnaires. The mentations associated with SW/ST and RBD behaviors were collected over their lifetime and on the morning after video polysomnography (PSG). The reports were analyzed for complexity, length, content, setting, bizarreness, and threat. Ninety-one percent of 32 subjects with SW/ST and 87.5% of 24 subjects with RBD remembered an enacted dream (121 dreams in a lifetime and 41 dreams recalled on the morning). These dreams were more complex and less bizarre, with a higher level of aggression in the RBD than in SW/ST subjects. In contrast, we found low aggression, anxiety, and depression scores during the daytime in both groups. As many as 70% of enacted dreams in SW/ST and 60% in RBD involved a threat, but there were more misfortunes and disasters in the SW/ST dreams and more human and animal aggressions in the RBD dreams. The response to these threats differed, as the sleepwalkers mostly fled from a disaster (and 25% fought back when attacked), while 75% of RBD subjects counterattacked when assaulted. The dreams setting included their bedrooms in 42% SW/ST dreams, though this finding was exceptional in the RBD dreams. Different threat simulations and modes of defense seem to play a role during dream-enacted behaviors (e.g., fleeing a disaster during SW/ST, counterattacking a human or animal assault during RBD), paralleling and exacerbating the differences observed between normal dreaming in nonrapid eye movement (NREM) vs rapid eye movement (REM) sleep. Copyright © 2013 Elsevier B.V. All rights reserved.

  11. Improvement of mood and sleep alterations in posttraumatic stress disorder patients by eye movement desensitization and reprocessing

    Directory of Open Access Journals (Sweden)

    Mara Regina Raboni

    2014-06-01

    Full Text Available Posttraumatic stress disorder (PTSD patients exhibit depressive and anxiety symptoms, in addition to nightmares, which interfere with sleep continuity. Pharmacologic treatment of these sleep problems improves PTSD symptoms, but very few studies have used psychotherapeutic interventions to treat PTSD and examined their effects on sleep quality. Therefore, in the present study, we sought to investigate the effects of Eye Movement Desensitization Reprocessing therapy on indices of mood, anxiety, subjective and objective sleep. The sample was composed of 11 healthy controls and 13 PTSD patients that were victims of assault and/or kidnapping. All participants were assessed before, and one day after, the end of treatment for depressive and anxiety profile, general well-being and subjective sleep by filling out specific questionnaires. In addition, objective sleep patterns were evaluated by polysomnographic recording. Healthy volunteers were submitted to the therapy for three weekly sessions, whereas PTSD patients underwent five sessions, on average. Before treatment, PTSD patients exhibited high levels of anxiety and depression, poor quality of life and poor sleep, assessed both subjectively and objectively; the latter was reflected by increased time of waking after sleep onset. After completion of treatment, patients exhibited improvement in depression and anxiety symptoms, and in quality of life; with indices that were no longer different from control volunteers. Moreover, these patients showed more consolidated sleep, with reduction of time spent awake after sleep onset. In conclusion, Eye Movement Desensitization and Reprocessing was an effective treatment of PTSD patients and improved the associated sleep and psychological symptoms.

  12. Improvement of mood and sleep alterations in posttraumatic stress disorder patients by eye movement desensitization and reprocessing.

    Science.gov (United States)

    Raboni, Mara R; Alonso, Fabiana F D; Tufik, Sergio; Suchecki, Deborah

    2014-01-01

    Posttraumatic stress disorder (PTSD) patients exhibit depressive and anxiety symptoms, in addition to nightmares, which interfere with sleep continuity. Pharmacologic treatment of these sleep problems improves PTSD symptoms, but very few studies have used psychotherapeutic interventions to treat PTSD and examined their effects on sleep quality. Therefore, in the present study, we sought to investigate the effects of Eye Movement Desensitization Reprocessing therapy on indices of mood, anxiety, subjective, and objective sleep. The sample was composed of 11 healthy controls and 13 PTSD patients that were victims of assault and/or kidnapping. All participants were assessed before, and 1 day after, the end of treatment for depressive and anxiety profile, general well-being and subjective sleep by filling out specific questionnaires. In addition, objective sleep patterns were evaluated by polysomnographic recording. Healthy volunteers were submitted to the therapy for three weekly sessions, whereas PTSD patients underwent five sessions, on average. Before treatment, PTSD patients exhibited high levels of anxiety and depression, poor quality of life and poor sleep, assessed both subjectively and objectively; the latter was reflected by increased time of waking after sleep onset. After completion of treatment, patients exhibited improvement in depression and anxiety symptoms, and in quality of life; with indices that were no longer different from control volunteers. Moreover, these patients showed more consolidated sleep, with reduction of time spent awake after sleep onset. In conclusion, Eye Movement Desensitization and Reprocessing was an effective treatment of PTSD patients and improved the associated sleep and psychological symptoms.

  13. Reduced sympathetic activity in idiopathic rapid-eye-movement sleep behavior disorder and Parkinson's disease

    DEFF Research Database (Denmark)

    Sorensen, Gertrud Laura; Mehlsen, Jesper; Jennum, Poul

    2013-01-01

    More than 50% of patients with idiopathic REM sleep behavior disorder (iRBD) will develop Parkinson's disease or Lewy body dementia. In a previous study, we found attenuated heart rate responses in iRBD and Parkinson's disease patients during sleep. The current study aimed to evaluate heart rate...... variability further in order to identify possible changes in these components during wakefulness and sleep in patients with iRBD and Parkinson's disease....

  14. Efficacy of Eye Movement Desensitization and Reprocessing in Children and Adolescent with Post-traumatic Stress Disorder: A Meta-Analysis of Randomized Controlled Trials

    OpenAIRE

    Ana Moreno-Alcázar; Ana Moreno-Alcázar; Devi Treen; Alicia Valiente-Gómez; Alicia Valiente-Gómez; Alicia Valiente-Gómez; Albert Sio-Eroles; Víctor Pérez; Víctor Pérez; Víctor Pérez; Víctor Pérez; Benedikt L. Amann; Benedikt L. Amann; Benedikt L. Amann; Benedikt L. Amann

    2017-01-01

    Background: Post-traumatic stress disorder (PTSD) can occur in both adults and children/adolescents. Untreated PTSD can lead to negative long-term mental health conditions such as depression, anxiety, low self-concept, disruptive behaviors, and/or substance use disorders. To prevent these adverse effects, treatment of PTSD is essential, especially in young population due to their greater vulnerability. The principal aim of this meta-analysis was to examine the efficacy of eye movement desensi...

  15. Eye movements reveal no immediate "WOW" ("which one's weird") effect in autism spectrum disorder.

    Science.gov (United States)

    Benson, Valerie; Castelhano, Monica S; Au-Yeung, Sheena K; Rayner, Keith

    2012-01-01

    Autism spectrum disorder (ASD) and typically developed (TD) adult participants viewed pairs of scenes for a simple "spot the difference" (STD) and a complex "which one's weird" (WOW) task. There were no group differences in the STD task. In the WOW task, the ASD group took longer to respond manually and to begin fixating the target "weird" region. Additionally, as indexed by the first-fixation duration into the target region, the ASD group failed to "pick up" immediately on what was "weird". The findings are discussed with reference to the complex information processing theory of ASD (Minshew & Goldstein, 1998 ).

  16. Sporadic lymphoplasmacytic cholecystitis: a clinicopathologic entity.

    Science.gov (United States)

    Hammer, Suntrea T G; Appelman, Henry D

    2014-08-01

    To describe a sporadic form of lymphoplasmacytic cholecystitis (LPC), a condition known to occur in patients with chronic biliary tract disease. One year's worth of cholecystectomies was reviewed for sporadic cases of LPC. Histologic, radiologic, and clinical findings were reviewed and compared with noninflamed controls. Sporadic cases were also compared histologically with obstructive LPC cases. Sporadic LPC made up 7% of cholecystectomies, had a male predominance (54.2%), and more often presented with clinical signs of acute inflammation compared with controls. Radiologic findings identified gallstones in 71.4% of patients. The second most common finding was unexplained extrahepatic biliary dilation. There were no unique histologic findings to separate sporadic cases from those associated with pancreatobiliary disease. While obstructive LPC is traditionally described as acalculous, chronic cholecystitis, we show this inflammatory pattern occurs both in the presence of gallstones and outside of previously described disease categories. In addition, LPC occurs in a unique patient demographic (older men), often presenting similarly to acute cholecystitis. Copyright© by the American Society for Clinical Pathology.

  17. Self-esteem treatment in anxiety : A randomized controlled crossover trial of Eye Movement Desensitization and Reprocessing (EMDR) versus Competitive Memory Training (COMET) in patients with anxiety disorders

    NARCIS (Netherlands)

    Staring, A B P; van den Berg, D P G; Cath, D C; Schoorl, M; Engelhard, I M; Korrelboom, C W

    BACKGROUND AND PURPOSE: Little is known about treating low self-esteem in anxiety disorders. This study evaluated two treatments targeting different mechanisms: (1) Eye Movement Desensitization and Reprocessing (EMDR), which aims to desensitize negative memory representations that are proposed to

  18. Self-esteem treatment in anxiety : A randomized controlled crossover trial of Eye Movement Desensitization and Reprocessing (EMDR) versus Competitive Memory Training (COMET) in patients with anxiety disorders

    NARCIS (Netherlands)

    Staring, A. B. P.; van den Berg, D. P. G.; Cath, D. C.; Schoorl, M.; Engelhard, I. M.; Korrelboom, C. W.

    2016-01-01

    Background and purpose Little is known about treating low self-esteem in anxiety disorders. This study evaluated two treatments targeting different mechanisms: (1) Eye Movement Desensitization and Reprocessing (EMDR), which aims to desensitize negative memory representations that are proposed to

  19. Eye Movement Desensitisation and Reprocessing Therapy for Posttraumatic Stress Disorder in a Child and an Adolescent with Mild to Borderline Intellectual Disability: A Multiple Baseline across Subjects Study

    Science.gov (United States)

    Mevissen, Liesbeth; Didden, Robert; Korzilius, Hubert; de Jongh, Ad

    2017-01-01

    Background: This study explored the effectiveness of eye movement desensitisation and reprocessing (EMDR) therapy for post-traumatic stress disorder (PTSD) in persons with mild to borderline intellectual disability (MBID) using a multiple baseline across subjects design. Methods: One child and one adolescent with MBID, who met diagnostic criteria…

  20. Eye movement desensitisation and reprocessing therapy for posttraumatic stress disorder in a child and an adolescent with mild to borderline intellectual disability : A multiple baseline across subjects study

    NARCIS (Netherlands)

    Mevissen, L.; Didden, R.; Korzilius, H.; de Jongh, A.

    2017-01-01

    Background: This study explored the effectiveness of eye movement desensitisation and reprocessing (EMDR) therapy for post-traumatic stress disorder (PTSD) in persons with mild to borderline intellectual disability (MBID) using a multiple baseline across subjects design. Methods: One child and one

  1. Aggression Regulation in Day Treatment of Eating Disorders : Two-Centre RCT of a Brief Body and Movement-Oriented Intervention

    NARCIS (Netherlands)

    Boerhout, Cees; Swart, Marte; Voskamp, Marjon; Troquete, Nadine A. C.; van Busschbach, Jooske T.; Hoek, Hans W.

    ObjectiveThe objective is to evaluate a body and movement-oriented intervention on aggression regulation, specifically aimed towards reducing anger internalization in patients with an eating disorder. MethodPatients were randomized to treatment-as-usual (TAU) plus the intervention (n=38) or to TAU

  2. Rapid eye movement sleep behavior disorder: a window on the emotional world of Parkinson disease.

    Science.gov (United States)

    Mariotti, Paolo; Quaranta, Davide; Di Giacopo, Raffaella; Bentivoglio, Anna Rita; Mazza, Marianna; Martini, Annalisa; Canestri, Jorge; Della Marca, Giacomo

    2015-02-01

    REM sleep behavior disorder (RBD) is a parasomnia characterized by motor activity during sleep with dream mentation. Aggressiveness has been considered a peculiar feature of dreams associated with RBD, despite normal score in aggressiveness scales during wakefulness. We aimed to measure daytime aggressiveness and analyze dream contents in a population of patients with Parkinson disease (PD) with and without RBD. This is a single-center prospective observational study; it concerns the description of the clinical features of a medical disorder in a case series. The study was performed in the Department of Neurosciences of the Catholic University in Rome, Italy. Three groups of subjects were enrolled: patients with PD plus RBD, patients with PD without RBD, and healthy controls. The diagnosis of RBD was determined clinically and confirmed by means of overnight, laboratory-based video-polysomnography. For the evaluation of diurnal aggressiveness, the Buss-Perry Aggression Questionnaire (BPAQ) was used. The content of dreams was evaluated by means of the methods of Hall and Van De Castle. Patients with PD without RBD displayed higher levels of anger, and verbal and physical aggressiveness than patients with PD and RBD and controls. Patients with PD and RBD and controls did not differ in hostility. It can be hypothesized that a noradrenergic impairment at the level of the locus coeruleus could, at the same time, explain the presence of RBD, as well as the reduction of diurnal aggressiveness. This finding also suggests a role for REM sleep in regulating homeostasis of emotional brain function. © 2015 Associated Professional Sleep Societies, LLC.

  3. Rapid eye movement sleep behavior disorder: devising controlled active treatment studies for symptomatic and neuroprotective therapy--a consensus statement from the International Rapid Eye Movement Sleep Behavior Disorder Study Group.

    Science.gov (United States)

    Schenck, C H; Montplaisir, J Y; Frauscher, B; Hogl, B; Gagnon, J-F; Postuma, R; Sonka, K; Jennum, P; Partinen, M; Arnulf, I; Cochen de Cock, V; Dauvilliers, Y; Luppi, P-H; Heidbreder, A; Mayer, G; Sixel-Döring, F; Trenkwalder, C; Unger, M; Young, P; Wing, Y K; Ferini-Strambi, L; Ferri, R; Plazzi, G; Zucconi, M; Inoue, Y; Iranzo, A; Santamaria, J; Bassetti, C; Möller, J C; Boeve, B F; Lai, Y Y; Pavlova, M; Saper, C; Schmidt, P; Siegel, J M; Singer, C; St Louis, E; Videnovic, A; Oertel, W

    2013-08-01

    We aimed to provide a consensus statement by the International Rapid Eye Movement Sleep Behavior Disorder Study Group (IRBD-SG) on devising controlled active treatment studies in rapid eye movement sleep behavior disorder (RBD) and devising studies of neuroprotection against Parkinson disease (PD) and related neurodegeneration in RBD. The consensus statement was generated during the fourth IRBD-SG symposium in Marburg, Germany in 2011. The IRBD-SG identified essential methodologic components for a randomized trial in RBD, including potential screening and diagnostic criteria, inclusion and exclusion criteria, primary and secondary outcomes for symptomatic therapy trials (particularly for melatonin and clonazepam), and potential primary and secondary outcomes for eventual trials with disease-modifying and neuroprotective agents. The latter trials are considered urgent, given the high conversion rate from idiopathic RBD (iRBD) to Parkinsonian disorders (i.e., PD, dementia with Lewy bodies [DLB], multiple system atrophy [MSA]). Six inclusion criteria were identified for symptomatic therapy and neuroprotective trials: (1) diagnosis of RBD needs to satisfy the International Classification of Sleep Disorders, second edition, (ICSD-2) criteria; (2) minimum frequency of RBD episodes should preferably be ⩾2 times weekly to allow for assessment of change; (3) if the PD-RBD target population is included, it should be in the early stages of PD defined as Hoehn and Yahr stages 1-3 in Off (untreated); (4) iRBD patients with soft neurologic dysfunction and with operational criteria established by the consensus of study investigators; (5) patients with mild cognitive impairment (MCI); and (6) optimally treated comorbid OSA. Twenty-four exclusion criteria were identified. The primary outcome measure for RBD treatment trials was determined to be the Clinical Global Impression (CGI) efficacy index, consisting of a four-point scale with a four-point side-effect scale. Assessment of

  4. p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder

    Directory of Open Access Journals (Sweden)

    Silke Appel-Cresswell

    2018-01-01

    Full Text Available Mutations in presenilin 1 (PSEN1 are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, seizures, hallucinations and behavioral changes. Whole-exome sequencing (WES was performed on the affected proband after many assessments over several years proved diagnostically inconclusive. The results were analyzed using the AnnEx “Annotated Exomes” browser (http://annex.can.ubc.ca, a web-based platform that facilitates WES variant annotation and interpretation. High-throughput sequencing can be especially informative for complex neurological disorders, and WES warrants consideration as a first-line clinical test. Data analyses facilitated by web-based bioinformatics tools have great potential for novel insight, although confirmatory, diagnostically accredited Sanger sequencing is recommended prior to reporting.

  5. Investigating eye movement patterns, language, and social ability in children with autism spectrum disorder.

    Science.gov (United States)

    Stagg, Steven D; Linnell, Karina J; Heaton, Pamela

    2014-05-01

    Although all intellectually high-functioning children with autism spectrum disorder (ASD) display core social and communication deficits, some develop language within a normative timescale and others experience significant delays and subsequent language impairment. Early attention to social stimuli plays an important role in the emergence of language, and reduced attention to faces has been documented in infants later diagnosed with ASD. We investigated the extent to which patterns of attention to social stimuli would differentiate early and late language onset groups. Children with ASD (mean age = 10 years) differing on language onset timing (late/normal) and a typically developing comparison group completed a task in which visual attention to interacting and noninteracting human figures was mapped using eye tracking. Correlations on visual attention data and results from tests measuring current social and language ability were conducted. Patterns of visual attention did not distinguish typically developing children and ASD children with normal language onset. Children with ASD and late language onset showed significantly reduced attention to salient social stimuli. Associations between current language ability and social attention were observed. Delay in language onset is associated with current language skills as well as with specific eye-tracking patterns.

  6. Investigation of the Association Between Motor Stereotypy Behavior With Fundamental Movement Skills, Adaptive Functioning, and Autistic Spectrum Disorder Symptomology in Children With Intellectual Disabilities.

    Science.gov (United States)

    Powell, Joanne L; Pringle, Lydia; Greig, Matt

    2017-02-01

    Motor stereotypy behaviors are patterned, coordinated, repetitive behaviors that are particularly evident in those with an autistic spectrum disorder and intellectual disabilities. The extent to which motor stereotypy behavior severity is associated with motor skills and maladaptive behavior, measures of adaptive functioning, along with fundamental movement skills and degree of autistic spectrum disorder symptomology is assessed in this preliminary report. Twelve participants, aged 7 to 16 years, with a reported motor stereotypy behavior and either mild or severe intellectual disability comprising developmental or global delay took part in the study. Spearman rho correlational analysis showed that severity of motor stereotypy behavior was significantly positively correlated with autistic spectrum disorder symptomology ( P = .008) and maladaptive behavior ( P = .008) but not fundamental movement skills ( P > .05). An increase in fundamental movement skills score was associated with a decrease in autistic spectrum disorder symptomology ( P = .01) and an increase in motor skills ( P = .002). This study provides evidence showing a significant relationship between motor stereotypy behavior severity with degree of autistic spectrum disorder symptomology and maladaptive behavior.

  7. The Clinical Phenotype of Idiopathic Rapid Eye Movement Sleep Behavior Disorder at Presentation: A Study in 203 Consecutive Patients

    Science.gov (United States)

    Fernández-Arcos, Ana; Iranzo, Alex; Serradell, Mónica; Gaig, Carles; Santamaria, Joan

    2016-01-01

    Objective: To describe the clinical phenotype of idiopathic rapid eye movement (REM) sleep behavior disorder (IRBD) at presentation in a sleep center. Methods: Clinical history review of 203 consecutive patients with IRBD identified between 1990 and 2014. IRBD was diagnosed by clinical history plus video-polysomnographic demonstration of REM sleep with increased electromyographic activity linked to abnormal behaviors. Results: Patients were 80% men with median age at IRBD diagnosis of 68 y (range, 50–85 y). In addition to the already known clinical picture of IRBD, other important features were apparent: 44% of the patients were not aware of their dream-enactment behaviors and 70% reported good sleep quality. In most of these cases bed partners were essential to convince patients to seek medical help. In 11% IRBD was elicited only after specific questioning when patients consulted for other reasons. Seven percent did not recall unpleasant dreams. Leaving the bed occurred occasionally in 24% of subjects in whom dementia with Lewy bodies often developed eventually. For the correct diagnosis of IRBD, video-polysomnography had to be repeated in 16% because of insufficient REM sleep or electromyographic artifacts from coexistent apneas. Some subjects with comorbid obstructive sleep apnea reported partial improvement of RBD symptoms following continuous positive airway pressure therapy. Lack of therapy with clonazepam resulted in an increased risk of sleep related injuries. Synucleinopathy was frequently diagnosed, even in patients with mild severity or uncommon IRBD presentations (e.g., patients who reported sleeping well, onset triggered by a life event, nocturnal ambulation) indicating that the development of a neurodegenerative disease is independent of the clinical presentation of IRBD. Conclusions: We report the largest IRBD cohort observed in a single center to date and highlight frequent features that were not reported or not sufficiently emphasized in previous

  8. Prolonged exposure vs eye movement desensitization and reprocessing vs waiting list for posttraumatic stress disorder in patients with a psychotic disorder: a randomized clinical trial.

    Science.gov (United States)

    van den Berg, David P G; de Bont, Paul A J M; van der Vleugel, Berber M; de Roos, Carlijn; de Jongh, Ad; Van Minnen, Agnes; van der Gaag, Mark

    2015-03-01

    The efficacy of posttraumatic stress disorder (PTSD) treatments in psychosis has not been examined in a randomized clinical trial to our knowledge. Psychosis is an exclusion criterion in most PTSD trials. To examine the efficacy and safety of prolonged exposure (PE) therapy and eye movement desensitization and reprocessing (EMDR) therapy in patients with psychotic disorders and comorbid PTSD. A single-blind randomized clinical trial with 3 arms (N = 155), including PE therapy, EMDR therapy, and waiting list (WL) of 13 outpatient mental health services among patients with a lifetime psychotic disorder and current chronic PTSD. Baseline, posttreatment, and 6-month follow-up assessments were made. Participants were randomized to receive 8 weekly 90-minute sessions of PE (n = 53), EMDR (n = 55), or WL (n = 47). Standard protocols were used, and treatment was not preceded by stabilizing psychotherapeutic interventions. Clinician-rated severity of PTSD symptoms, PTSD diagnosis, and full remission (on the Clinician-Administered PTSD Scale) were primary outcomes. Self-reported PTSD symptoms and posttraumatic cognitions were secondary outcomes. Data were analyzed as intent to treat with linear mixed models and generalized estimating equations. Participants in the PE and EMDR conditions showed a greater reduction of PTSD symptoms than those in the WL condition. Between-group effect sizes were 0.78 (P EMDR. Participants in the PE condition (56.6%; odds ratio [OR], 3.41; P = .006) or the EMDR condition (60.0%; OR, 3.92; P EMDR condition (16.4%; OR, 2.87; P = .10), were more likely to gain full remission than those in the WL condition (6.4%). Treatment effects were maintained at the 6-month follow-up in PE and EMDR. Similar results were obtained regarding secondary outcomes. There were no differences in severe adverse events between conditions (2 in PE, 1 in EMDR, and 4 in WL). The PE therapy and EMDR therapy showed no difference in any of the

  9. Prognostic and symptomatic aspects of rapid eye movement sleep in a mouse model of posttraumatic stress disorder

    Directory of Open Access Journals (Sweden)

    Stephanie A. Polta

    2013-05-01

    Full Text Available Not every individual develops Posttraumatic Stress Disorder (PTSD after the exposure to a potentially traumatic event. Therefore, the identification of pre-existing risk factors and early diagnostic biomarkers is of high medical relevance. However, no objective biomarker has yet progressed into clinical practice. Sleep disturbances represent commonly reported complaints in PTSD patients. In particular, changes in rapid eye movement sleep (REMS properties are frequently observed in PTSD patients. Here, we examined in a mouse model of PTSD whether (1 mice developed REMS alterations after trauma and (2 whether REMS architecture before and/or shortly after trauma predicted the development of PTSD-like symptoms. We monitored sleep-wake behavior via combined EEG/EMG recordings immediately before (24 h pre, immediately after (0-48 h post and two months after exposure to an electric foot shock in male C57BL/6N mice (n=15. PTSD-like symptoms, including hyperarousal, contextual and generalized fear, were assessed one month post-trauma.Shocked mice showed early-onset and sustained elevation of REMS compared to non-shocked controls. In addition, REMS architecture before trauma was correlated with the intensity of acoustic startle responses, but not contextual fear, one month after trauma.Our data suggest REMS as prognostic (pre-trauma and symptomatic (post-trauma marker of PTSD-like symptoms in mice. Translated to the situation in humans, REMS may constitute a viable, objective and non-invasive biomarker in PTSD and other trauma-related psychiatric disorders, which could guide pharmacological interventions in humans at high risk.

  10. Retinal nerve fiber layer thinning: a window into rapid eye movement sleep behavior disorders in Parkinson's disease.

    Science.gov (United States)

    Yang, Zi-Jiao; Wei, Jing; Mao, Cheng-Jie; Zhang, Jin-Ru; Chen, Jing; Ji, Xiao-Yan; Liu, Jun-Yi; Shen, Yun; Xiong, Kang-Ping; Huang, Jun-Ying; Yang, Ya-Ping; Liu, Chun-Feng

    2016-12-01

    Retinal nerve fiber layer (RNFL) thinning occurs in Parkinson's disease (PD) and other neurodegenerative diseases. Idiopathic RBD (iRBD) is a well-established prodromal hallmark of synucleinopathies and occurs secondary to many neurodegenerative diseases, including PD. The aim of this study is to determine whether or not retinal structures are altered with the onset of rapid eye movement (REM) sleep behavior disorders (RBD). In all, a total of 63 patients with PD, 14 patients with idiopathic RBD, and 26 sex- and age-matched healthy controls were enrolled and underwent optical coherence tomography measurements (HD-OCT (Zeiss) ) for the average and every quadrant of RNFL thickness. The REM Sleep Behavior Disorder Screening Questionnaire (RBDSQ) was used to classify PD patients with clinically probable RBD (PD + pRBD) or without probable RBD (PD - pRBD). Patients with iRBD were identified by polysomnography. For patients with RBD (idiopathic or secondary to PD), we found a significant decrease in RNFL thickness compared with groups without RBD (PD - pRBD and healthy controls) (all p < 0.05). Average RNFL thickness in patients with iRBD is significantly thinner than in healthy controls (p < 0.05). In PD, the average RNFL thickness was dramatically thinner in the PD + pRBD group than the PD - pRBD group (p < 0.005). Compared with healthy controls, RNFL thickness was slightly thinner in the drug-naive PD group but not the PD group with drug treatment. Multiple linear regression analysis showed that RBDSQ score was negatively associated with average and inferior RNFL variation in PD (all p < 0.005). The findings show that RNFL was slightly but significantly thinner in idiopathic RBD. In PD, RNFL thickness may vary depending on the presence of RBD.

  11. Cognitive Behavioral Therapy vs. Eye Movement Desensitization and Reprocessing for Treating Panic Disorder: A Randomized Controlled Trial.

    Science.gov (United States)

    Horst, Ferdinand; Den Oudsten, Brenda; Zijlstra, Wobbe; de Jongh, Ad; Lobbestael, Jill; De Vries, Jolanda

    2017-01-01

    Objective: Cognitive Behavioral Therapy (CBT) is an effective intervention for patients with panic disorder (PD). From a theoretical perspective, Eye Movement Desensitization and Reprocessing (EMDR) therapy could also be useful in the treatment of PD because: (1) panic attacks can be experienced as life threatening; (2) panic memories specific to PD resemble traumatic memories as seen in posttraumatic stress disorder (PTSD); and (3) PD often develops following a distressing life event. The primary objective of this Randomized Controlled Trial (RCT), was to compare EMDR therapy with CBT for PD and determine whether EMDR is not worse than CBT in reducing panic symptoms and improving Quality Of Life (QOL). Methods: Two-arm (CBT and EMDR) parallel RCT in patients with PD ( N = 84). Patients were measured at baseline (T1), directly after the last therapy session (T2), and 3 months after ending therapy (T3). Non-inferiority testing (linear mixed model with intention-to-treat analysis) was applied. Patients were randomly assigned to 13 weekly 60-min sessions of CBT ( N = 42) or EMDR therapy ( N = 42). Standard protocols were used. The primary outcome measure was severity of PD at T3, as measured with the Agoraphobic Cognitions Questionnaire (ACQ), the Body Sensations Questionnaire (BSQ), and the Mobility Inventory (MI). The secondary outcome measure was QOL, as measured with the World Health Organization Quality of Life short version (WHOQOL-Bref), at T3. Results: The severity of PD variables ACQ and BSQ showed non-inferiority of EMDR to CBT, while MI was inconclusive (adjusted analyses). Overall QOL and general health, Psychological health, Social relationships, and Environment showed non-inferiority of EMDR to CBT, while Physical health was inconclusive. Conclusion: EMDR therapy proved to be as effective as CBT for treating PD patients. Trial Registration: Dutch Trial Register, Nr. 3134 http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=3134.

  12. Prevalence of rapid eye movement sleep behavior disorder (RBD) in Parkinson's disease: a meta and meta-regression analysis.

    Science.gov (United States)

    Zhang, Xiaona; Sun, Xiaoxuan; Wang, Junhong; Tang, Liou; Xie, Anmu

    2017-01-01

    Rapid eye movement sleep behavior disorder (RBD) is thought to be one of the most frequent preceding symptoms of Parkinson's disease (PD). However, the prevalence of RBD in PD stated in the published studies is still inconsistent. We conducted a meta and meta-regression analysis in this paper to estimate the pooled prevalence. We searched the electronic databases of PubMed, ScienceDirect, EMBASE and EBSCO up to June 2016 for related articles. STATA 12.0 statistics software was used to calculate the available data from each research. The prevalence of RBD in PD patients in each study was combined to a pooled prevalence with a 95 % confidence interval (CI). Subgroup analysis and meta-regression analysis were performed to search for the causes of the heterogeneity. A total of 28 studies with 6869 PD cases were deemed eligible and included in our meta-analysis based on the inclusion and exclusion criteria. The pooled prevalence of RBD in PD was 42.3 % (95 % CI 37.4-47.1 %). In subgroup analysis and meta-regression analysis, we found that the important causes of heterogeneity were the diagnosis criteria of RBD and age of PD patients (P = 0.016, P = 0.019, respectively). The results indicate that nearly half of the PD patients are suffering from RBD. Older age and longer duration are risk factors for RBD in PD. We can use the minimal diagnosis criteria for RBD according to the International Classification of Sleep Disorders to diagnose RBD patients in our daily work if polysomnography is not necessary.

  13. Cognitive Behavioral Therapy vs. Eye Movement Desensitization and Reprocessing for Treating Panic Disorder: A Randomized Controlled Trial

    Directory of Open Access Journals (Sweden)

    Ferdinand Horst

    2017-08-01

    Full Text Available Objective: Cognitive Behavioral Therapy (CBT is an effective intervention for patients with panic disorder (PD. From a theoretical perspective, Eye Movement Desensitization and Reprocessing (EMDR therapy could also be useful in the treatment of PD because: (1 panic attacks can be experienced as life threatening; (2 panic memories specific to PD resemble traumatic memories as seen in posttraumatic stress disorder (PTSD; and (3 PD often develops following a distressing life event. The primary objective of this Randomized Controlled Trial (RCT, was to compare EMDR therapy with CBT for PD and determine whether EMDR is not worse than CBT in reducing panic symptoms and improving Quality Of Life (QOL.Methods: Two-arm (CBT and EMDR parallel RCT in patients with PD (N = 84. Patients were measured at baseline (T1, directly after the last therapy session (T2, and 3 months after ending therapy (T3. Non-inferiority testing (linear mixed model with intention-to-treat analysis was applied. Patients were randomly assigned to 13 weekly 60-min sessions of CBT (N = 42 or EMDR therapy (N = 42. Standard protocols were used. The primary outcome measure was severity of PD at T3, as measured with the Agoraphobic Cognitions Questionnaire (ACQ, the Body Sensations Questionnaire (BSQ, and the Mobility Inventory (MI. The secondary outcome measure was QOL, as measured with the World Health Organization Quality of Life short version (WHOQOL-Bref, at T3.Results: The severity of PD variables ACQ and BSQ showed non-inferiority of EMDR to CBT, while MI was inconclusive (adjusted analyses. Overall QOL and general health, Psychological health, Social relationships, and Environment showed non-inferiority of EMDR to CBT, while Physical health was inconclusive.Conclusion: EMDR therapy proved to be as effective as CBT for treating PD patients.Trial Registration: Dutch Trial Register, Nr. 3134 http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=3134

  14. Cortical restricted diffusion as the predominant MRI finding in sporadic Creutzfeldt-Jakob disease

    Energy Technology Data Exchange (ETDEWEB)

    Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O. (Dept. of Radiology, Univ. of Louisville, Louisville (United States)), e-mail: sdtalb02@gwise.louisville.edu; Plato, Brian M (Dept. of Neurology, Univ. of Louisville, Louisville (United States)); Parker, John (Dept. of Pathology and Laboratory Medicine, Univ. of Louisville, Louisville (United States))

    2011-04-15

    Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder with MR findings predominantly limited to the grey matter of the cortex and the basal ganglia. Sporadic Creutzfeldt-Jakob disease can produce a spectrum of MR imaging findings of the brain, most notably on DWI and FLAIR sequences. Involvement of the basal ganglia and neocortex is the most common finding, but isolated involvement of the cortex can also be seen. We describe the clinical history and MRI findings of three patients with sporadic Creutzfeldt-Jakob disease confirmed by brain biopsy or autopsy and review the literature of imaging manifestations of this disease

  15. Cortical restricted diffusion as the predominant MRI finding in sporadic Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O.; Plato, Brian M; Parker, John

    2011-01-01

    Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder with MR findings predominantly limited to the grey matter of the cortex and the basal ganglia. Sporadic Creutzfeldt-Jakob disease can produce a spectrum of MR imaging findings of the brain, most notably on DWI and FLAIR sequences. Involvement of the basal ganglia and neocortex is the most common finding, but isolated involvement of the cortex can also be seen. We describe the clinical history and MRI findings of three patients with sporadic Creutzfeldt-Jakob disease confirmed by brain biopsy or autopsy and review the literature of imaging manifestations of this disease

  16. Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis.

    Science.gov (United States)

    Statland, Jeffrey M; Barohn, Richard J; McVey, April L; Katz, Jonathan S; Dimachkie, Mazen M

    2015-11-01

    When approaching a patient with suspected motor neuron disease (MND), the pattern of weakness on examination helps distinguish MND from other diseases of peripheral nerves, the neuromuscular junction, or muscle. MND is a clinical diagnosis supported by findings on electrodiagnostic testing. MNDs exist on a spectrum, from a pure lower motor neuron to mixed upper and lower motor neuron to a pure upper motor neuron variant. Amyotrophic lateral sclerosis (ALS) is a progressive mixed upper and lower motor neuron disorder, most commonly sporadic, which is invariably fatal. This article describes a pattern approach to identifying MND and clinical features of sporadic ALS. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Mutations in the RET proto-oncogene in sporadic pheochromocytomas

    Energy Technology Data Exchange (ETDEWEB)

    Thibodeau, S.N.; Lindor, N.M.; Honchel, R. [Mayo Clinic and Foundation, Rochester, MN (United States)] [and others

    1994-09-01

    Mutations in the RET proto-oncogene have recently been demonstrated in kindreds with Multiple Endocrine Neoplasia (MEN) types 2A and 2B. Both of these autosomal dominant disorders are characterized by the development of neoplasia in cell lines of neural crest origin, such as medullary throid carcinomas and pheochromocytomas. Individuals with MEN 2B have, in addition, ganglioneuromas of the lips, tongue and colon, a marfanoid habitus, and corneal nerve thickening. Approximately 90% of patients with MEN 2A have a germline mutation in exons 10 or 11, while 95% of patients with MEN 2B have a T{yields}C transition in codon 918 of exon 16. In this study, pheochromocytomas from 29 individuals who had no clinical evidence of MEN 2A or 2B (sporadic) were examined for the presence of either germline or somatic mutations in exons 10, 11, and 16 of the RET proto-oncogene. Of the 29 tumors examined, 3 (10%) were found to have a mutation in one of the three exons. One tumor had a G{yields}A transition in codon 609 (exon 10), another had a 6 bp deletion encompassing codons 632 & 633 (exon 11), and the final tumor had a T{yields}C transition in codon 918 (exon 16). These mutations were not found in the corresponding normal DNA from these individuals, indicating that the mutation were somatic in origin. Although we cannot exclude the possibility of mutations in other regions of the RET proto-oncogene, our data suggests that: (1) individuals presenting with apparently sporadic pheochromocytomas are not likely to have undiagnosed MEN 2A or 2B; and (2) somatic mutations in the RET proto-oncogene contribute to the process of tumorigenesis in a small percentage of sporadic pheochromocytomas.

  18. Genetic instability in inherited and sporadic leukemias.

    Science.gov (United States)

    Popp, Henning D; Bohlander, Stefan K

    2010-12-01

    Genetic instability due to increased DNA damage and altered DNA repair is of central significance in the initiation and progression of inherited and sporadic human leukemias. Although very rare, some inherited DNA repair insufficiency syndromes (e.g., Fanconi anemia, Bloom's syndrome) have added substantially to our understanding of crucial mechanisms of leukemogenesis in recent years. Conversely, sporadic leukemias account for the main proportion of leukemias and here DNA damaging reactive oxygen species (ROS) play a central role. Although the exact mechanisms of increased ROS production remain largely unknown and no single pathway has been detected thus far, some oncogenic proteins (e.g., the activated tyrosine kinases BCR-ABL1 and FLT3-ITD) seem to play a key role in driving genetic instability by increased ROS generation which influences the disease course (e.g., blast crisis in chronic myeloid leukemia or relapse in FLT3-ITD positive acute myeloid leukemia). Of course other mechanisms, which promote genetic instability in leukemia also exist. A newly emerging mechanism is the genome-wide alteration of epigenetic marks (e.g., hypomethylation of histone H3K79), which promotes chromosomal instability. Taken together genetic instability plays a critical role both in inherited and sporadic leukemias and emerges as a common theme in both inherited and sporadic leukemias. Beyond its theoretical impact, the analysis of genetic instability may lead the way to the development of innovative therapy strategies. © 2010 Wiley-Liss, Inc.

  19. Time structure of leg movement activity during sleep in attention-deficit/hyperactivity disorder and effects of levodopa.

    Science.gov (United States)

    Ferri, Raffaele; Bruni, Oliviero; Novelli, Luana; Picchietti, Matthew A; Picchietti, Daniel L

    2013-04-01

    To evaluate the leg movement (LM) time structure (periodicity and night distribution) during sleep in children with attention-deficit/hyperactivity disorder (ADHD) and their eventual changes after treatment with levodopa (L-DOPA). One group of ADHD patients (n=18) and another group of normal controls (n=17) were recruited; those with ADHD were randomized to L-DOPA or placebo therapy. At baseline (both groups) and after therapy (only patients) subjects underwent full-night polysomnography (PSG) and the leg motor pattern was evaluated with advanced tools of analysis particularly able to detect and describe LM time structure (periodicity and distribution). With respect to controls ADHD children showed prolonged sleep latency, increased number of stage shifts, awakenings, and percentage of sleep stage 1. Arousal index was higher in ADHD and also their PLMS index was slightly but considerably higher than controls; however, their periodicity was low and not different from controls. Only sleep latency was significantly reduced by L-DOPA treatment with all the other parameters (sleep scoring and LM activity) remaining substantially unmodified. LMs during sleep in children with ADHD do not show a highly periodic character and are not considerably modified by L-DOPA treatment; this finding has potential implications for drug treatment that might target the most prominent changes observed in our study including arousals and sleep structure disruption. Copyright © 2013 Elsevier B.V. All rights reserved.

  20. Metacognitive therapy vs. eye movement desensitization and reprocessing for posttraumatic stress disorder: study protocol for a randomized superiority trial.

    Science.gov (United States)

    Nordahl, Hans M; Halvorsen, Joar Øveraas; Hjemdal, Odin; Ternava, Mimoza Rrusta; Wells, Adrian

    2018-01-08

    The psychological treatment of choice for patients with severe posttraumatic stress disorder (PTSD) is cognitive behavioural exposure therapy or Eye Movement Desensitisation Reprocessing (EMDR). Whilst these are the most effective treatments, approximately 30-45% of the patients show no significant improvements and follow-up data are sparse. Furthermore, a proportion of patients with severe trauma does not benefit or avoid exposure therapy due to the potential to overwhelm them. Therefore, it is necessary to search for effective methods that do not require exposure. Metacognitive therapy (MCT), a recent treatment approach to PTSD that does not require exposure, has potential strong treatment effects but so far a comparison with EMDR has not been made. This study is a two-arm, parallel, randomized, superiority trial comparing the effectiveness of MCT with EMDR. One hundred patients with a primary diagnosis of chronic PTSD will be included and will receive 12 sessions of one of the treatments. The primary outcome is severity of PTSD symptoms assessed with the Posttraumatic Diagnostic Scale (PDS) measured post-treatment (3 months). Secondary outcomes include symptom severity (PDS) and measures of anxiety, depression, metacognitive beliefs at 3-month and 12-month follow up. This randomized study is the first to compare MCT with EMDR with 12-month follow-up. The study will indicate the comparative effectiveness of MCT against EMDR and the stability of effects when delivered in an outpatient clinical setting. ClinicalTrials.gov, NCT01955590 . Registered on 24 September 2013.

  1. Outcomes from eye movement desensitization and reprocessing in active-duty service members with posttraumatic stress disorder.

    Science.gov (United States)

    McLay, Robert N; Webb-Murphy, Jennifer A; Fesperman, Susan F; Delaney, Eileen M; Gerard, Steven K; Roesch, Scott C; Nebeker, Bonnie J; Pandzic, Ines; Vishnyak, Elizabeth A; Johnston, Scott L

    2016-11-01

    Eye movement desensitization and reprocessing (EMDR) is one of the therapy interventions recommended by the Veterans Affairs and Department of Defense Clinical Practice Guidelines. However, the literature concerning the effectiveness of this treatment modality in military service members is sparse. This study investigated the efficacy of EMDR in active-duty service members. We conducted an effectiveness study with a record review from active-duty military mental health clinics where clinical outcomes had been monitored over a 10-week period using self-report measures of posttraumatic stress and disability. Symptom scores were examined over time in 331 service members who met presumptive criteria for the disorder on the PTSD Checklist-Military Version (PCL-M), who were in psychotherapy, and who received (n = 46) or didn't receive (n = 285) EMDR. Results indicated that patients receiving EMDR had significantly fewer therapy sessions over 10 weeks but had significantly greater gains in their PCL-M scores than did individuals not receiving EMDR. Randomized, controlled trials are still needed, but these findings provide further support for the use of EMDR in service members with PTSD. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  2. Brief eclectic psychotherapy v. eye movement desensitisation and reprocessing therapy for post-traumatic stress disorder: randomised controlled trial.

    Science.gov (United States)

    Nijdam, Mirjam J; Gersons, Berthold P R; Reitsma, Johannes B; de Jongh, Ad; Olff, Miranda

    2012-03-01

    Trauma-focused cognitive-behavioural therapy (CBT) and eye movement desensitisation and reprocessing therapy (EMDR) are efficacious treatments for post-traumatic stress disorder (PTSD), but few studies have directly compared them using well-powered designs and few have investigated response patterns. To compare the efficacy and response pattern of a trauma-focused CBT modality, brief eclectic psychotherapy for PTSD, with EMDR (trial registration: ISRCTN64872147). Out-patients with PTSD were randomly assigned to brief eclectic psychotherapy (n = 70) or EMDR (n = 70) and assessed at all sessions on self-reported PTSD (Impact of Event Scale - Revised). Other outcomes were clinician-rated PTSD, anxiety and depression. Both treatments were equally effective in reducing PTSD symptom severity, but the response pattern indicated that EMDR led to a significantly sharper decline in PTSD symptoms than brief eclectic psychotherapy, with similar drop-out rates (EMDR: n = 20 (29%), brief eclectic psychotherapy: n = 25 (36%)). Other outcome measures confirmed this pattern of results. Although both treatments are effective, EMDR results in a faster recovery compared with the more gradual improvement with brief eclectic psychotherapy.

  3. Integration of serious games and wearable haptic interfaces for Neuro Rehabilitation of children with movement disorders: A feasibility study.

    Science.gov (United States)

    Bortone, Ilaria; Leonardis, Daniele; Solazzi, Massimiliano; Procopio, Caterina; Crecchi, Alessandra; Bonfiglio, Luca; Frisoli, Antonio

    2017-07-01

    The past decade has seen the emergence of rehabilitation treatments using virtual reality environments. One of the advantages in using this technology is the potential to create positive motivation, by means of engaging environments and tasks shaped in the form of serious games. In this work, we propose a novel Neuro Rehabilitation System for children with movement disorders, that is based on serious games in immersive virtual reality with haptic feedback. The system design aims to enhance involvement and engagement of patients, to provide congruent multi-sensory afferent feedback during motor exercises, and to benefit from the flexibility of virtual reality in adapting exercises to the patient's needs. We present a feasibility study of the method conducted through an experimental rehabilitation session in a group of 4 children with Cerebral Palsy and Developmental Dyspraxia, 4 Typically Developing children and 4 healthy adults. Subjects and patients were able to accomplish the proposed rehabilitation session and average performance of the motor exercises in patients were lower, although comparable, to healthy subjects. Together with positive comments reported by children after the rehabilitation session, results are encouraging for application of the method in a prolonged rehabilitation treatment.

  4. Antidepressants in Parkinson's disease. Recommendations by the movement disorder study group of the Neurological Association of Madrid.

    Science.gov (United States)

    Peña, E; Mata, M; López-Manzanares, L; Kurtis, M; Eimil, M; Martínez-Castrillo, J C; Navas, I; Posada, I J; Prieto, C; Ruíz-Huete, C; Vela, L; Venegas, B

    2016-03-19

    Although antidepressants are widely used in Parkinson's disease (PD), few well-designed studies to support their efficacy have been conducted. These clinical guidelines are based on a review of the literature and the results of an AMN movement disorder study group survey. Evidence suggests that nortriptyline, venlafaxine, paroxetine, and citalopram may be useful in treating depression in PD, although studies on paroxetine and citalopram yield conflicting results. In clinical practice, however, selective serotonin reuptake inhibitors are usually considered the treatment of choice. Duloxetine may be an alternative to venlafaxine, although the evidence for this is less, and venlafaxine plus mirtazapine may be useful in drug-resistant cases. Furthermore, citalopram may be indicated for the treatment of anxiety, atomoxetine for hypersomnia, trazodone and mirtazapine for insomnia and psychosis, and bupropion for apathy. In general, antidepressants are well tolerated in PD. However, clinicians should consider the anticholinergic effect of tricyclic antidepressants, the impact of serotonin-norepinephrine reuptake inhibitors on blood pressure, the extrapyramidal effects of antidepressants, and any potential interactions between monoamine oxidase B inhibitors and other antidepressants. Copyright © 2016 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  5. Longitudinal study of regional cerebral blood flow in elderly patients with idiopathic rapid eye movement sleep behavior disorder.

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    Sakurai, Hirofumi; Hanyu, Haruo; Inoue, Yuichi; Kanetaka, Hidekazu; Nakamura, Masaki; Miyamoto, Tomoyuki; Sasai, Taeko; Iwamoto, Toshihiko

    2014-01-01

    Single photon emission computed tomography (SPECT) studies showed that regional cerebral blood flow (rCBF) abnormalities in idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) are similar to those seen in Parkinson's disease (PD) and dementia with Lewy bodies (DLB). The aim of the present study was to assess the longitudinal rCBF changes in patients with iRBD using repeated SPECT. Nine patients with iRBD (7 men and 2 women; mean age 71.1 ± 3.2 years) underwent baseline and follow-up SPECT studies (a mean interval of 22.8 ± 9.2 months). A decrease in rCBF was found in bilateral parietotemporal and occipital areas at the first and second SPECT. Compared with the first SPECT, the second SPECT showed a decreased rCBF in the medial portions of the parietooccipital lobe with a significant decrease in rCBF of the right posterior cingulate. None of the patients showed any neurological deficits, including extrapyramidal and cerebellar signs, visual hallucinations, and neuropsychological impairments during the study. These findings suggest that longitudinal measurements of rCBF can show the presence of progressing neurodegenerative process in iRBD. Longitudinal SPECT study can be used to monitor the progression of degenerative process in patients with iRBD, even though there were no evolving neurological and neuropsychiatric impairments. © 2013 Japan Geriatrics Society.

  6. Functional priorities in daily life for children and young people with dystonic movement disorders and their families.

    Science.gov (United States)

    Gimeno, Hortensia; Gordon, Anne; Tustin, Kylee; Lin, Jean-Pierre

    2013-03-01

    This study aims to describe the most prevalent functional concerns of a group of young people with dystonia and their primary carers, and to explore the relationship between concerns, aetiology, severity of motor disability and manual ability. The Canadian Occupational Performance Measure (COPM) was completed with 57 children with dystonic movement disorders (65% males/35% females, mean 11.2 years (3.5-18.1)): 25% had primary dystonia, 75% secondary dystonia. Gross motor and manual function were classified using the Gross Motor Function Classification System (GMFCS) and the Manual Ability Classification System (MACS). COPM concerns were analysed with respect to aetiology and severity of motor disability. Almost three quarters of the respondents were GMFCS/MACS IV-V. All respondents had at least one concern around self-care. Other concerns included access to assistive technology, pain, dressing activities, use of tools and social participation. The nature and presence of concerns did not statistically differ according to the severity of gross motor or manual function impairment, though qualitative differences were noted. No statistical difference was found in relation to aetiology. Children and young people with dystonia have common functional concerns and priorities independent of the cause of dystonia, gross motor severity or manual function ability. Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  7. Impairment in emotion perception from body movements in individuals with bipolar I and bipolar II disorder is associated with functional capacity.

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    Vaskinn, Anja; Lagerberg, Trine Vik; Bjella, Thomas D; Simonsen, Carmen; Andreassen, Ole A; Ueland, Torill; Sundet, Kjetil

    2017-12-01

    Individuals with bipolar disorder present with moderate impairments in social cognition during the euthymic state. The impairment extends to theory of mind and to the perception of emotion in faces and voices, but it is unclear if emotion perception from body movements is affected. The main aim of this study was to examine if participants with bipolar disorder perform worse than healthy control participants on a task using point-light displays of human full figures moving in a manner indicative of a basic emotion (angry, happy, sad, fearful, neutral/no emotion). A secondary research question was whether diagnostic subtypes (bipolar I, bipolar II) and history of psychosis impacted on this type of emotion perception. Finally, symptomatic, neurocognitive, and functional correlates of emotion perception from body movements were investigated. Fifty-three individuals with bipolar I (n = 29) or bipolar II (n = 24) disorder, and 84 healthy control participants were assessed for emotion perception from body movements. The bipolar group also underwent clinical, cognitive, and functional assessment. Research questions were analyzed using analyses of variance and bivariate correlations. The bipolar disorder group differed significantly from healthy control participants for emotion perception from body movements (Cohen's d = 0.40). Analyses of variance yielded no effects of sex, diagnostic subtype (bipolar I, bipolar II), or history of psychosis. There was an effect of emotion, indicating that some emotions are easier to recognize. The lack of a significant group × emotion interaction effect points, however, to this being so regardless of the presence of bipolar disorder. Performance was unrelated to manic and depressive symptom load but showed significant associations with neurocognition and functional capacity. Individuals with bipolar disorder had a small but significant impairment in the ability to perceive emotions from body movement. The impairment was global, i

  8. Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society.

    Science.gov (United States)

    Bhatia, Kailash P; Bain, Peter; Bajaj, Nin; Elble, Rodger J; Hallett, Mark; Louis, Elan D; Raethjen, Jan; Stamelou, Maria; Testa, Claudia M; Deuschl, Guenther

    2018-01-01

    Consensus criteria for classifying tremor disorders were published by the International Parkinson and Movement Disorder Society in 1998. Subsequent advances with regard to essential tremor, tremor associated with dystonia, and other monosymptomatic and indeterminate tremors make a significant revision necessary. Convene an international panel of experienced investigators to review the definition and classification of tremor. Computerized MEDLINE searches in January 2013 and 2015 were conducted using a combination of text words and MeSH terms: "tremor", "tremor disorders", "essential tremor", "dystonic tremor", and "classification" limited to human studies. Agreement was obtained using consensus development methodology during four in-person meetings, two teleconferences, and numerous manuscript reviews. Tremor is defined as an involuntary, rhythmic, oscillatory movement of a body part and is classified along two axes: Axis 1-clinical characteristics, including historical features (age at onset, family history, and temporal evolution), tremor characteristics (body distribution, activation condition), associated signs (systemic, neurological), and laboratory tests (electrophysiology, imaging); and Axis 2-etiology (acquired, genetic, or idiopathic). Tremor syndromes, consisting of either isolated tremor or tremor combined with other clinical features, are defined within Axis 1. This classification scheme retains the currently accepted tremor syndromes, including essential tremor, and provides a framework for defining new syndromes. This approach should be particularly useful in elucidating isolated tremor syndromes and syndromes consisting of tremor and other signs of uncertain significance. Consistently defined Axis 1 syndromes are needed to facilitate the elucidation of specific etiologies in Axis 2. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  9. Night-to-night variability of periodic leg movements during sleep in restless legs syndrome and periodic limb movement disorder: comparison between the periodicity index and the PLMS index.

    Science.gov (United States)

    Ferri, Raffaele; Fulda, Stephany; Manconi, Mauro; Högl, Birgit; Ehrmann, Laura; Ferini-Strambi, Luigi; Zucconi, Marco

    2013-03-01

    The number of periodic leg movements during sleep (PLMS index) shows high night-to-night variability, requiring multiple nights for its reliable estimation. It is currently not known if this is also the case for the degree of periodicity of leg movements, quantified by the Periodicity index. To compare night-to-night variability of PLMS and Periodicity indices in patients with restless legs syndrome (RLS) or periodic limb movement disorder (PLMD). Eighteen idiopathic RLS patients and 9 PLMD patients were recruited. Subjects underwent two consecutive full night polysomnographic studies. Polysomnographic recordings were scored and leg movement activity analyzed during sleep for the computation of the PLMS and Periodicity indices. In both patient groups, the Periodicity index showed a significantly lower degree of variability than that of PLMS index, being >6.5 times lower in RLS patients and 2 times lower in PLMD patients. These data support the use of the Periodicity index in the evaluation of PLMS in RLS and PLMD and indicate that this parameter seems to be more stable than the widely used PLMS index which has higher night-to-night variability. Copyright © 2012 Elsevier B.V. All rights reserved.

  10. Outcomes of long-term iron supplementation in pediatric restless legs syndrome/periodic limb movement disorder (RLS/PLMD).

    Science.gov (United States)

    Dye, Thomas J; Jain, Sejal V; Simakajornboon, Narong

    2017-04-01

    Restless legs syndrome (RLS) and periodic limb movement disorder (PLMD) are thought to center around a genetically mediated sensitivity to iron insufficiency. Previous studies have shown the effectiveness of short-term iron therapy in children with low iron storage. Little is known, however, about long-term iron treatment in children with RLS and PLMD. Therefore, we performed this study to assess the long-term effect of iron therapy in children with RLS and PLMD. A retrospective chart review was performed for children who met the following criteria: A) diagnosed as having either RLS or PLMD, B) started on iron supplementation, C) followed up for >2 years in a sleep clinic. Baseline values for iron, ferritin, and periodic limb movement of sleep index (PLMS index) were defined in the three months leading up to the initiation of iron therapy. Values were also computed for follow-up periods of 3-6 months, 1-2 years, and >2 years. Serum iron and ferritin levels and PLMS index were compared between baseline and all subsequent follow-ups. In total, 105 patients met inclusion criteria, of whom 64 were diagnosed with PLMD alone, seven with RLS alone, and 35 with both RLS and PLMD. The average age was 10.2 ± 5.3 years. Compared to the baseline (27.4 ± 12.1 ng/ml), the average ferritin values at 3-6 months (45.62 ± 21.2 ng/ml, p 2 years (54.7 ± 40.5 ng/ml, p 2 years (10 ± 14.5/h, p 2 years after iron therapy initiation in our RLS/PLMD cohort with a long-term follow-up. Iron therapy appears to lead to long-lasting improvements in children with RLS/PLMD. Copyright © 2016 Elsevier B.V. All rights reserved.

  11. Aggression Regulation in Day Treatment of Eating Disorders: Two-Centre RCT of a Brief Body and Movement-Oriented Intervention.

    Science.gov (United States)

    Boerhout, Cees; Swart, Marte; Voskamp, Marjon; Troquete, Nadine A C; van Busschbach, Jooske T; Hoek, Hans W

    2017-01-01

    The objective is to evaluate a body and movement-oriented intervention on aggression regulation, specifically aimed towards reducing anger internalization in patients with an eating disorder. Patients were randomized to treatment-as-usual (TAU) plus the intervention (n = 38) or to TAU only (n = 32). The intervention was delivered by a psychomotor therapist. TAU consisted of multidisciplinary day treatment (3-5 days per week during 3-9 months). Anger coping (Self-Expression and Control Scale) and eating pathology (Eating Disorder Examination-Self-report Questionnaire) were measured at baseline and follow-up. Differences between pre-intervention and post-intervention scores were tested by using repeated measures ANOVA. The intervention group showed a significantly larger decrease of anger internalization than the control group (η 2  = 0.16, p = 0.001). Both groups showed a significant reduction in eating pathology, but differences between groups were not significant. A body and movement-oriented therapy seems a viable add-on for treating anger internalization in patients with an eating disorder. Copyright © 2016 John Wiley & Sons, Ltd and Eating Disorders Association. © 2016 John Wiley & Sons, Ltd and Eating Disorders Association.

  12. Movement disorders in 28 HIV-infected patients Distúrbios do movimento em 28 pacientes infectados pelo HIV

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    James Pitágoras de Mattos

    2002-09-01

    Full Text Available From 1986 to 1999, 2460 HIV-positive inpatients were seen in our Hospital. Neurological abnormalities were detected in 1053 (42.8% patients. In this group, 28 (2.7% had involuntary movements, 14 (50% with secondary parkinsonism, six (21.4% with hemichorea/hemiballismus, four (14.2% with myoclonus, two (7.2% with painful legs and moving toes, one (3.6% with hemidystonia and one (3.6% with Holmes' tremor. The HIV itself (12 patients, toxoplasmosis of the midbrain (1 and metoclopramide-related symptoms (1 were the most probable causes for the parkinsonism. All patients with hemichorea/hemiballismus were men and in all of them toxoplasmosis of the basal ganglia, mostly on the right side, was the cause of the involuntary movements. Generalized myoclonus was seen in two patients and they were due to toxoplasmosis and HIV-encephalopathy respectively; two others presented with spinal myoclonus. The two patients with painful legs and moving toes had an axonal neuropathy. The patient with hemidystonia suffered from toxoplasmosis in the basal ganglia and the patient with Holmes' tremor had co-infection with tuberculosis and toxoplasmosis affecting the midbrain and cerebellum. We conclude that HIV-infected patients can present almost any movement disorder. They can be related to opportunistic infections, medications, mass lesions and possibly to a direct or indirect effect of the HIV itself.De 1986 a 1999, 2460 pacientes HIV-positivos internados foram avaliados em nosso Hospital. Alterações neurológicas foram encontradas em 1053 (42,8%. Neste grupo, 28 (2,7% exibiam movimentos involuntários, 14 (50% com parkinsonismo secundário, seis (21,4% com hemicoréia/hemiballismo, quatro (14,2% com mioclonias, dois (7,2% com painful legs and moving toes, um (3,6% com hemidistonia e um (3,6% com tremor de Holmes. No grupo com parkinsonismo, 12 eram, provavelmente, secundários ao HIV; um à toxoplasmose mesencefálica e outro desencadeado pela metoclopramida

  13. Detection of RNA in the Plasma of Patients with Sporadic Creutzfeldt–Jakob Disease, Gerstmann–Straüssler Syndrome and Other Non-Transmissible Spongiform Encephalopathy Brain Disorders

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    Kazuo Tsukui

    2010-01-01

    Full Text Available The infectious agent of transmissible spongiform encephalopathy (TSE was assumed to be the aggregate of abnormal prion protein isoform (PrPsc. We observed that lowering the pH of 3% SDS-inoculated plasma or brain homogenate after PK digestion to 4.5 (acidic SDS condition enabled to precipitate proteinase K-resistant prion protein (PrPres in plasma as well as PrPres in the brain with synthetic poly-A RNA as affinity aggregate. Therefore, we determined if RNA molecules could be used for discriminating TSE patients from healthy individuals. We also examined the plasma of patients with classical Creutzfeldt–Jakob disease (CJD and other brain disorders who were not diagnosed with TSE. The results indicated that RNA approximately 1.5–2.0 kb in length was commonly observed in the plasma of patients with brain disorders but was not detected in the plasma of healthy volunteers. Enhanced expression of RNA and its protection from endogenous nucleases might occur in the former group of patients. Moreover, we speculate that the non-transmissible neuronal disorders overlap with prion diseases.

  14. When an object appears unexpectedly: anticipatory movement and object circumvention in individuals with and without Developmental Coordination Disorder.

    Science.gov (United States)

    Wilmut, K; Barnett, A L

    2017-05-01

    Obstacles often appear unexpectedly in our pathway and these require us to make adjustments to avoid collision. Previous research has demonstrated that healthy adults will make anticipatory adjustments to gait where they have been told there is the possibility of an obstacle appearing. One population that may find this type of anticipatory movement difficult is individuals with Developmental Coordination Disorder (DCD). The current study considered how individuals with and without DCD adjust to the possibility of an obstacle appearing which would require circumvention. Fortyfour individuals with DCD and 44 age-matched controls (aged from 7 to 34 years of age) walked down an 11 m walkway under three conditions. Initially they were told this was a clear pathway and nothing in the environment would change (1, no possibility of an obstacle, no obstacle). They then performed a series of trials in which a gate may (2, possibility of an obstacle, obstacle) or may not (3, possibility of an obstacle, no obstacle) partially obstruct their pathway. We found that all participants increased medio-lateral trunk acceleration when there was the possibility of an obstacle but before the obstacle appeared, in addition the typical adults and older children also increased step width. When describing circumvention we found that the younger children showed an increase in trunk velocity and acceleration in all three directions compared to older children and adults. We also found that the individuals with DCD adjusted their path sooner and deviated more than their peers. The degree of adjustment to step width in anticipation of an obstacle was related to later medio-lateral velocity and timing of the deviation. Therefore, the lack of 'readying' the system where there is the possibility of an obstacle appearing seen in the individuals with DCD and the younger typical children may explain the increased medio-lateral velocity seen during circumvention.

  15. Study on microstructure of corpus striatum in patients with idiopathic rapid eye movement sleep behavior disorder using magnetic resonance imaging

    Directory of Open Access Journals (Sweden)

    Ya-meng ZHANG

    2017-07-01

    Full Text Available Objective To investigate the structure of corpus striatum and the integrity of white matter fiber in patients with Parkinson's disease (PD and idiopathic rapid eye movement sleep behavior disorder (iRBD.  Methods Twelve patients with iRBD, 12 patients with PD and 10 healthy subjects that were well matched in gender, age and education were enrolled in this study. Head MRI examination was performed to all subjects to observe the changes of corpus striatum structure (the gray matter volume and the integrity of white matter fiber [fractional anisotropy (FA] by combining voxel?based morphometry (VBM and diffusion tensor imaging (DTI.  Results Compared with healthy subjects, the gray matter volume of left caudate nucleus was significantly decreased (P < 0.005, and FA values of left caudate nucleus (P < 0.005, right caudate nucleus (P < 0.001 and right putamen (P < 0.05 were all significantly reduced in iRBD patients; FA value of right putamen was significantly decreased in PD patients (P < 0.05. Compared with PD patients, the gray matter volume of left caudate nucleus of iRBD patients was significantly reduced (P < 0.001, FA values of left caudate nucleus (P < 0.01 and right caudate nucleus (P < 0.005 of iRBD patients were significantly reduced.  Conclusions There is atrophy of gray matter volume and extensive white matter fiber impairment in corpus striatum of patients with iRBD, and the white matter fiber impairment was similar to PD, which provides an anatomical evidence for iRBD being presymptom of PD. DOI: 10.3969/j.issn.1672-6731.2017.05.008

  16. Treatment of essential tremor: a systematic review of evidence and recommendations from the Italian Movement Disorders Association.

    Science.gov (United States)

    Zappia, Mario; Albanese, Alberto; Bruno, Elisa; Colosimo, Carlo; Filippini, Graziella; Martinelli, Paolo; Nicoletti, Alessandra; Quattrocchi, Graziella; Abbruzzese, Giovanni; Berardelli, Alfredo; Allegra, Roberta; Aniello, Maria Stella; Elia, Antonio E; Martino, Davide; Murgia, Daniela; Picillo, Marina; Squintani, Giovanna

    2013-03-01

    Essential tremor (ET) is one of the most common movement disorders of adults, characterized by postural and kinetic tremor. It often causes embarrassment and more rarely serious disability, requiring treatment. To assess the current state of knowledge on ET therapy and produce recommendations based on the analysis of evidence the authors reviewed the literature regarding pharmacologic and surgical therapies, providing a quality assessment of the studies and the strength of recommendations for each treatment. A committee of experts selected clinical-based questions to guide the search. A systematic literature review was performed to identify all the studies conducted on patients with ET published until September 2010. Articles were classified according to GRADE evidence profile, a system for grading the quality of evidence and the strength of recommendation based on the quality of the studies. The quality of evidence was often rated as "low" or "very low" for the studies analyzed. Propranolol, long-acting propranolol, primidone, and topiramate are recommended as first-line therapy, with restrictions for their side effects. Arotinolol, sotalol, ICI 118.551 and LI 32.468 (experimental drugs), zonisamide, gabapentin, alprazolam, clozapine, and olanzapine are recommended as a second-line treatment. Botulinum toxin type A and thalamic deep-brain stimulation are recommended for refractory ET. The results highlight the need of well-designed direct comparison trials aimed at evaluating relative effectiveness and safety of the drugs currently used in clinical practice. Furthermore, additional controlled clinical trials are required to define other possible treatment strategies for ameliorating the management of ET.

  17. Magnetic Resonance Imaging Biomarkers to Assess Substantia Nigra Damage in Idiopathic Rapid Eye Movement Sleep Behavior Disorder.

    Science.gov (United States)

    Pyatigorskaya, Nadya; Gaurav, Rahul; Arnaldi, Dario; Leu-Semenescu, Smaranda; Yahia-Cherif, Lydia; Valabregue, Romain; Vidailhet, Marie; Arnulf, Isabelle; Lehéricy, Stephane

    2017-11-01

    Idiopathic rapid eye movement sleep behavior disorder (iRBD) is considered to be a prodromal stage of Parkinson's disease (PD). At PD onset, 40 to 70% of the dopaminergic neurons in the substantia nigra (SN) are already lost. Thus, milder SN damage is expected in participants with iRBD. We aimed to quantify SN damage in participants with iRBD using multimodal magnetic resonance imaging (MRI) and to determine biomarker efficacy in preclinical Parkinsonism. Nineteen participants with iRBD and 18 controls underwent 3-Tesla MRI, including diffusion tensor imaging, neuromelanin (NM)-sensitive imaging, and T2* mapping. Regions of interest in the SN area were drawn in NM-sensitive and T2-weighted images. The volume and normalized signal intensity in NM-sensitive images, R2*, and diffusion tensor measures were quantified in the SN. Additionally, two raters performed visual analysis of the SN using the NM-sensitive images. Participants with iRBD showed a reduction in the NM-sensitive volume and signal intensity and a decrease in fractional anisotropy (FA) versus controls, but showed no differences in axial, radial, or mean diffusivity or in R2*. For NM-sensitive volume and signal intensity, the receiver operating characteristic analysis discriminated between participants with iRBD and controls with a diagnostic accuracy of 0.86 and 0.79, respectively, whereas the accuracy was 0.77 for FA. The three biomarkers had a combined accuracy of 0.92. The fraction of participants correctly characterized by visual assessment was 0.81. NM-sensitive imaging and FA allowed for the detection of SN damage in participants with iRBD with good diagnostic accuracy. These measures may represent valuable biomarkers for prodromal Parkinsonism. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

  18. Reduced P300 amplitude during a visuospatial attention task in idiopathic rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Byun, Jung-Ick; Lee, Byeong Uk; Kim, Minah; Sunwoo, Jun-Sang; Lim, Jung-Ah; Moon, Jangsup; Lee, Soon-Tae; Jung, Keun-Hwa; Chu, Kon; Kim, Man-Ho; Jeong, Min Hee; Cha, Kwang Su; Choi, Jeong Woo; Kim, Kyung Hwan; Lee, Sang Kun; Jung, Ki-Young

    2017-10-01

    Idiopathic rapid eye movement sleep behavior disorder (IRBD) patients are prone to cognitive deficits, which include attention, executive, and visuospatial dysfunctions. Even patients with normal cognition may exhibit subclinical electrophysiological dysfunction. This study aimed to evaluate visuospatial attention processing in IRBD patients with normal cognition and to compare their findings with those of age- and sex-matched healthy controls. We recorded event-related potentials (ERPs) and performance measures during a variant of the Posner task in 14 IRBD patients and 14 control subjects. Behavioral data and the mean P300 amplitude were compared between groups. No group difference was found for reaction time or accuracy, but a significant group effect was observed for the P300 amplitude. IRBD patients had reduced P300 amplitude (μV) than controls in both valid (IRBD: 0.53 ± 1.05 vs Controls: 1.61 ± 0.95; p = 0.008) and invalid (IRBD: 0.74 ± 0.99 vs Controls: 1.73 ± 0.86; p = 0.009) conditions. The P300 amplitude was correlated with Montreal cognitive assessment (MOCA) scores (r = 0.424, p = 0.024). Reduced P300 amplitude during the Posner task provides electrophysiological evidence for subclinical visuospatial attention deficits in cognitively normal IRBD patients. The results of this study imply that cortical dysfunction is already present in patients with IRBD in their early disease stage. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. The Movement Disorders Society criteria for the diagnosis of Parkinson's disease dementia: their usefulness and limitations in elderly patients.

    Science.gov (United States)

    Kiesmann, Michèle; Chanson, Jean-Baptiste; Godet, Julien; Vogel, Thomas; Schweiger, Laetitia; Chayer, Saïd; Kaltenbach, Georges

    2013-10-01

    The aim of this study was to assess the performance of the Movement Disorders Society (MDS) criteria for the diagnosis of Parkinson's disease dementia (PDD) in the elderly, and also to evaluate the relevance of applying other tests in this patient population. The MDS criteria include a first short part in checklist form, and a second part which is used as a basis for reference and consists of an in-depth neuropsychological examination. Forty consecutive PD patients presenting with cognitive complaints were enrolled. An assessment was made of the performances of the MDS checklist compared with the MDS exhaustive cognitive examination which was used as a basis for reference, and with other cognitive tests including the Mattis Dementia Rating Scale (MDRS), the French version of the Grober and Buschke test, the verbal fluency test, the Rey-Osterreith complex figure and the paced auditory serial addition test. Out of a total of 40 PD subjects (mean age: 80.5 ± 4.9 years), 20 were diagnosed with PDD according to the checklist and 31 on the basis of the exhaustive examination, i.e. with 11 more patients diagnosed via the latter. The sensitivity of the checklist for the diagnosis of PDD was 0.64, with a specificity of 1.00. The use of the MDRS for PDD diagnosis with a cut-off at ≤ 120 showed a sensitivity of 0.80 and a specificity of 1.00, while at ≤ 132 it displayed a sensitivity of 1.00 and a specificity of 0.444. The specificity of the checklist for the diagnosis of PDD in the elderly was confirmed, but it was lacking in sensitivity. It was also found that the MDRS could be helpful in the diagnosis and screening of PDD.

  20. The driver landscape of sporadic chordoma.

    Science.gov (United States)

    Tarpey, Patrick S; Behjati, Sam; Young, Matthew D; Martincorena, Inigo; Alexandrov, Ludmil B; Farndon, Sarah J; Guzzo, Charlotte; Hardy, Claire; Latimer, Calli; Butler, Adam P; Teague, Jon W; Shlien, Adam; Futreal, P Andrew; Shah, Sohrab; Bashashati, Ali; Jamshidi, Farzad; Nielsen, Torsten O; Huntsman, David; Baumhoer, Daniel; Brandner, Sebastian; Wunder, Jay; Dickson, Brendan; Cogswell, Patricia; Sommer, Josh; Phillips, Joanna J; Amary, M Fernanda; Tirabosco, Roberto; Pillay, Nischalan; Yip, Stephen; Stratton, Michael R; Flanagan, Adrienne M; Campbell, Peter J

    2017-10-12

    Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases. Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represent a novel cancer gene in chordoma.Chordoma is a rare often incurable malignant bone tumour. Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations in LYST, a potential novel cancer gene in chordoma.

  1. Overview of Movement Disorders

    Science.gov (United States)

    ... temporary, usually causing little inconvenience. Others, such as Parkinson disease , are serious and progressive, impairing the ability to speak, use the hands, walk, and maintain balance when standing. Locating the Basal Ganglia The basal ganglia are collections of nerve cells ...

  2. Genetics of movement disorders

    National Research Council Canada - National Science Library

    Pulst, Stefan-M

    2003-01-01

    ... and retrieval system, without permission in writing from the publisher. Requests for permission to make copies of any part of the work should be mailed to: Permissions Department, Academic Press, 6277 Se...

  3. The Movement Disorder Society Evidence-Based Medicine Review Update: Treatments for the Non-Motor Symptoms of Parkinson's Disease

    Science.gov (United States)

    Seppi, Klaus; Weintraub, Daniel; Coelho, Miguel; Perez-Lloret, Santiago; Fox, Susan H.; Katzenschlager, Regina; Hametner, Eva-Maria; Poewe, Werner; Rascol, Olivier; Goetz, Christopher G.; Sampaio, Cristina

    2014-01-01

    The Movement Disorder Society (MDS) Task Force on Evidence-Based Medicine (EBM) Review of Treatments for Parkinson's Disease (PD) was first published in 2002 and was updated in 2005 to cover clinical trial data up to January 2004 with the focus on motor symptoms of PD. In this revised version the MDS task force decided it was necessary to extend the review to non-motor symptoms. The objective of this work was to update previous EBM reviews on treatments for PD with a focus on non-motor symptoms. Level-I (randomized controlled trial, RCT) reports of pharmacological and nonpharmacological interventions for the non-motor symptoms of PD, published as full articles in English between January 2002 and December 2010 were reviewed. Criteria for inclusion and ranking followed the original program outline and adhered to EBM methodology. For efficacy conclusions, treatments were designated: efficacious, likely efficacious, unlikely efficacious, non-efficacious, or insufficient evidence. Safety data were catalogued and reviewed. Based on the combined efficacy and safety assessment, Implications for clinical practice were determined using the following designations: clinically useful, possibly useful, investigational, unlikely useful, and not useful. Fifty-four new studies qualified for efficacy review while several other studies covered safety issues. Updated and new efficacy conclusions were made for all indications. The treatments that are efficacious for the management of the different non-motor symptoms are as follows: pramipexole for the treatment of depressive symptoms, clozapine for the treatment of psychosis, rivastigmine for the treatment of dementia, and botulinum toxin A (BTX-A) and BTX-B as well as glycopyrrolate for the treatment of sialorrhea. The practical implications for these treatments, except for glycopyrrolate, are that they are clinically useful. Since there is insufficient evidence of glycopyrrolate for the treatment of sialorrhea exceeding 1 week, the

  4. Comparison Between Sporadic and Misdiagnosed Sporadic Creutzfeldt-Jakob Disease: A Report of Two Cases.

    Science.gov (United States)

    Zhao, Xiongfei; Yu, Yingxin; Zhao, Zhiru; Xu, Jiaping

    2015-06-01

    Definite accurate diagnosis for Creutzfeldt-Jakob disease (CJD) depends on neuropathologic examination of brain biopsy or autopsy. However, transmissible nature makes the invasive examination dangerous. This study was set to determine that the clinical features are for the diagnosis of CJD through a comparison study. We compared clinical features of two cases with initial diagnosis of sporadic CJD. One case was finally diagnosed as definite sporadic CJD. According to World Health Organization diagnosis criteria, the other one, which had been diagnosed as probable sporadic CJD, was confirmed as limbic encephalitis after long-term follow-up. Compared with the case of definite sporadic CJD, the misdiagnosed case did not present typical electroencephalogram (EEG) and diffusion-weighted in magnetic resonance images (DWI) of CJD. However, cerebrospinal fluid in the misdiagnosed patient showed 14-3-3 protein positivity. The patient conditions improved after treatment. Through this case comparison, we conclude that EEG and DWI are necessary for accurate diagnosis of sporadic CJD. Further, long-term follow-up is crucial to diagnosis and treatment of CJD.

  5. Probable rapid eye movement sleep behavior disorder, nocturnal disturbances and quality of life in patients with Parkinson’s disease: a case-controlled study using the rapid eye movement sleep behavior disorder screening questionnaire

    Directory of Open Access Journals (Sweden)

    Suzuki Keisuke

    2013-02-01

    Full Text Available Abstract Background Increasing evidence provides a clear association between rapid eye movement sleep behavior disorders (RBD and Parkinson’s disease (PD, but the clinical features that determine the co-morbidity of RBD and PD are not yet fully understood. Methods We evaluated the characteristics of nocturnal disturbances and other motor and non-motor features related to RBD in patients with PD and the impact of RBD on their quality of life. Probable RBD (pRBD was evaluated using the Japanese version of the RBD screening questionnaire (RBDSQ-J. Results A significantly higher frequency of pRBD was observed in PD patients than in the controls (RBDSQ-J ≥ 5 or ≥ 6: 29.0% vs. 8.6%; 17.2% vs. 2.2%, respectively. After excluding restless legs syndrome and snorers in the PD patients, the pRBD group (RBDSQ-J≥5 showed higher scores compared with the non-pRBD group on the Parkinson’s disease sleep scale-2 (PDSS-2 total and three-domain scores. Early morning dystonia was more frequent in the pRBD group. The Parkinson’s Disease Questionnaire (PDQ-39 domain scores for cognition and emotional well-being were higher in the patients with pRBD than in the patients without pRBD. There were no differences between these two groups with respect to the clinical subtype, disease severity or motor function. When using a cut-off of RBDSQ-J = 6, a similar trend was observed for the PDSS-2 and PDQ-39 scores. Patients with PD and pRBD had frequent sleep onset insomnia, distressing dreams and hallucinations. The stepwise linear regression analysis showed that the PDSS-2 domain “motor symptoms at night”, particularly the PDSS sub-item 6 “distressing dreams”, was the only predictor of RBDSQ-J in PD. Conclusion Our results indicate a significant impact of RBD co-morbidity on night-time disturbances and quality of life in PD, particularly on cognition and emotional well-being. RBDSQ may be a useful tool for not only screening RBD in PD patients

  6. Comparison of eye movement desensitization and reprocessing therapy, cognitive behavioral writing therapy, and wait-list in pediatric posttraumatic stress disorder following single-incident trauma : a multicenter randomized clinical trial

    NARCIS (Netherlands)

    de Roos, C.; van der Oord, S.; Zijlstra, B.; Lucassen, S.; Perrin, S.; Emmelkamp, P.; de Jongh, A.

    2017-01-01

    Background: Practice guidelines for childhood posttraumatic stress disorder (PTSD) recommend trauma-focused psychotherapies, mainly cognitive behavioral therapy (CBT). Eye movement desensitization and reprocessing (EMDR) therapy is a brief trauma-focused, evidence-based treatment for PTSD in adults,

  7. A prospective, naturalistic follow-up study of treatment outcomes with clonazepam in rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Li, Shirley Xin; Lam, Siu Ping; Zhang, Jihui; Yu, Mandy Wai Man; Chan, Joey Wing Yin; Liu, Yaping; Lam, Venny Kwai Ho; Ho, Crover Kwok Wah; Zhou, Junying; Wing, Yun Kwok

    2016-05-01

    Rapid eye movement sleep behavior disorder (RBD) is characterized by prominent dream-enacting behaviors, often resulting in sleep-related injuries. This study aimed to prospectively examine the treatment response of people with RBD treated with clonazepam, by quantitatively delineating the characteristic changes in the clinical and polysomnographic features, and to explore the factors associated with this response. Patients diagnosed with idiopathic RBD (iRBD) were consecutively recruited and invited to complete clinical and polysomnographic (PSG) assessments and self-administered questionnaires (including the modified REM Sleep Behavior Questionnaire, RBDQ-3M) before and after the initiation of treatment with clonazepam. Thirty-nine iRBD patients (male: 74.4%, mean age at diagnosis: 68.3 ± 7.8 years) were recruited with a follow-up duration of 28.8 ± 13.3 months. Clonazepam was offered as the first-line treatment (starting dose: 0.43 ± 0.16 mg, range: 0.125-1.00; dose at follow-up: 0.98 ± 0.63 mg, range: 0.125-3). Treatment response, as defined by a complete elimination of sleep-related injuries and potentially injurious behaviors to self and/or to bed partner, at follow-up was reported in 66.7% of the overall study subjects. Frequency of disturbing dreams with violent and frightening content and vigorous behavioral RBD symptoms was significantly reduced, while residual nocturnal symptoms and an increase in REM-related EMG activities were observed at follow-up. Less optimal treatment outcomes were found to be associated with the presence of comorbid obstructive sleep apnea and earlier onset of RBD. Clonazepam differentially changes dream affect and content, as well as reduces vigorous verbal and motor behaviors. Residual RBD symptoms are common, despite treatment. Other more effective alternative or adjunctive interventions are needed for better clinical management of RBD. Copyright © 2016 Elsevier B.V. All rights reserved.

  8. The Clinical Phenotype of Idiopathic Rapid Eye Movement Sleep Behavior Disorder at Presentation: A Study in 203 Consecutive Patients.

    Science.gov (United States)

    Fernández-Arcos, Ana; Iranzo, Alex; Serradell, Mónica; Gaig, Carles; Santamaria, Joan

    2016-01-01

    To describe the clinical phenotype of idiopathic rapid eye movement (REM) sleep behavior disorder (IRBD) at presentation in a sleep center. Clinical history review of 203 consecutive patients with IRBD identified between 1990 and 2014. IRBD was diagnosed by clinical history plus video-polysomnographic demonstration of REM sleep with increased electromyographic activity linked to abnormal behaviors. Patients were 80% men with median age at IRBD diagnosis of 68 y (range, 50-85 y). In addition to the already known clinical picture of IRBD, other important features were apparent: 44% of the patients were not aware of their dream-enactment behaviors and 70% reported good sleep quality. In most of these cases bed partners were essential to convince patients to seek medical help. In 11% IRBD was elicited only after specific questioning when patients consulted for other reasons. Seven percent did not recall unpleasant dreams. Leaving the bed occurred occasionally in 24% of subjects in whom dementia with Lewy bodies often developed eventually. For the correct diagnosis of IRBD, video-polysomnography had to be repeated in 16% because of insufficient REM sleep or electromyographic artifacts from coexistent apneas. Some subjects with comorbid obstructive sleep apnea reported partial improvement of RBD symptoms following continuous positive airway pressure therapy. Lack of therapy with clonazepam resulted in an increased risk of sleep related injuries. Synucleinopathy was frequently diagnosed, even in patients with mild severity or uncommon IRBD presentations (e.g., patients who reported sleeping well, onset triggered by a life event, nocturnal ambulation) indicating that the development of a neurodegenerative disease is independent of the clinical presentation of IRBD. We report the largest IRBD cohort observed in a single center to date and highlight frequent features that were not reported or not sufficiently emphasized in previous publications. Physicians should be aware of

  9. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

    Science.gov (United States)

    Coughlin, Curtis R; Scharer, Gunter H; Friederich, Marisa W; Yu, Hung-Chun; Geiger, Elizabeth A; Creadon-Swindell, Geralyn; Collins, Abigail E; Vanlander, Arnaud V; Coster, Rudy Van; Powell, Christopher A; Swanson, Michael A; Minczuk, Michal; Van Hove, Johan L K; Shaikh, Tamim H

    2015-08-01

    Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present. Although mutations in either mitochondrial DNA or POLG are often present, other nuclear defects in mitochondrial DNA replication and protein translation have been associated with a severe epileptic encephalopathy. We identified a proband with an epileptic encephalopathy, complex movement disorder and a combined mitochondrial respiratory chain enzyme deficiency. The child presented with neurological regression, complex movement disorder and intractable seizures. A combined deficiency of mitochondrial complexes I, III and IV was noted in liver tissue, along with increased mitochondrial DNA content in skeletal muscle. Incomplete assembly of complex V, using blue native polyacrylamide gel electrophoretic analysis and complex I, using western blotting, suggested a disorder of mitochondrial transcription or translation. Exome sequencing identified compound heterozygous mutations in CARS2, a mitochondrial aminoacyl-tRNA synthetase. Both mutations affect highly conserved amino acids located within the functional ligase domain of the cysteinyl-tRNA synthase. A specific decrease in the amount of charged mt-tRNA(Cys) was detected in patient fibroblasts compared with controls. Retroviral transfection of the wild-type CARS2 into patient skin fibroblasts led to the correction of the incomplete assembly of complex V, providing functional evidence for the role of CARS2 mutations in disease aetiology. Our findings indicate that mutations in CARS2 result in a mitochondrial translational defect as seen in individuals with mitochondrial epileptic encephalopathy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  10. Postural reconfiguration and cycle-to-cycle variability in patients with work-related musculoskeletal disorders compared to healthy controls and in relation to pain emerging during a repetitive movement task

    NARCIS (Netherlands)

    Longo, A.; Meulenbroek, R.G.J.; Haid, T.; Federolf, P.A.

    2018-01-01

    Background: Movement variability in sustained repetitive tasks is an important factor in the context of work-related musculoskeletal disorders. While a popular hypothesis suggests that movement variability can prevent overuse injuries, pain evolving during task execution may also cause variability.

  11. What is the role of eye movements in eye movement desensitization and reprocessing (EMDR) for post-traumatic stress disorder (PTSD)? a review.

    Science.gov (United States)

    Jeffries, Fiona W; Davis, Paul

    2013-05-01

    Controversy continues to exist regarding how EMDR works and whether its mechanisms differ from those at work in standard exposure techniques. To investigate first whether eye movement bilateral stimulation is an essential component of EMDR and, second, the current status of its theoretical basis. A systematic search for relevant articles was conducted in databases using standard methodology. Clinical research evidence is contradictory as to how essential EMs are in PTSD treatment. More positive support is provided by analogue studies. With regards to potential theoretical support, some evidence was found suggesting bilateral stimulation first increases access to episodic memories; and second that it could act on components of working memory which makes focusing on the traumatic memories less unpleasant and thereby improves access to these memories. The results suggest support for the contention that EMs are essential to this therapy and that a theoretical rationale exists for their use. Choice of EMDR over trauma-focused CBT should therefore remain a matter of patient choice and clinician expertise; it is suggested, however, that EMs may be more effective at reducing distress, and thereby allow other components of treatment to take place.

  12. Fostering Social Cognition through an Imitation- and Synchronization-Based Dance/Movement Intervention in Adults with Autism Spectrum Disorder: A Controlled Proof-of-Concept Study.

    Science.gov (United States)

    Koehne, Svenja; Behrends, Andrea; Fairhurst, Merle T; Dziobek, Isabel

    2016-01-01

    Since social cognition is impaired in individuals with autism spectrum disorder (ASD), this study aimed at establishing the efficacy of a newly developed imitation- and synchronization-based dance/movement intervention (SI-DMI) in fostering emotion inference and empathic feelings (emotional reaction to feelings of others) in adults with high-functioning ASD. Fifty-five adults with ASD (IQ ≥85) who were blinded to the aim of the study were assigned to receive either 10 weeks of a dance/movement intervention focusing on interpersonal movement imitation and synchronization (SI-DMI, n = 27) or a control movement intervention (CMI, n = 24) focusing on individual motor coordination (2 participants from each group declined before baseline testing). The primary outcome measure was the objective Multifaceted Empathy Test targeting emotion inference and empathic feelings. Secondary outcomes were scores on the self-rated Interpersonal Reactivity Index. The well-established automatic imitation task and synchronization finger-tapping task were used to quantify effects on imitation and synchronization functions, complemented by the more naturalistic Assessment of Spontaneous Interaction in Movement. Intention-to-treat analyses revealed that from baseline to 3 months, patients treated with SI-DMI showed a significantly larger improvement in emotion inference (d = 0.58), but not empathic feelings, than those treated with CMI (d = -0.04). On the close generalization level, SI-DMI increased synchronization skills and imitation tendencies, as well as whole-body imitation/synchronization and movement reciprocity/dialogue, compared to CMI. SI-DMI can be successful in promoting emotion inference in adults with ASD and warrants further investigation. © 2015 S. Karger AG, Basel.

  13. Burke-Fahn-Marsden dystonia severity, Gross Motor, Manual Ability, and Communication Function Classification scales in childhood hyperkinetic movement disorders including cerebral palsy: a 'Rosetta Stone' study.

    Science.gov (United States)

    Elze, Markus C; Gimeno, Hortensia; Tustin, Kylee; Baker, Lesley; Lumsden, Daniel E; Hutton, Jane L; Lin, Jean-Pierre S-M

    2016-02-01

    Hyperkinetic movement disorders (HMDs) can be assessed using impairment-based scales or functional classifications. The Burke-Fahn-Marsden Dystonia Rating Scale-movement (BFM-M) evaluates dystonia impairment, but may not reflect functional ability. The Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS) are widely used in the literature on cerebral palsy to classify functional ability, but not in childhood movement disorders. We explore the concordance of these three functional scales in a large sample of paediatric HMDs and the impact of dystonia severity on these scales. Children with HMDs (n=161; median age 10y 3mo, range 2y 6mo-21y) were assessed using the BFM-M, GMFCS, MACS, and CFCS from 2007 to 2013. This cross-sectional study contrasts the information provided by these scales. All four scales were strongly associated (all Spearman's rank correlation coefficient rs >0.72, pdisorders including cerebral palsy can be effectively evaluated using these scales. © 2015 Mac Keith Press.

  14. The risk of musculoskeletal disorders due to repetitive movements of upper limbs for workers employed in hazelnut sorting

    OpenAIRE

    Andrea Colantoni; Massimo Cecchini; Danilo Monarca; Roberto Bedini; Simone Riccioni

    2013-01-01

    In the agro-industrial sector there are many activities whose urgent rhythms can cause a considerable exposure to bio-mechanical risk factors. In the hazelnut sorting, the workers are subject to several biomechanical risks, with repetitive movements, and operations that require a remarkable degree of strength. A thorough study of the workers’ exposure to repetitive manual movements has been carried out, with the aim of setting up the necessary measures to reduce the risk factors. The aim of t...

  15. Risk factors for sporadic ovarian cancer

    Directory of Open Access Journals (Sweden)

    M. M. Vysotsky

    2010-01-01

    Full Text Available The review of the literature on the problems of sporadic ovarian cancer details the present views of its disputable risk factors, such as dietary habits, body weight, contraception, and labor, and age of commencing a sexual activity. It discusses the dietary and sexual behavior model that has changed since the Neolithic, as well as the number of menses and ovulations throughout the reproductive peri- od. The works by authors dealing with the impact of smoking and alcohol consumption on the risk of ovarian cancer are analyzed.

  16. Altered brain functions in HIV positive patients free of HIV- associated neurocognitive disorders: A MRI study during unilateral hand movements

    Directory of Open Access Journals (Sweden)

    Jing Zhao

    2015-03-01

    Full Text Available This paper aimed to investigate the brain activity of human immunodeficiency virus (HIV positive patients with normal cognition during unilateral hand movement and whether highly active antiretroviral therapy (HAART could affect the brain function. Functional magnetic resonance imaging (fMRI was performed for 60 HIV positive (HIV+ subjects and −42 healthy age-matched right-handed control subjects. Each subject was evaluated by the neuropsychological test and examined with fMRI during left and right hand movement tasks. HIV+ subjects showed greater activation in anterior cingulum, precuneus, occipital lobes, ipsilateral postcentral gyrus and contralateral cerebellum compared with control group during right hand movement task. However, during left hand movement no statistically significant difference was detected between these two groups. HAART medication for HIV+ subjects lowered the increased activity to normal level. Meanwhile patients receiving the regimen of zidovudine, lamivudine and efavirenz showed lower activity at bilateral caudate and ipsilateral inferior frontal gyrus in comparison with subjects receiving other HAART regimens. Therefore, HIV+ subjects demonstrated brain asymmetry in motor cortex, with increased activity present during right hand movement but absent during left hand movement. HAART proves effective in HIV+ subjects even with normal cognition and the specific regimen of HAART could prevent cerebral abnormal functions. Meanwhile, this study validates that during motor tasks, fMRI can detect the brain signal changes prior to the occurrences of other HIV- associated dysfunctions.

  17. [The influence of non-invasive electrical stimulation of the spinal cord on the locomotor function of patients presenting with movement disorders of central genesis].

    Science.gov (United States)

    Balykin, M V; Yakupov, R N; Mashin, V V; Kotova, E Yu; Balykin, Yu M; Gerasimenko, Yu P

    The objective of the present study was to evaluate the influence of non-invasive (transcutaneous) electrical spinal cord stimulation on the locomotor function of the patients suffering from movement disorders. The study involved 10 patients of both sexes at the age from 32 to 70 years (including 40% of men and 60% of women) presenting with the compromised locomotor function of varying severity associated with the disturbances of cerebral blood circulation caused either by an injury to the brain and spinal cord or by stroke. The transcutaneous electrical spinal cord stimulation was applied using different frequency regimes with the placement of the electrodes in the projection onto the region of TXI-TXII vertebrae. The active factors were bipolar electrical stimuli 0.5 ms in duration; the current strength was chosen for each patient on an individual basis taking into consideration its threshold level. Electromyograms and evoked motor responses of selected muscles, viz. m. rectus femoris, m.biceps femoris, m. tibialis anterior, and m.gastrocnemius were recorded with the use of the 'Neuro-MVP-8 eight-channel electromyography' ('Neurosoft', Russia). The data obtained give evidence that the stimulation of the spinal cord with a frequency of 1 Hz induces reflectory responses with monosynaptic and polysynaptic components in the muscles of the lower extremities, with the thresholds of these responses being significantly higher in the patients presenting with serious neurological problems. Stimulation with the frequencies of 5 and 30 Hz caused in the patients with paresis the involuntary movement of the legs the characteristics of which were similar to those of the locomotor movements. It has been demonstrated that the application of transcutaneous electrical spinal cord stimulation leads to increased excitability of the lumbar spinal neural structures of the patients. The study has shown the possibility of regulation of the locomotor functions in the patients presenting

  18. Early Detection of Sporadic Pancreatic Cancer

    Science.gov (United States)

    Kenner, Barbara J.; Chari, Suresh T.; Cleeter, Deborah F.; Go, Vay Liang W.

    2015-01-01

    Abstract Innovation leading to significant advances in research and subsequent translation to clinical practice is urgently necessary in early detection of sporadic pancreatic cancer. Addressing this need, the Early Detection of Sporadic Pancreatic Cancer Summit Conference was conducted by Kenner Family Research Fund in conjunction with the 2014 American Pancreatic Association and Japan Pancreas Society Meeting. International interdisciplinary scientific representatives engaged in strategic facilitated conversations based on distinct areas of inquiry: Case for Early Detection: Definitions, Detection, Survival, and Challenges; Biomarkers for Early Detection; Imaging; and Collaborative Studies. Ideas generated from the summit have led to the development of a Strategic Map for Innovation built upon 3 components: formation of an international collaborative effort, design of an actionable strategic plan, and implementation of operational standards, research priorities, and first-phase initiatives. Through invested and committed efforts of leading researchers and institutions, philanthropic partners, government agencies, and supportive business entities, this endeavor will change the future of the field and consequently the survival rate of those diagnosed with pancreatic cancer. PMID:25938853

  19. Tumour suppressor genes in sporadic epithelial ovarian cancer

    DEFF Research Database (Denmark)

    Liu, Ying; Ganesan, Trivadi S

    2002-01-01

    Ovarian cancer is the most frequent cause of death from gynaecological malignancies in the western world, and sporadic epithelial ovarian cancer is its most predominant form. The aetiology of sporadic ovarian cancer remains unknown. Genetic studies have enabled a better understanding...... of the evolution of tumour progression. A major focus of research has been to identify tumour suppressor genes implicated in sporadic ovarian cancer over the past decade. Several tumour suppressor genes have been identified by strategies such as positional cloning and differential expression display. Further...... research is warranted to understand fully their contribution to the pathogenesis of sporadic ovarian cancer....

  20. Scientific resistance to research, training and utilization of eye movement desensitization and reprocessing (EMDR) therapy in treating post-war disorders.

    Science.gov (United States)

    Russell, Mark C

    2008-12-01

    In this study, Barber's [(1961). Resistance by scientists to scientific discovery. Science, 134, 596-602] analysis of scientists' resistance to discoveries is examined in relation to an 18-year controversy between the dominant cognitive-behavioral paradigm or zeitgeist and its chief rival - eye movement desensitization and reprocessing (EMDR) in treating trauma-related disorders. Reasons for persistent opposition to training, utilization and research into an identified 'evidence-based treatment for post-traumatic stress disorder' (EBT-PTSD) within US military and veterans' agencies closely parallels Barber's description of resistance based upon socio-cultural factors and scientific bias versus genuine scientific skepticism. The implications of sustained resistance to EMDR for combat veterans and other trauma sufferers are discussed. A unified or super-ordinate goal is offered to reverse negative trends impacting current and future mental healthcare of military personnel, veterans and other trauma survivors, and to bridge the scientific impasse.

  1. Wilson?s disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment

    Directory of Open Access Journals (Sweden)

    Gotthard G. Tribl

    2014-09-01

    Full Text Available Objective To describe characteristics of REM sleep behavior disorder in Wilson’s disease. Method Questionnaire-based interviews (patients and relatives, neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Results Four Wilson’s disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. Conclusion This first description of REM sleep behavior disorder in Wilson’s disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson’s disease and adds further evidence to the parallelism of Parkinson’s disease and Wilson’s disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson’s disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson’s disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome, previewing the possibility of neuroprotective treatment for REM sleep behavior disorder in “pre-clinical” Parkinson’s disease.

  2. A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study.

    Science.gov (United States)

    Sabater, Lidia; Gaig, Carles; Gelpi, Ellen; Bataller, Luis; Lewerenz, Jan; Torres-Vega, Estefanía; Contreras, Angeles; Giometto, Bruno; Compta, Yaroslau; Embid, Cristina; Vilaseca, Isabel; Iranzo, Alex; Santamaría, Joan; Dalmau, Josep; Graus, Francesc

    2014-06-01

    Autoimmunity might be associated with or implicated in sleep and neurodegenerative disorders. We aimed to describe the features of a novel neurological syndrome associated with prominent sleep dysfunction and antibodies to a neuronal antigen. In this observational study, we used clinical and video polysomnography to identify a novel sleep disorder in three patients referred to the Sleep Unit of Hospital Clinic, University of Barcelona, Spain, for abnormal sleep behaviours and obstructive sleep apnoea. These patients had antibodies against a neuronal surface antigen, which were also present in five additional patients referred to our laboratory for antibody studies. These five patients had been assessed with polysomnography, which was done in our sleep unit in one patient and the recording reviewed in a second patient. Two patients underwent post-mortem brain examination. Immunoprecipitation and mass spectrometry were used to characterise the antigen and develop an assay for antibody testing. Serum or CSF from 298 patients with neurodegenerative, sleep, or autoimmune disorders served as control samples. All eight patients (five women; median age at disease onset 59 years [range 52-76]) had abnormal sleep movements and behaviours and obstructive sleep apnoea, as confirmed by polysomnography. Six patients had chronic progression with a median duration from symptom onset to death or last visit of 5 years (range 2-12); in four the sleep disorder was the initial and most prominent feature, and in two it was preceded by gait instability followed by dysarthria, dysphagia, ataxia, or chorea. Two patients had a rapid progression with disequilibrium, dysarthria, dysphagia, and central hypoventilation, and died 2 months and 6 months, respectively, after symptom onset. In five of five patients, video polysomnography showed features of obstructive sleep apnoea, stridor, and abnormal sleep architecture (undifferentiated non-rapid-eye-movement [non-REM] sleep or poorly structured

  3. Three-Dimensional Kinematic Analysis of Prehension Movements in Young Children with Autism Spectrum Disorder: New Insights on Motor Impairment

    Science.gov (United States)

    Campione, Giovanna Cristina; Piazza, Caterina; Villa, Laura; Molteni, Massimo

    2016-01-01

    The study was aimed at better clarifying whether action execution impairment in autism depends mainly on disruptions either in feedforward mechanisms or in feedback-based control processes supporting motor execution. To this purpose, we analyzed prehension movement kinematics in 4- and 5-year-old children with autism and in peers with typical…

  4. Prion diseases and sleep disorders

    Directory of Open Access Journals (Sweden)

    ZHAN Shu-qin

    2013-06-01

    Full Text Available Prion diseases (PrD are a group of encephalopathies with neurodegenerative changes caused by prion protein (PrP whose characteristic datum is transmissibility. In most cases they occur in a sporadic form although a group of them are familial associated with mutations in PrP gene. Phenotypicvariability of fatal familial insomnia (FFI versus familial Creutzfeldt-Jakob disease178 (fCJD178 seems to determine the different methionine-valine polymorphism at codon 129 of the PrP gene. Sleep disorders is one of the important clinical features for the diagnosis and definition of PrD. FFI, a hereditary disorder characterized by loss of physiological sleep with oneiric stupor, autonomic and motor hyperactivity. The polysomnography (PSG shows disappearance of the physiological pattern of non-rapid eye movement (NREM and rapid eye movement (REM sleep, as well as sleep spindles and K-complexes were absent. The hypothesis of the origin of these disorders is thalamic neuronal loss, especially in the anterior and dorsomedial nuclei, described in the neuropathology of these patients; besides, PET reveals hypofunction of thalamic nuclei, centres responsible for controlling wake-sleep. In CJD the wake-sleep disorders is not considered characteristic; nonetheless, frequent alterations have been found in the electroencephalographic registers of sleep. Besides thalamic neurodegeneration, there could be common etiopathogenic mechanisms in PrD in relation to the biological function of PrP.

  5. MRI of sporadic Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    Kong, A.; Vliet, A. Van der.

    2008-01-01

    Full text: The key MRI findings in five cases of sporadic Creutzfeldt-Jakob disease (CJD) are illustrated with four 'definite' and one 'probable' according to World Health Organization criteria. Close attention to fluid-attenuation inversion recovery and diffusion-weighted imaging sequences are important for diagnosis, noting especially restricted diffusion in cortical and deep grey matter. Our study and those of others show predominant cortical, caudate and thalamic involvement. This pattern is highly sensitive and specific for the diagnosis. Fluid-attenuation inversion recovery and diffusion-weighted imaging signal abnormality becomes progressively more extensive and bilateral as disease progresses, but may become less pronounced in end-stage disease because of atrophy.

  6. A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.

    Directory of Open Access Journals (Sweden)

    Nasrine Bendjilali

    Full Text Available Brain arteriovenous malformations (BAVM are clusters of abnormal blood vessels, with shunting of blood from the arterial to venous circulation and a high risk of rupture and intracranial hemorrhage. Most BAVMs are sporadic, but also occur in patients with Hereditary Hemorrhagic Telangiectasia, a Mendelian disorder caused by mutations in genes in the transforming growth factor beta (TGFβ signaling pathway.To investigate whether copy number variations (CNVs contribute to risk of sporadic BAVM, we performed a genome-wide association study in 371 sporadic BAVM cases and 563 healthy controls, all Caucasian. Cases and controls were genotyped using the Affymetrix 6.0 array. CNVs were called using the PennCNV and Birdsuite algorithms and analyzed via segment-based and gene-based approaches. Common and rare CNVs were evaluated for association with BAVM.A CNV region on 1p36.13, containing the neuroblastoma breakpoint family, member 1 gene (NBPF1, was significantly enriched with duplications in BAVM cases compared to controls (P = 2.2×10(-9; NBPF1 was also significantly associated with BAVM in gene-based analysis using both PennCNV and Birdsuite. We experimentally validated the 1p36.13 duplication; however, the association did not replicate in an independent cohort of 184 sporadic BAVM cases and 182 controls (OR = 0.81, P = 0.8. Rare CNV analysis did not identify genes significantly associated with BAVM.We did not identify common CNVs associated with sporadic BAVM that replicated in an independent cohort. Replication in larger cohorts is required to elucidate the possible role of common or rare CNVs in BAVM pathogenesis.

  7. “We Dance and Find Each Other”1: Effects of Dance/Movement Therapy on Negative Symptoms in Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Malin K. Hildebrandt

    2016-11-01

    Full Text Available The treatment of deficits in social interaction, a shared symptom cluster in persons with schizophrenia (negative symptoms and autism spectrum disorder (DSM-5 A-criterion, has so far remained widely unsuccessful in common approaches of psychotherapy. The alternative approach of embodiment brings to focus body-oriented intervention methods based on a theoretic framework that explains the disorders on a more basic level than common theory of mind approaches. The randomized controlled trial at hand investigated the effects of a 10-week manualized dance and movement therapy intervention on negative symptoms in participants with autism spectrum disorder. Although the observed effects failed to reach significance at the conventional 0.05 threshold, possibly due to an undersized sample, an encouraging trend towards stronger symptom reduction in the treatment group for overall negative symptoms and for almost all subtypes was found at the 0.10-level. Effect sizes were small but clinically meaningful, and the resulting patterns were in accordance with theoretical expectations. The study at hand contributes to finding an effective treatment approach for autism spectrum disorder in accordance with the notion of embodiment.

  8. [Obsessive-compulsive symptoms, tics, stereotypic movements or need for absolute consistency? The occurrence of repetitive activities in patients with pervasive developmental disorders--case studies].

    Science.gov (United States)

    Bryńska, Anita; Lipińska, Elzbieta; Matelska, Monika

    2011-01-01

    Repetitive and stereotyped behaviours in the form of stereotyped interests or specific routine activities are one ofthe diagnostic criteria in pervasive developmental disorders. The occurrence of repetitive behaviours in patients with pervasive developmental disorders is a starting point for questions about the type and classification criteria of such behaviours. The aim of the article is to present case studies of patients with pervasive developmental disorders and co-morbid symptoms in the form of routine activities, tics, obsessive-compulsive symptoms or stereotyped behaviours. The first case study describes a patient with Asperger's syndrome and obsessive compulsive symptoms. The diagnostic problems regarding complex motor tics are discussed in the second case study which describes a patient with Asperger's syndrome and Gilles de la Tourette syndrome. The third and fourth case study describes mono-zygotic twins with so called High Functioning Autism whose repetitive activities point to either obsessive compulsive symptoms, stereotypic movements, need for absolute consistency or echopraxia. The possible comorbidity of pervasive developmental disorders and symptoms in the form of repetitive behaviours, possible interactions as well as diagnostic challenges is discussed in the article.

  9. A film of patients with movement disorders made in Queen Square, London in the Mid-1920s by Samuel Alexander Kinnier Wilson.

    Science.gov (United States)

    Reynolds, E H; Healy, D G; Lees, A J

    2011-12-01

    Through Edward Reynolds' collaboration with Samuel Alexander Kinnier Wilson's (SAKW) son, James, on Babylonian neurology and psychiatry, and his contact with James' nephew, Jim, grandson of SAKW, a remarkable film of patients with movement disorders, made by SAKW in the mid-1920s, has come to light. The 20-min silent film with captions by SAKW includes patients with senile tremor, Parkinson's disease and postencephalitic parkinsonism, hemiballismus, Huntington's chorea, Sydenham's chorea, hysterical palsy and tremor, multiple sclerosis, and progressive lenticular degeneration. Most of the patients are filmed in the square outside the National Hospital. The British Film Institute dates the film to 1924 and the captions to 1925. The case records of 6 of the 14 patients, who were admitted to the National Hospital, Queen Square, under the care of Dr. SAKW have been identified and summarized. SAKW may have been stimulated and facilitated to make this film through his personal contact with Charlie Chaplin with whom he stayed at his Californian estate, probably in the summer of 1924. The first films of neurological patients were made in Europe and USA at the beginning of the 20th century, although most have perished. This may be one of the oldest examples from UK. It is also notable for the inclusion of Wilson's disease and a brief shot of SAKW himself. Copyright © 2011 Movement Disorder Society.

  10. Botulinum toxin therapy for treatment of spasticity in multiple sclerosis: review and recommendations of the IAB-Interdisciplinary Working Group for Movement Disorders task force.

    Science.gov (United States)

    Dressler, Dirk; Bhidayasiri, Roongroj; Bohlega, Saeed; Chahidi, Abderrahmane; Chung, Tae Mo; Ebke, Markus; Jacinto, L Jorge; Kaji, Ryuji; Koçer, Serdar; Kanovsky, Petr; Micheli, Federico; Orlova, Olga; Paus, Sebastian; Pirtosek, Zvezdan; Relja, Maja; Rosales, Raymond L; Sagástegui-Rodríguez, José Alberto; Schoenle, Paul W; Shahidi, Gholam Ali; Timerbaeva, Sofia; Walter, Uwe; Saberi, Fereshte Adib

    2017-01-01

    Botulinum toxin (BT) therapy is an established treatment of spasticity due to stroke. For multiple sclerosis (MS) spasticity this is not the case. IAB-Interdisciplinary Working Group for Movement Disorders formed a task force to explore the use of BT therapy for treatment of MS spasticity. A formalised PubMed literature search produced 55 publications (3 randomised controlled trials, 3 interventional studies, 11 observational studies, 2 case studies, 35 reviews, 1 guideline) all unanimously favouring the use of BT therapy for MS spasticity. There is no reason to believe that BT should be less effective and safe in MS spasticity than it is in stroke spasticity. Recommendations include an update of the current prevalence of MS spasticity and its clinical features according to classifications used in movement disorders. Immunological data on MS patients already treated should be analysed with respect to frequencies of MS relapses and BT antibody formation. Registration authorities should expand registration of BT therapy for spasticity regardless of its aetiology. MS specialists should consider BT therapy for symptomatic treatment of spasticity.

  11. Dietary factors and microsatellite instability in sporadic colon carcinomas

    NARCIS (Netherlands)

    Diergaarde, B.; Braam, H.; Muijen, van G.N.P.; Ligtenberg, M.J.L.; Kok, F.J.; Kampman, E.

    2003-01-01

    Microsatellite instability (MSI) occurs in 10-20% of the sporadic colon carcinomas and appears to be primarily due to alterations in hMLH1 and hMSH2. Little is known about the role of diet in MSI-related colon carcinogenesis. We used data from a Dutch population-based case-control study on sporadic

  12. Cognitive disorders after sporadic ecstasy use? A case report

    NARCIS (Netherlands)

    Ruis, Carla; Postma, Albert; Bouvy, Willem; van der Ham, Ineke

    2015-01-01

    Memory problems and changes in hippocampal structures after chronic ecstasy use are well described in the literature. Cognitive problems after incidental ecstasy use are rare, and the few patients described in case reports returned to their normal cognitive level after a relative short period. FV is

  13. Comparison Study of Polysomnographic Features in Multiple System Atrophy-cerebellar Types Combined with and without Rapid Eye Movement Sleep Behavior Disorder.

    Science.gov (United States)

    Ding, Yan; Hu, Yue-Qing; Zhan, Shu-Qin; Li, Cun-Jiang; Wang, Hong-Xing; Wang, Yu-Ping

    2016-09-20

    The brain stem is found to be impaired in multiple system atrophy-cerebellar types (MSA-C). Rapid eye movement (REM) sleep behavior disorder (RBD) is reported as a marker of progressive brain stem dysfunction. Few systematic studies about the sleep disturbances in MSA-C patients combined with or without RBD were reported. This study aimed to explore the polysomnographic (PSG) features of sleep disturbances between MSA-C patients with and without RBD. Totally, 46 MSA-C patients (23 with RBD, and 23 without RBD) were enrolled in this study. All patients underwent a structured interview for their demographic data, history of sleep pattern, and movement disorders; and then, overnight video-PSG was performed in each patient. All the records were evaluated by specialists at the Sleep Medicine Clinic for RBD and the Movement Disorder Clinic for MSA-C. The Student's t-test, Mann-Whitney U-test for continuous variables, and the Chi-square test for categorical variables were used in this study. MSA-C patients with RBD had younger visiting age (52.6 ± 7.4 vs. 56.7 ± 6.0 years, P = 0.046) and shorter duration of the disease (12.0 [12.0, 24.0] vs. 24.0 [14.0, 36.0] months, P = 0.009) than MSA-C patients without RBD. MSA-C with RBD had shorter REM sleep latency (111.7 ± 48.2 vs. 157.0 ± 68.8 min, P = 0.042), higher percentage of REM sleep (14.9% ±4.0% vs. 10.0% ± 3.2%, P = 0.019), and lower Stage I (9.5% ±7.2% vs. 15.9% ±8.0%, P = 0.027) than MSA-C without RBD. Moreover, MSA-C patients with RBD had more decreased sleep efficiency (52.4% ±12.6% vs. 65.8% ±15.9%, P = 0.029) than that without RBD. In addition to the RBD, MSA-C patients with RBD had other more severe sleep disturbances than those without RBD. The sleep disorders of MSA patients might be associated with the progress of the disease.

  14. Developmental Trajectories of Hand Movements in Typical Infants and Those at Risk of Developmental Disorders: An Observational Study of Kinematics during the First Year of Life

    Directory of Open Access Journals (Sweden)

    Lisa Ouss

    2018-02-01

    are significantly associated with age in cohorts of typical and at-risk infantsdiffer significantly at 5–6 months of age, depending on the context: relating either with an object or a person.Environmental and developmental factors shape the developmental trajectories of hand movements in different cohorts: environment for infants with VIMs; stage of development for premature infants and those with West syndrome; and both factors for infants with orality disorders.The curvature of hand movements specifically reflects atypical development in infants with West syndrome when developmental age is considered.We aimed to discriminate between typical and atypical developmental trajectory patterns of at-risk infants in an interactive setting in this observational and longitudinal study, with the assumption that hand movements (HM reflect preverbal communication and its disorders. We examined the developmental trajectories of HM in five cohorts of at-risk infants and one control cohort, followed from ages 2 to 10 months: 25 West syndrome (WS, 13 preterm birth (PB, 16 orality disorder (OD, 14 with visually impaired mothers (VIM, 7 early hospitalization (EH, and 19 typically developing infants (TD. Video-recorded data were collected in three different structured interactive contexts. Descriptors of the hand motion were used to examine the extent to which HM were associated with age and cohort. We obtained four principal results: (i the kinematics of HM (spatial use, curvature, acceleration, and velocity were significantly associated with age in all cohorts; (ii HM significantly differed at 5–6 months of age in TD infants, depending on the context; (iii environmental and developmental factors shaped the developmental trajectories of HM in different cohorts: environment for VIM, development for PB and WS, and both factors for OD and; (iv the curvatures of HM showed atypical development in WS infants when developmental age was considered. These findings support the importance

  15. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients

    Directory of Open Access Journals (Sweden)

    Hanae Takatsuki, PhD

    2016-10-01

    Full Text Available Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 106/g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 106/g SD50 did not exist the infectivity.

  16. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients.

    Science.gov (United States)

    Takatsuki, Hanae; Fuse, Takayuki; Nakagaki, Takehiro; Mori, Tsuyoshi; Mihara, Ban; Takao, Masaki; Iwasaki, Yasushi; Yoshida, Mari; Murayama, Shigeo; Atarashi, Ryuichiro; Nishida, Noriyuki; Satoh, Katsuya

    2016-10-01

    Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 10 6 /g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 10 6 /g SD50 did not exist the infectivity. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  17. Disconjugate eye movements.

    Science.gov (United States)

    Straumann, Dominik

    2007-01-01

    To foveate targets in different depths, the movements of the two eyes must be disconjugate. Fine measurements of eye rotations about the three principal axes have demonstrated that disconjugate eye movements may appear not only in the horizontal, but also in the vertical and torsional directions. In the presence of visual targets, disconjugate eye movements are driven by the vergence system, but they may also appear during vestibular stimulation. Disconjugate eye movements are highly adaptable by visual disparities, but under normal condition the effects of adaptation only persist when one eye is covered. Finally, disorders of the brainstem and cerebellum may lead to abnormal disconjugate eye movements that are often specific for the topography of the lesion. This chapter reviews the literature on the phenomenology of disconjugate eye movements over the last 15 years.

  18. Inhibition in Parkinson’s disease: A focus on prepulse inhibition and Rapid eye movement sleep Behavior Disorder (RBD)

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle

    2014-01-01

    Summary Background: α-synucleinopathies are characterized by degeneration of the nigrostriatal pathway and midbrain dopamine function. These disorders, including Parkinson’s disease (PD), are associated with sensorimotor gating deficits and show an increased prevalence of the parasomnia REM sleep...... with daytime motor function in Parkinsonism, the relation to the increased motor activity during REM sleep as seen in RBD is unclear. Aim: The objective of this thesis was 1) to examine prepulse inhibition of the acoustic blink reflex in patients with idiopathic REM sleep behaviour disorder (iRBD), Parkinson...... behaviour disorder (RBD). Converging evidence supports a key role of the central dopamine system and striatum in the regulation of prepulse inhibition (PPI), a measure of sensorimotor gating, which has received little attention with regard to Parkinsonism. Although the dopamine system is associated...

  19. Sporadic aurorae observed in East Asia

    Directory of Open Access Journals (Sweden)

    D. M. Willis

    2007-03-01

    Full Text Available All the accessible auroral observations recorded in Chinese and Japanese histories during the interval AD 1840–1911 are investigated in detail. Most of these auroral records have never been translated into a Western language before. The East Asian auroral reports provide information on the date and approximate location of each auroral observation, together with limited scientific information on the characteristics of the auroral luminosity such as colour, duration, extent, position in the sky and approximate time of occurrence. The full translations of the original Chinese and Japanese auroral records are presented in an appendix, which contains bibliographic details of the various historical sources. (There are no known reliable Korean observations during this interval. A second appendix discusses a few implausible "auroral" records, which have been rejected. The salient scientific properties of all exactly dated and reliable East Asian auroral observations in the interval AD 1840–1911 are summarised succinctly. By comparing the relevant scientific information on exactly dated auroral observations with the lists of great geomagnetic storms compiled by the Royal Greenwich Observatory, and also the tabulated values of the Ak (Helsinki and aa (Greenwich and Melbourne magnetic indices, it is found that 5 of the great geomagnetic storms (aa>150 or Ak>50 during either the second half of the nineteenth century or the first decade of the twentieth century are clearly identified by extensive auroral displays observed in China or Japan. Indeed, two of these great storms produced auroral displays observed in both countries on the same night. Conversely, at least 29 (69% of the 42 Chinese and Japanese auroral observations occurred at times of weak-to-moderate geomagnetic activity (aa or Ak≤50. It is shown that these latter auroral displays are very similar to the more numerous (about 50 examples of sporadic aurorae observed in the United States

  20. Sporadic aurorae observed in East Asia

    Directory of Open Access Journals (Sweden)

    D. M. Willis

    2007-03-01

    Full Text Available All the accessible auroral observations recorded in Chinese and Japanese histories during the interval AD 1840–1911 are investigated in detail. Most of these auroral records have never been translated into a Western language before. The East Asian auroral reports provide information on the date and approximate location of each auroral observation, together with limited scientific information on the characteristics of the auroral luminosity such as colour, duration, extent, position in the sky and approximate time of occurrence. The full translations of the original Chinese and Japanese auroral records are presented in an appendix, which contains bibliographic details of the various historical sources. (There are no known reliable Korean observations during this interval. A second appendix discusses a few implausible "auroral" records, which have been rejected. The salient scientific properties of all exactly dated and reliable East Asian auroral observations in the interval AD 1840–1911 are summarised succinctly. By comparing the relevant scientific information on exactly dated auroral observations with the lists of great geomagnetic storms compiled by the Royal Greenwich Observatory, and also the tabulated values of the Ak (Helsinki and aa (Greenwich and Melbourne magnetic indices, it is found that 5 of the great geomagnetic storms (aa>150 or Ak>50 during either the second half of the nineteenth century or the first decade of the twentieth century are clearly identified by extensive auroral displays observed in China or Japan. Indeed, two of these great storms produced auroral displays observed in both countries on the same night. Conversely, at least 29 (69% of the 42 Chinese and Japanese auroral observations occurred at times of weak-to-moderate geomagnetic activity (aa or Ak≤50. It is shown that these latter auroral displays are very similar to the more numerous (about 50 examples of sporadic

  1. 4. Disorder

    African Journals Online (AJOL)

    dyskinesia, movement disorders in sleep stiff-man syndrome. Ballism means 'to throw'. Ballism consists of throwing or flinging movements of the limbs that are usually high in amplitude and velocity and involve proximal more than distal muscles. Ballistic movements are large proximal rotatory throwing or kicking movements.

  2. Effectiveness of Eye Movement Desensitization and Reprocessing in German Armed Forces Soldiers With Post-Traumatic Stress Disorder Under Routine Inpatient Care Conditions.

    Science.gov (United States)

    Köhler, Kai; Eggert, Patrick; Lorenz, Sebastian; Herr, Kerstin; Willmund, Gerd; Zimmermann, Peter; Alliger-Horn, Christina

    2017-05-01

    Post-traumatic stress disorder (PTSD) is one of the more commonly occurring mental disorders following potentially traumatizing events soldiers may encounter when deployed abroad. One of the first-line recommended treatment options is eye movement desensitization and reprocessing (EMDR). The number of studies assessing the effectiveness of EMDR in German soldiers under routine conditions is currently almost nil. A retrospective, quasi-experimental effectiveness study on EMDR in an inpatient setting is presented using a prepost design. The study compares symptom reduction in soldiers (N = 78) with a wait-list (N = 18). Effect sizes of EMDR were measured for PTSD, symptoms of depression, and general mental health. Effect size for EMDR treatment of PTSD was d = 0.77; 95% confidence interval (CI): 0.51 to 1.36, for symptoms of depression d = 0.99; 95% CI: 0.31 to 1.36, and for general psychiatric symptoms d = 0.53; 95% CI: 0.17 to 1.21. The effects resulting from EMDR treatment were somewhat weaker than those reported in comparable studies in civilians. EMDR therapy is an effective treatment to reduce symptoms of PTSD and depression. However, in the military context it needs to be complemented by treatment options that specifically address further conditions perpetuating the disorders. Reprint & Copyright © 2017 Association of Military Surgeons of the U.S.

  3. Postural reconfiguration and cycle-to-cycle variability in patients with work-related musculoskeletal disorders compared to healthy controls and in relation to pain emerging during a repetitive movement task.

    Science.gov (United States)

    Longo, Alessia; Meulenbroek, Ruud; Haid, Thomas; Federolf, Peter

    2018-05-01

    Movement variability in sustained repetitive tasks is an important factor in the context of work-related musculoskeletal disorders. While a popular hypothesis suggests that movement variability can prevent overuse injuries, pain evolving during task execution may also cause variability. The aim of the current study was to investigate, first, differences in movement behavior between volunteers with and without work-related pain and, second, the influence of emerging pain on movement variability. Upper-body 3D kinematics were collected as 22 subjects with musculoskeletal disorders and 19 healthy volunteers performed a bimanual repetitive tapping task with a self-chosen and a given rhythm. Three subgroups were formed within the patient group according to the level of pain the participants experienced during the task. Principal component analysis was applied to 30 joint angle coordinates to characterize in a combined analysis the movement variability associated with reconfigurations of the volunteers' postures and the cycle-to-cycle variability that occurred during the execution of the task. Patients with no task-related pain showed lower cycle-to-cycle variability compared to healthy controls. Findings also indicated an increase in movement variability as pain emerged, manifesting both as frequent postural changes and large cycle-to-cycle variability. The findings suggested a relationship between work-related musculoskeletal disorders and movement variability but further investigation is needed on this issue. Additionally, the findings provided clear evidence that pain increased motor variability. Postural reconfigurations and cycle-to-cycle variability should be considered jointly when investigating movement variability and musculoskeletal disorders. Copyright © 2018 Elsevier Ltd. All rights reserved.

  4. Oral and Hand Movement Speeds Are Associated with Expressive Language Ability in Children with Speech Sound Disorder

    Science.gov (United States)

    Peter, Beate

    2012-01-01

    This study tested the hypothesis that children with speech sound disorder have generalized slowed motor speeds. It evaluated associations among oral and hand motor speeds and measures of speech (articulation and phonology) and language (receptive vocabulary, sentence comprehension, sentence imitation), in 11 children with moderate to severe SSD…

  5. A controlled comparison of the effectiveness and efficiency of two psychological therapies for posttraumatic stress disorder: eye movement desensitization and reprocessing vs. emotional freedom techniques.

    Science.gov (United States)

    Karatzias, Thanos; Power, Kevin; Brown, Keith; McGoldrick, Theresa; Begum, Millia; Young, Jenny; Loughran, Paul; Chouliara, Zoë; Adams, Sally

    2011-06-01

    The present study reports on the first ever controlled comparison between eye movement desensitization and reprocessing (EMDR) and emotional freedom techniques (EFT) for posttraumatic stress disorder. A total of 46 participants were randomized to either EMDR (n = 23) or EFT (n = 23). The participants were assessed at baseline and then reassessed after an 8-week waiting period. Two further blind assessments were conducted at posttreatment and 3-months follow-up. Overall, the results indicated that both interventions produced significant therapeutic gains at posttreatment and follow-up in an equal number of sessions. Similar treatment effect sizes were observed in both treatment groups. Regarding clinical significant changes, a slightly higher proportion of patients in the EMDR group produced substantial clinical changes compared with the EFT group. Given the speculative nature of the theoretical basis of EFT, a dismantling study on the active ingredients of EFT should be subject to future research.

  6. Treatment of gay men for post-traumatic stress disorder resulting from social ostracism and ridicule: cognitive behavior therapy and eye movement desensitization and reprocessing approaches.

    Science.gov (United States)

    Carbone, Dominic J

    2008-04-01

    This report describes the clinical treatment of a sample of four gay men suffering from Post-Traumatic Stress Disorder (PTSD) attributed to their repeated experiences with peer ridicule and ostracism throughout childhood and adolescence, caused by their gender variant appearance and behavior. All of the men in the sample shared the following features: (1) a childhood history of ridicule and ostracism from both peers and adults focused on their gender variant presentation designed to elicit gender norm compliance; (2) a lack of social support networks to assist them in coping with the stress; (3) self-destructive coping responses that began in childhood and continued into adulthood in an attempt to lessen the experience of shame; and (4) symptoms of PTSD. A treatment model utilizing cognitive-behavioral therapy and eye movement desensitization and reprocessing was discussed.

  7. Congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Singh, Anupam; Pandey, P K; Agrawal, Ajai; Mittal, Sanjeev Kumar; Rana, Kartik Maheshbhai; Bahuguna, Chirag

    2017-12-01

    The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.

  8. Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.

    Science.gov (United States)

    Verma, Anshuman; Das, Manoranjan; Srinivasan, Muthiah; Prajna, Namperumalsamy V; Sundaresan, Periasamy

    2013-03-18

    The involvement of VSX1 gene for the genetic basis of keratoconus is unclear and controversial. The genetic screening of VSX1 from different ethnic populations can enlighten this subject. The aim of the present study is to investigate the role of VSX1 gene in patients with sporadic cases of keratoconus from South India. The VSX1 gene coding regions, including exon-intron boundaries were screened by direct sequencing analysis in 117 sporadic cases of keratoconus. The identified variations were also analyzed in 108 ethnic matched healthy blood donors. In the VSX1 gene screening, no pathogenic mutation was identified, whereas we could find the presence of four reported single nucleotide polymorphisms; c.546A>G (rs12480307), c.627+23G>A (rs6138482), c.627+84T>A (rs56157240) and c.504-24C>T (IVS3-24C). These variations were observed in similar frequency between cases and controls. The lack of VSX1 pathogenic variations in a large number of unrelated sporadic keratoconus patients tend to omit its role, and corroborate the involvement of other genetic, environmental or behavioural factors in the development of this complex disorder.

  9. The evolving genetic risk for sporadic ALS.

    Science.gov (United States)

    Gibson, Summer B; Downie, Jonathan M; Tsetsou, Spyridoula; Feusier, Julie E; Figueroa, Karla P; Bromberg, Mark B; Jorde, Lynn B; Pulst, Stefan M

    2017-07-18

    To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)-associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity. Whole exome sequencing and repeat expansion PCR of C9orf72 and ATXN2 were performed on 87 patients of European ancestry with SALS seen at the University of Utah. DNA variants that change the protein coding sequence of 31 ALS-associated genes were annotated to determine which were rare and deleterious as predicted by MetaSVM. The percentage of patients with SALS with a rare and deleterious variant or repeat expansion in an ALS-associated gene was calculated. An odds ratio analysis was performed comparing the burden of ALS-associated genes in patients with SALS vs 324 normal controls. Nineteen rare nonsynonymous variants in an ALS-associated gene, 2 of which were found in 2 different individuals, were identified in 21 patients with SALS. Further, 5 deleterious C9orf72 and 2 ATXN2 repeat expansions were identified. A total of 17.2% of patients with SALS had a rare and deleterious variant or repeat expansion in an ALS-associated gene. The genetic burden of ALS-associated genes in patients with SALS as predicted by MetaSVM was significantly higher than in normal controls. Previous analyses have identified SALS-predisposing variants only in terms of their rarity in normal control populations. By incorporating variant pathogenicity as well as variant frequency, we demonstrated that the genetic risk contributed by these genes for SALS is substantially lower than previous estimates. © 2017 American Academy of Neurology.

  10. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

    DEFF Research Database (Denmark)

    Halvarsson, Britta; Anderson, Harald; Domanska, Katarina

    2008-01-01

    Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers...

  11. Reducing Aircraft Down for Lack of Parts with Sporadic Demand

    National Research Council Canada - National Science Library

    Bachman, Tovey

    2004-01-01

    .... Because of their sporadic demand, it is difficult to decide when to buy these items and in what quantities. As systems become more reliable and failure rates decrease, the number of these infrequently demanded parts is likely to grow...

  12. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

    Science.gov (United States)

    Kallenberg, K.; Summers, D. M.; Romero, C.; Taratuto, A.; Heinemann, U.; Breithaupt, M.; Varges, D.; Meissner, B.; Ladogana, A.; Schuur, M.; Haik, S.; Collins, S. J.; Jansen, Gerard H.; Stokin, G. B.; Pimentel, J.; Hewer, E.; Collie, D.; Smith, P.; Roberts, H.; Brandel, J. P.; van Duijn, C.; Pocchiari, M.; Begue, C.; Cras, P.; Will, R. G.; Sanchez-Juan, P.

    2009-01-01

    Several molecular subtypes of sporadic Creutzfeldt–Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications have demonstrated a potentially important role for magnetic resonance imaging in the pre-mortem diagnosis of sporadic Creutzfeldt–Jakob disease. Magnetic resonance imaging signal alterations correlate with distinct sporadic Creutzfeldt–Jakob disease molecular subtypes and thus might contribute to the earlier identification of the whole spectrum of sporadic Creutzfeldt–Jakob disease cases. This multi-centre international study aimed to provide a rationale for the amendment of the clinical diagnostic criteria for sporadic Creutzfeldt–Jakob disease. Patients with sporadic Creutzfeldt–Jakob disease and fluid attenuated inversion recovery or diffusion-weight imaging were recruited from 12 countries. Patients referred as ‘suspected sporadic Creutzfeldt–Jakob disease’ but with an alternative diagnosis after thorough follow up, were analysed as controls. All magnetic resonance imaging scans were assessed for signal changes according to a standard protocol encompassing seven cortical regions, basal ganglia, thalamus and cerebellum. Magnetic resonance imaging scans were evaluated in 436 sporadic Creutzfeldt–Jakob disease patients and 141 controls. The pattern of high signal intensity with the best sensitivity and specificity in the differential diagnosis of sporadic Creutzfeldt–Jakob disease was identified. The optimum diagnostic accuracy in the differential diagnosis of rapid progressive dementia was obtained when either at least two cortical regions (temporal, parietal or occipital) or both caudate nucleus and putamen displayed a high signal in fluid attenuated inversion recovery or diffusion-weight imaging magnetic resonance imaging. Based on our analyses, magnetic

  13. Clinical applications of single photon emission tomography in neuromedicine. Part 1. Neuro-oncology, epilepsy, movement disorders, cerebrovascular disease

    International Nuclear Information System (INIS)

    Bartenstein, P.; Gruenwald, F.; Kuwert, T.; Tatsch, K.; Sabri, O.; Benkert, O.; Fahlbusch, R.; Gruender, G.; Herzholz, K.; Weiller, C.

    2000-01-01

    Single photon emission tomography is, because of its availability and the relatively low costs, the functional imaging modality currently most widely used for clinical applications in the brain. Beside the application of radiopharmaceuticals for the assessment of regional cerebral blood flow there is an increasing clinical use of more selective SPECT-radiopharmaceuticals, like amino acid analogs or receptor ligands. This article gives in its first part a critical review of the clinical applications of SPECT in neuro-oncology, epilepsy, basal ganglia disorders and cerebrovascular disease. (orig.) [de

  14. Post-and prenatal testing for FSHD: Diagnostic approach for sporadic and familial cases

    Energy Technology Data Exchange (ETDEWEB)

    Bakker, E.; Wielen, M.J.R. van der; Losekoot, M. [Leiden Univ. (Netherlands)] [and others

    1994-09-01

    Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder. A major locus for FSHD was localized at the distal part of chromosome 4q. More recently, a disease associated DNA rearrangement was detected with the polymorphic probe p13E-11 (D4F104S1). In most FSHD patients, a shortened (< 28 kb instead of 50-300 kb) allele was detected. In sporadic patients a de novo deletion was found to be associated with the occurrence of FSHD. Diagnostically there were a number of problems to overcome. (1) About 5% of families show no linkage to chromosome 4q35. (2) Some 10% normal individuals show a shortened p13E11 allele, which is located at chromosome 10q. Our diagnostic strategy is as follows: If in sporadic patients a shortened p13E-11 allele is detected and neither parent shows this allele, then a de novo deletion has occurred and FSHD is proven. If no shortened allele is detected FSHD is less likely. In case one of the parents shows a shortened allele then clinical investigations and linkage studies are performed for both chromosome 4 and 10 markers. In familial cases both p13E-11 and polymorphic markers are tested. A shortened p13E-11 allele and/or chromosome 4 haplotype segregating with FSHD can be used for presymptomatic and prenatal diagnosis. Up to now, 45 sporadic cases and 21 families were referred for diagnosis. In 22 sporadic cases a shortened allele was detected, 13 were proven de novo. The first prenatal test was recently performed. The index patient was a de novo case with a shortened allele; the fetus had inherited this allele.

  15. Clinical Significance of Microsatellite Instability in Sporadic Epithelial Ovarian Tumors

    OpenAIRE

    Yoon, Bo-Sung; Kim, Young-Tae; Kim, Jae-Hoon; Kim, Sang-Wun; Nam, Eun-Ji; Cho, Nam-Hoon; Kim, Jae-Wook; Kim, Sunghoon

    2008-01-01

    Purpose We evaluated the expression of microsatellite instability (MSI) in sporadic ovarian tumors using 5 standard and 9 new MSI markers to determine the clinical significance of MSI in sporadic epithelial ovarian tumors. Materials and Methods MSI was examined in 21 borderline and 25 malignant ovarian tumors. Polymerase chain reaction (PCR) was performed using the 5 markers recommended by the National Cancer Institute (NCI) for colon cancer and 9 additional markers. MSI was determined using ...

  16. Eye movement desensitization and reprocessing versus cognitive-behavioral therapy for adult posttraumatic stress disorder: systematic review and meta-analysis.

    Science.gov (United States)

    Chen, Ling; Zhang, Guiqing; Hu, Min; Liang, Xia

    2015-06-01

    Posttraumatic stress disorder (PTSD) is a relatively common mental disorder, with an estimated lifetime prevalence of ∼5.7%. Eye movement desensitization and reprocessing (EMDR) and cognitive-behavioral therapy (CBT) are the most often studied and most effective psychotherapies for PTSD. However, evidence is inadequate to conclude which treatment is superior. Therefore, we conducted a meta-analysis to confirm the effectiveness of EMDR compared to CBT for adult PTSD. We searched Medline, PubMed, Ebsco, Proquest, and Cochrane (1989-2013) to identify relevant randomized control trials comparing EMDR and CBT for PTSD. We included 11 studies (N = 424). Although all the studies had methodological limitations, meta-analyses for total PTSD scores revealed that EMDR was slightly superior to CBT. Cumulative meta-analysis confirmed this and a meta-analysis for subscale scores of PTSD symptoms indicated that EMDR was better for decreased intrusion and arousal severity compared to CBT. Avoidance was not significantly different between groups. EMDR may be more suitable than CBT for PTSD patients with prominent intrusion or arousal symptoms. However, the limited number and poor quality of the original studies included suggest caution when drawing final conclusions.

  17. Treating Post-traumatic Stress Disorder in Patients with Multiple Sclerosis: A Randomized Controlled Trial Comparing the Efficacy of Eye Movement Desensitization and Reprocessing and Relaxation Therapy.

    Science.gov (United States)

    Carletto, Sara; Borghi, Martina; Bertino, Gabriella; Oliva, Francesco; Cavallo, Marco; Hofmann, Arne; Zennaro, Alessandro; Malucchi, Simona; Ostacoli, Luca

    2016-01-01

    Multiple Sclerosis (MS) is a demyelinating autoimmune disease that imposes a significant emotional burden with heavy psychosocial consequences. Several studies have investigated the association between MS and mental disorders such as depression and anxiety, and recently researchers have focused also on Post-traumatic Stress Disorder (PTSD). This is the first study that investigates the usefulness of proposing a treatment for PTSD to patients with MS. A randomized controlled trial with patients with MS diagnosed with PTSD comparing Eye Movement Desensitization and Reprocessing (EMDR; n = 20) and Relaxation Therapy (RT; n = 22). The primary outcome measure was the proportion of participants that no longer meet PTSD diagnosis as measured with Clinician Administered PTSD Scale 6-months after the treatment. The majority of patients were able to overcome their PTSD diagnosis after only 10 therapy sessions. EMDR treatment appears to be more effective than RT in reducing the proportion of patients with MS suffering from PTSD. Both treatments are effective in reducing PTSD severity, anxiety and depression symptoms, and to improve Quality of Life. Although our results can only be considered preliminary, this study suggests that it is essential that PTSD symptoms are detected and that brief and cost-effective interventions to reduce PTSD and associated psychological symptoms are offered to patients, in order to help them to reduce the psychological burden associated with their neurological condition. NCT01743664, https://clinicaltrials.gov/ct2/show/NCT01743664.

  18. Treating Post-traumatic Stress Disorder in patients with Multiple Sclerosis: a randomized controlled trial comparing the efficacy of Eye Movement Desensitization and Reprocessing and Relaxation Therapy.

    Directory of Open Access Journals (Sweden)

    Sara eCarletto

    2016-04-01

    Full Text Available Objective: Multiple Sclerosis (MS is a demyelinating autoimmune disease that imposes a significant emotional burden with heavy psychosocial consequences. Several studies have investigated the association between MS and mental disorders such as depression and anxiety, and recently researchers have focused also on Post-traumatic Stress Disorder (PTSD. This is the first study that investigates the usefulness of proposing a treatment for PTSD to patients with MS. Methods: A randomized controlled trial with patients with MS diagnosed with PTSD comparing Eye Movement Desensitization and Reprocessing (EMDR; n = 20 and Relaxation Therapy (RT; n = 22. The primary outcome measure was the proportion of participants that no longer meet PTSD diagnosis as measured with Clinician Administered PTSD Scale six-months after the treatment.Results: The majority of patients were able to overcome their PTSD diagnosis after only 10 therapy sessions. EMDR treatment appears to be more effective than RT in reducing the proportion of patients with MS suffering from PTSD. Both treatments are effective in reducing PTSD severity, anxiety symptoms and to improve Quality of Life (QoL. Conclusions: Although our results can only be considered preliminary, this study suggests that it is essential that PTSD symptoms are detected and that brief and cost-effective interventions to reduce PTSD and associated psychological symptoms are offered to patients, in order to help them to reduce the psychological burden associated with their neurological condition.Trail registration: NCT01743664, https://clinicaltrials.gov/ct2/show/NCT01743664

  19. Self-esteem treatment in anxiety: A randomized controlled crossover trial of Eye Movement Desensitization and Reprocessing (EMDR) versus Competitive Memory Training (COMET) in patients with anxiety disorders.

    Science.gov (United States)

    Staring, A B P; van den Berg, D P G; Cath, D C; Schoorl, M; Engelhard, I M; Korrelboom, C W

    2016-07-01

    Little is known about treating low self-esteem in anxiety disorders. This study evaluated two treatments targeting different mechanisms: (1) Eye Movement Desensitization and Reprocessing (EMDR), which aims to desensitize negative memory representations that are proposed to maintain low self-esteem; and (2) Competitive Memory Training (COMET), which aims to activate positive representations for enhancing self-esteem. A Randomized Controlled Trial (RCT) was used with a crossover design. Group 1 received six sessions EMDR first and then six sessions COMET; group 2 vice versa. Assessments were made at baseline (T0), end of first treatment (T1), and end of second treatment (T2). Main outcome was self-esteem. We included 47 patients and performed Linear Mixed Models. COMET showed more improvements in self-esteem than EMDR: effect-sizes 1.25 versus 0.46 post-treatment. Unexpectedly, when EMDR was given first, subsequent effects of COMET were significantly reduced in comparison to COMET as the first intervention. For EMDR, sequence made no difference. Reductions in anxiety and depression were mediated by better self-esteem. COMET was associated with significantly greater improvements in self-esteem than EMDR in patients with anxiety disorders. EMDR treatment reduced the effectiveness of subsequent COMET. Improved self-esteem mediated reductions in anxiety and depression symptoms. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

    Science.gov (United States)

    Vaher, Ulvi; Nõukas, Margit; Nikopensius, Tiit; Kals, Mart; Annilo, Tarmo; Nelis, Mari; Ounap, Katrin; Reimand, Tiia; Talvik, Inga; Ilves, Pilvi; Piirsoo, Andres; Seppet, Enn; Metspalu, Andres; Talvik, Tiina

    2014-12-01

    Epileptic encephalopathies represent a clinically and genetically heterogeneous group of disorders, majority of which are of unknown etiology. We used whole-exome sequencing of a parent-offspring trio to identify the cause of early infantile epileptic encephalopathy in a boy with neonatal seizures, movement disorders, and multiple congenital anomalies who died at the age of 17 months because of respiratory illness and identified a de novo heterozygous missense mutation (c.3979A>G; p.Ile1327Val) in SCN8A (voltage-gated sodium-channel type VIII alpha subunit) gene. The variant was confirmed in the proband with Sanger sequencing. Because the clinical phenotype associated with SCN8A mutations has previously been identified only in a few patients with or without epileptic seizures, these data together with our results suggest that mutations in SCN8A can lead to early infantile epileptic encephalopathy with a broad phenotypic spectrum. Additional investigations will be worthwhile to determine the prevalence and contribution of SCN8A mutations to epileptic encephalopathies. © The Author(s) 2013.

  1. Social disorder and diagnostic order: the US Mental Hygiene Movement, the Midtown Manhattan study and the development of psychiatric epidemiology in the 20th century.

    Science.gov (United States)

    March, Dana; Oppenheimer, Gerald M

    2014-08-01

    Recent scholarship regarding psychiatric epidemiology has focused on shifting notions of mental disorders. In psychiatric epidemiology in the last decades of the 20th century and the first decade of the 21st century, mental disorders have been perceived and treated largely as discrete categories denoting an individual's mental functioning as either pathological or normal. In the USA, this grew partly out of evolving modern epidemiological work responding to the State's commitment to measure the national social and economic burdens of psychiatric disorders and subsequently to determine the need for mental health services and to survey these needs over time. Notably absent in these decades have been environmentally oriented approaches to cultivating normal, healthy mental states, approaches initially present after World War II. We focus here on a set of community studies conducted in the 1950s, particularly the Midtown Manhattan study, which grew out of a holistic conception of mental health that depended on social context and had a strong historical affiliation with: the Mental Hygiene Movement and the philosophy of its founder, Adolf Meyer; the epidemiological formation of field studies and population surveys beginning early in the 20th century, often with a health policy agenda; the recognition of increasing chronic disease in the USA; and the radical change in orientation within psychiatry around World War II. We place the Midtown Manhattan study in historical context--a complex narrative of social institutions, professional formation and scientific norms in psychiatry and epidemiology, and social welfare theory that begins during the Progressive era (1890-1920) in the USA. © The Author 2014; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association.

  2. Inhibition in Parkinson’s disease: A focus on prepulse inhibition and Rapid eye movement sleep Behavior Disorder (RBD)

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle

    2014-01-01

    ’s disease (PD), multiple system atrophy (MSA), and healthy subjects, 2) to study the relation between PPI, cognitive function, and the striatal dopamine transporter in PD, and 3) to investigate the relation between increased EMG-activity during sleep and dopamine function, as measured with 123I-FP-CIT SPECT...... severity of striatal and brainstem dysfunction. PPI may be a non-invasive neurophysiological measure that can aid in the differential diagnosis between PD and MSA. Furthermore, we found that the level of PPI in PD is related to attention and processing speed, and to the density of dopamine transporters......Summary Background: α-synucleinopathies are characterized by degeneration of the nigrostriatal pathway and midbrain dopamine function. These disorders, including Parkinson’s disease (PD), are associated with sensorimotor gating deficits and show an increased prevalence of the parasomnia REM sleep...

  3. Response inhibition deficits in children with Fetal Alcohol Spectrum Disorder: Relationship between diffusion tensor imaging of the corpus callosum and eye movement control

    Directory of Open Access Journals (Sweden)

    Angelina Paolozza

    2014-01-01

    Full Text Available Response inhibition is the ability to suppress irrelevant impulses to enable goal-directed behavior. The underlying neural mechanisms of inhibition deficits are not clearly understood, but may be related to white matter connectivity, which can be assessed using diffusion tensor imaging (DTI. The goal of this study was to investigate the relationship between response inhibition during the performance of saccadic eye movement tasks and DTI measures of the corpus callosum in children with or without Fetal Alcohol Spectrum Disorder (FASD. Participants included 43 children with an FASD diagnosis (12.3 ± 3.1 years old and 35 typically developing children (12.5 ± 3.0 years old both aged 7–18, assessed at three sites across Canada. Response inhibition was measured by direction errors in an antisaccade task and timing errors in a delayed memory-guided saccade task. Manual deterministic tractography was used to delineate six regions of the corpus callosum and calculate fractional anisotropy (FA, mean diffusivity (MD, parallel diffusivity, and perpendicular diffusivity. Group differences in saccade measures were assessed using t-tests, followed by partial correlations between eye movement inhibition scores and corpus callosum FA and MD, controlling for age. Children with FASD made more saccade direction errors and more timing errors, which indicates a deficit in response inhibition. The only group difference in DTI metrics was significantly higher MD of the splenium in FASD compared to controls. Notably, direction errors in the antisaccade task were correlated negatively to FA and positively to MD of the splenium in the control, but not the FASD group, which suggests that alterations in connectivity between the two hemispheres of the brain may contribute to inhibition deficits in children with FASD.

  4. Response inhibition deficits in children with Fetal Alcohol Spectrum Disorder: relationship between diffusion tensor imaging of the corpus callosum and eye movement control.

    Science.gov (United States)

    Paolozza, Angelina; Treit, Sarah; Beaulieu, Christian; Reynolds, James N

    2014-01-01

    Response inhibition is the ability to suppress irrelevant impulses to enable goal-directed behavior. The underlying neural mechanisms of inhibition deficits are not clearly understood, but may be related to white matter connectivity, which can be assessed using diffusion tensor imaging (DTI). The goal of this study was to investigate the relationship between response inhibition during the performance of saccadic eye movement tasks and DTI measures of the corpus callosum in children with or without Fetal Alcohol Spectrum Disorder (FASD). Participants included 43 children with an FASD diagnosis (12.3 ± 3.1 years old) and 35 typically developing children (12.5 ± 3.0 years old) both aged 7-18, assessed at three sites across Canada. Response inhibition was measured by direction errors in an antisaccade task and timing errors in a delayed memory-guided saccade task. Manual deterministic tractography was used to delineate six regions of the corpus callosum and calculate fractional anisotropy (FA), mean diffusivity (MD), parallel diffusivity, and perpendicular diffusivity. Group differences in saccade measures were assessed using t-tests, followed by partial correlations between eye movement inhibition scores and corpus callosum FA and MD, controlling for age. Children with FASD made more saccade direction errors and more timing errors, which indicates a deficit in response inhibition. The only group difference in DTI metrics was significantly higher MD of the splenium in FASD compared to controls. Notably, direction errors in the antisaccade task were correlated negatively to FA and positively to MD of the splenium in the control, but not the FASD group, which suggests that alterations in connectivity between the two hemispheres of the brain may contribute to inhibition deficits in children with FASD.

  5. Novel Eye Movement Disorders in Whipple's Disease-Staircase Horizontal Saccades, Gaze-Evoked Nystagmus, and Esotropia.

    Science.gov (United States)

    Shaikh, Aasef G; Ghasia, Fatema F

    2017-01-01

    Whipple's disease, a rare systemic infectious disorder, is complicated by the involvement of the central nervous system in about 5% of cases. Oscillations of the eyes and the jaw, called oculo-masticatory myorhythmia, are pathognomonic of the central nervous system involvement but are often absent. Typical manifestations of the central nervous system Whipple's disease are cognitive impairment, parkinsonism mimicking progressive supranuclear palsy with vertical saccade slowing, and up-gaze range limitation. We describe a unique patient with the central nervous system Whipple's disease who had typical features, including parkinsonism, cognitive impairment, and up-gaze limitation; but also had diplopia, esotropia with mild horizontal (abduction more than adduction) limitation, and vertigo. The patient also had gaze-evoked nystagmus and staircase horizontal saccades. Latter were thought to be due to mal-programmed small saccades followed by a series of corrective saccades. The saccades were disconjugate due to the concurrent strabismus. Also, we noted disconjugacy in the slow phase of gaze-evoked nystagmus. The disconjugacy of the slow phase of gaze-evoked nystagmus was larger during monocular viewing condition. We propose that interaction of the strabismic drifts of the covered eyes and the nystagmus drift, putatively at the final common pathway might lead to such disconjugacy.

  6. Novel Eye Movement Disorders in Whipple’s Disease—Staircase Horizontal Saccades, Gaze-Evoked Nystagmus, and Esotropia

    Directory of Open Access Journals (Sweden)

    Aasef G. Shaikh

    2017-07-01

    Full Text Available Whipple’s disease, a rare systemic infectious disorder, is complicated by the involvement of the central nervous system in about 5% of cases. Oscillations of the eyes and the jaw, called oculo-masticatory myorhythmia, are pathognomonic of the central nervous system involvement but are often absent. Typical manifestations of the central nervous system Whipple’s disease are cognitive impairment, parkinsonism mimicking progressive supranuclear palsy with vertical saccade slowing, and up-gaze range limitation. We describe a unique patient with the central nervous system Whipple’s disease who had typical features, including parkinsonism, cognitive impairment, and up-gaze limitation; but also had diplopia, esotropia with mild horizontal (abduction more than adduction limitation, and vertigo. The patient also had gaze-evoked nystagmus and staircase horizontal saccades. Latter were thought to be due to mal-programmed small saccades followed by a series of corrective saccades. The saccades were disconjugate due to the concurrent strabismus. Also, we noted disconjugacy in the slow phase of gaze-evoked nystagmus. The disconjugacy of the slow phase of gaze-evoked nystagmus was larger during monocular viewing condition. We propose that interaction of the strabismic drifts of the covered eyes and the nystagmus drift, putatively at the final common pathway might lead to such disconjugacy.

  7. Movimentos sacádicos em indivíduos com alterações cerebelares Saccadic Movements in subjects with cerebellar disorders

    Directory of Open Access Journals (Sweden)

    Aloysio Augusto Tahan de Campos Netto

    2010-02-01

    Full Text Available A pesquisa dos movimentos sacádicos ou sacadas é parte da bateria de testes da eletro-oculografia. O cerebelo apresenta importantes conexões com o tronco cerebral e estruturas talâmicas que possuem função na geração das sacadas. OBJETIVO: Estudar as sacadas de indivíduos com cerebelopatias. FORMA DE ESTUDO: Clínico prospectivo. MATERIAL E MÉTODO: Foram selecionados 11 indivíduos com doenças cerebelares e um grupo controle com outros 27 indivíduos. Os pacientes dos dois grupos foram submetidos à pesquisa das sacadas (fixo e randomizado. A comparação das respostas foi feita entre os grupos controle e o com cerebelopatias. Foram analisadas velocidade, latência e acurácia das respostas nos grupos controle e patológico. Além disso, as variáveis sexo e idade também foram avaliadas. RESULTADOS: Não foram encontradas diferenças nos parâmetros quantitativos nos dois grupos. Idade e sexo também não exerceram influência nestes parâmetros. A morfologia das respostas, porém, foi que apresentou profundas diferenças entre os dois grupos. CONCLUSÃO: Os parâmetros quantitativos das sacadas horizontais de cerebelopatas não diferem daquelas apresentadas por indivíduos normais. Sexo e idade não exercem influência nestes parâmetros.Saccades are part of the electrooculography tests battery. The cerebellum has important connections with the brainstem and thalamic structures involved in the generation of saccades. AIM: to study saccadic movements in subjects with cerebellar disorders. STUDY METHOD: Prospective clinical study. MATERIALS AND METHODS: 11 subjects with cerebellar disorders were selected, together with a control group with 27 normal subjects. The patients of both groups had their saccadic movements registered (fixed and randomized. We compared and quantitatively analyzed the responses from both groups. RESULTS: We did not find any differences among the quantitative parameters between the two. Age and gender did not

  8. Dopamine-2 receptor extracellular N-terminus regulates receptor surface availability and is the target of human pathogenic antibodies from children with movement and psychiatric disorders.

    Science.gov (United States)

    Sinmaz, Nese; Tea, Fiona; Pilli, Deepti; Zou, Alicia; Amatoury, Mazen; Nguyen, Tina; Merheb, Vera; Ramanathan, Sudarshini; Cooper, Sandra T; Dale, Russell C; Brilot, Fabienne

    2016-12-01

    Anti-Dopamine-2 receptor (D2R) antibodies have been recently identified in a subgroup of children with autoimmune movement and psychiatric disorders, however the epitope(s) and mechanism of pathogenicity remain unknown. Here we report a major biological role for D2R extracellular N-terminus as a regulator of receptor surface availability, and as a major epitope targeted and impaired in brain autoimmunity. In transfected human cells, purified anti-D2R antibody from patients specifically and significantly reduced human D2R surface levels. Next, human D2R mutants modified in their extracellular domains were subcloned, and we analyzed the region bound by 35 anti-D2R antibody-positive patient sera using quantitative flow cytometry on live transfected cells. We found that N-glycosylation at amino acids N5 and/or N17 was critical for high surface expression in interaction with the last 15 residues of extracellular D2R N-terminus. No anti-D2R antibody-positive patient sera bound to the three extracellular loops, but all patient sera (35/35) targeted the extracellular N-terminus. Overall, patient antibody binding was dependent on two main regions encompassing amino acids 20 to 29, and 23 to 37. Residues 20 to 29 contributed to the majority of binding (77%, 27/35), among which 26% (7/27) sera bound to amino acids R20, P21, and F22, 37% (10/27) patients were dependent on residues at positions 26 and 29, that are different between humans and mice, and 30% (8/27) sera required R20, P21, F22, N23, D26, and A29. Seven patient sera bound to the region 23 to 37 independently of D26 and A29, but most sera exhibited N-glycosylation-independent epitope recognition at N23. Interestingly, no evident segregation of binding pattern according to patient clinical phenotype was observed. D2R N-terminus is a central epitope in autoimmune movement and psychiatric disorders and this knowledge could help the design of novel specific immune therapies tailored to improve patient outcome.

  9. The validity of the PAM-RL device for evaluating periodic limb movements in sleep and an investigation on night-to-night variability of periodic limb movements during sleep in patients with restless legs syndrome or periodic limb movement disorder using this system.

    Science.gov (United States)

    Kobayashi, Mina; Namba, Kazuyoshi; Ito, Eiki; Nishida, Shingo; Nakamura, Masaki; Ueki, Yoichiro; Furudate, Naomichi; Kagimura, Tatsuo; Usui, Akira; Inoue, Yuichi

    2014-01-01

    The status of night-to-night variability for periodic limb movements in sleep (PLMS) has not been clarified. With this in mind, we investigated the validity of PLMS measurement by actigraphy with the PAM-RL device in Japanese patients with suspected restless legs syndrome (RLS) or periodic limb movement disorder (PLMD) and the night-to-night variability of PLMS among the subjects. Forty-one subjects (mean age, 52.1±16.1 years) underwent polysomnography (PSG) and PAM-RL measurement simultaneously. Thereafter, subjects used the PAM-RL at home on four more consecutive nights. The correlation between PLMS index on PSG (PLMSI-PSG) and PLM index on PAM-RL (PLMI-PAM) was 0.781 (PPAM-RL. PAM-RL is thought to be valuable for assessing PLMS even in Japanese subjects. Recording of PAM-RL for three or more consecutive nights may be required to ensure the screening reliability of a patient with suspected pathologically frequent PLMS. Copyright © 2013 Elsevier B.V. All rights reserved.

  10. Efficacy of Eye Movement Desensitization and Reprocessing in Children and Adolescent with Post-traumatic Stress Disorder: A Meta-Analysis of Randomized Controlled Trials

    Directory of Open Access Journals (Sweden)

    Ana Moreno-Alcázar

    2017-10-01

    Full Text Available Background: Post-traumatic stress disorder (PTSD can occur in both adults and children/adolescents. Untreated PTSD can lead to negative long-term mental health conditions such as depression, anxiety, low self-concept, disruptive behaviors, and/or substance use disorders. To prevent these adverse effects, treatment of PTSD is essential, especially in young population due to their greater vulnerability. The principal aim of this meta-analysis was to examine the efficacy of eye movement desensitization and reprocessing (EMDR therapy for PTSD symptoms in children and adolescents. Secondary objectives were to assess whether EMDR therapy was effective to improve depressive or anxious comorbid symptoms.Methods: We conducted a thorough systematic search of studies published until January 2017, using PubMed, Medline, Scopus, and ScienceDirect as databases. All randomized controlled trials with an EMDR group condition compared to a control group, such as treatment as usual or another psychological treatment, were included. Meta-analysis was conducted with MetaNSUE to avoid biases related to missing information.Results: Eight studies (n = 295 met our inclusion criteria. EMDR therapy was superior to waitlist/placebo conditions and showed comparable efficacy to cognitive behavior therapy (CBT in reducing post-traumatic and anxiety symptoms. A similar but non-statistically significant trend was observed for depressive symptoms. Exploratory subgroup analyses showed that effects might be smaller in studies that included more males and in more recent studies.Conclusion: Despite the small number of publications, the obtained results suggest that EMDR therapy could be a promising psychotherapeutic approach for the treatment of PTSD and comorbid symptoms in young individuals. However, further research with larger samples is needed to confirm these preliminary results as well as to analyze differences in the efficacy of EMDR therapy versus CBT.

  11. Efficacy of Eye Movement Desensitization and Reprocessing in Children and Adolescent with Post-traumatic Stress Disorder: A Meta-Analysis of Randomized Controlled Trials.

    Science.gov (United States)

    Moreno-Alcázar, Ana; Treen, Devi; Valiente-Gómez, Alicia; Sio-Eroles, Albert; Pérez, Víctor; Amann, Benedikt L; Radua, Joaquim

    2017-01-01

    Background: Post-traumatic stress disorder (PTSD) can occur in both adults and children/adolescents. Untreated PTSD can lead to negative long-term mental health conditions such as depression, anxiety, low self-concept, disruptive behaviors, and/or substance use disorders. To prevent these adverse effects, treatment of PTSD is essential, especially in young population due to their greater vulnerability. The principal aim of this meta-analysis was to examine the efficacy of eye movement desensitization and reprocessing (EMDR) therapy for PTSD symptoms in children and adolescents. Secondary objectives were to assess whether EMDR therapy was effective to improve depressive or anxious comorbid symptoms. Methods: We conducted a thorough systematic search of studies published until January 2017, using PubMed, Medline, Scopus, and ScienceDirect as databases. All randomized controlled trials with an EMDR group condition compared to a control group, such as treatment as usual or another psychological treatment, were included. Meta-analysis was conducted with MetaNSUE to avoid biases related to missing information. Results: Eight studies ( n = 295) met our inclusion criteria. EMDR therapy was superior to waitlist/placebo conditions and showed comparable efficacy to cognitive behavior therapy (CBT) in reducing post-traumatic and anxiety symptoms. A similar but non-statistically significant trend was observed for depressive symptoms. Exploratory subgroup analyses showed that effects might be smaller in studies that included more males and in more recent studies. Conclusion: Despite the small number of publications, the obtained results suggest that EMDR therapy could be a promising psychotherapeutic approach for the treatment of PTSD and comorbid symptoms in young individuals. However, further research with larger samples is needed to confirm these preliminary results as well as to analyze differences in the efficacy of EMDR therapy versus CBT.

  12. Inter-rater variability in motor function assessment in Parkinson's disease between experts in movement disorders and nurses specialising in PD management.

    Science.gov (United States)

    de Deus Fonticoba, T; Santos García, D; Macías Arribí, M

    2017-05-23

    In clinical practice, assessing patients with Parkinson's disease (PD) is a complex, time-consuming task. Our purpose is to provide a rigorous and objective evaluation of how motor function in PD patients is assessed by neurologists specialising in movement disorders, on the one hand, and by nurses specialising in PD management, on the other. We conducted an observational, cross-sectional, single-centre study of 50 patients with PD (52% men; mean age: 64.7 ± 8.7 years) who were assessed between 5 January 2016 and 20 July 2016. A neurologist and a nurse evaluated motor function in the early morning hours using the Unified Parkinson's Disease Rating Scale (UPDRS) parts III and IV and Hoehn & Yahr (H&Y) scale. Tests were administered in the same PD periods (in 48 patients during the 'off' time and in 2 patients during the 'on' time). Inter-rater variability was estimated with the intraclass correlation coefficient (ICC). Forty-nine patients (98%) were classified in the same H&Y stage by both raters. Assessment times were similar for both raters. ICC for UPDRS-IV and UPDRS-III total scores were 0.955 (Pde Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Quantitative assessment of isolated rapid eye movement (REM) sleep without atonia without clinical REM sleep behavior disorder: clinical and research implications.

    Science.gov (United States)

    Sasai-Sakuma, Taeko; Frauscher, Birgit; Mitterling, Thomas; Ehrmann, Laura; Gabelia, David; Brandauer, Elisabeth; Inoue, Yuichi; Poewe, Werner; Högl, Birgit

    2014-09-01

    Rapid eye movement (REM) sleep without atonia (RWA) is observed in some patients without a clinical history of REM sleep behavior disorder (RBD). It remains unknown whether these patients meet the refined quantitative electromyographic (EMG) criteria supporting a clinical RBD diagnosis. We quantitatively evaluated EMG activity and investigated its overnight distribution in patients with isolated qualitative RWA. Fifty participants with an incidental polysomnographic finding of RWA (isolated qualitative RWA) were included. Tonic, phasic, and 'any' EMG activity during REM sleep on PSG were quantified retrospectively. Referring to the quantitative cut-off values for a polysomnographic diagnosis of RBD, 7/50 (14%) and 6/50 (12%) of the patients showed phasic and 'any' EMG activity in the mentalis muscle above the respective cut-off values. No patient was above the cut-off value for tonic EMG activity or phasic EMG activity in the anterior tibialis muscles. Patients with RWA above the cut-off value showed higher amounts of RWA during later REM sleep periods. This is the first study showing that some subjects with incidental RWA meet the refined quantitative EMG criteria for a diagnosis of RBD. Future longitudinal studies must investigate whether this subgroup with isolated qualitative RWA is at an increased risk of developing fully expressed RBD and/or neurodegenerative disease. Copyright © 2014 Elsevier B.V. All rights reserved.

  14. Abnormal Gray Matter Shape, Thickness, and Volume in the Motor Cortico-Subcortical Loop in Idiopathic Rapid Eye Movement Sleep Behavior Disorder: Association with Clinical and Motor Features.

    Science.gov (United States)

    Rahayel, Shady; Postuma, Ronald B; Montplaisir, Jacques; Bedetti, Christophe; Brambati, Simona; Carrier, Julie; Monchi, Oury; Bourgouin, Pierre-Alexandre; Gaubert, Malo; Gagnon, Jean-François

    2018-02-01

    Idiopathic rapid eye movement sleep behavior disorder (iRBD) is a major risk factor for Parkinson's disease and dementia with Lewy bodies. Anatomical gray matter abnormalities in the motor cortico-subcortical loop areas remain under studied in iRBD patients. We acquired T1-weighted images and administrated quantitative motor tasks in 41 patients with polysomnography-confirmed iRBD and 41 healthy subjects. Cortical thickness and voxel-based morphometry (VBM) analyses were performed to investigate local cortical thickness and gray matter volume changes, vertex-based shape analysis to investigate shape of subcortical structures, and structure-based volumetric analyses to investigate volumes of subcortical and brainstem structures. Cortical thickness analysis revealed thinning in iRBD patients in bilateral medial superior frontal, orbitofrontal, anterior cingulate cortices, and the right dorsolateral primary motor cortex. VBM results showed lower gray matter volume in iRBD patients in the frontal lobes, anterior cingulate gyri, and caudate nucleus. Shape analysis revealed extensive surface contraction in the external and internal segments of the left pallidum. Clinical and motor impaired features in iRBD were associated with anomalies of the motor cortico-subcortical loop. In summary, iRBD patients showed numerous gray matter structural abnormalities in the motor cortico-subcortical loop, which are associated with lower motor performance and clinical manifestations of iRBD. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  15. Eye movement desensitization and reprocessing (EMDR) for DSM-5 posttraumatic stress disorder (PTSD) in adults with intellectual disabilities: A case study review.

    Science.gov (United States)

    Jowett, Sally; Karatzias, Thanos; Brown, Michael; Grieve, Alan; Paterson, Douglas; Walley, Robert

    2016-11-01

    People with intellectual disabilities may be at a greater risk for exposure to traumatic events and consequently develop posttraumatic stress disorder (PTSD). Although eye movement desensitization and reprocessing (EMDR) is an established treatment for PTSD in the general population, research on people with intellectual disabilities is limited. This review aims to critically appraise for the 1st time case studies published in this area, because no controlled investigations are available at present. An in-depth literature review was conducted, and 6 case studies were identified from peer-reviewed journals describing EMDR therapy for psychological trauma in 14 adults with a mild to severe intellectual disability. These case studies were reviewed in terms of methods of assessing PTSD and trauma histories and delivery of EMDR therapy in order to establish the usefulness and acceptability of this intervention for people with intellectual disabilities. All cases demonstrated improvement in symptoms following EMDR therapy, with around half of the cases stating no disturbance at posttreatment and at follow-up assessments. No adverse effects were reported, demonstrating that EMDR is well tolerated by people with intellectual disabilities. EMDR is a safe and acceptable intervention for people with intellectual disabilities, and there is now sufficient evidence to conduct a randomized control trial to establish its effectiveness for DSM-5 PTSD in this population group. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  16. Grey matter density changes of structures involved in Posttraumatic Stress Disorder (PTSD) after recovery following Eye Movement Desensitization and Reprocessing (EMDR) therapy.

    Science.gov (United States)

    Boukezzi, Sarah; El Khoury-Malhame, Myriam; Auzias, Guillaume; Reynaud, Emmanuelle; Rousseau, Pierre-François; Richard, Emmanuel; Zendjidjian, Xavier; Roques, Jacques; Castelli, Nathalie; Correard, Nadia; Guyon, Valérie; Gellato, Caroline; Samuelian, Jean-Claude; Cancel, Aida; Comte, Magali; Latinus, Marianne; Guedj, Eric; Khalfa, Stéphanie

    2017-08-30

    Recovery of stress-induced structural alterations in Posttraumatic Stress Disorder (PTSD) remains largely unexplored. This study aimed to determine whether symptoms improvement is associated with grey matter (GM) density changes of brain structures involved in PTSD. Two groups of PTSD patients were involved in this study. The first group was treated with Eye Movement Desensitization and Reprocessing (EMDR) therapy and recovered from their symptoms (recovery group) (n = 11); Patients were scanned prior to therapy (T1), one week (T2) and five months after the end of therapy (T3). The second group included patients which followed a supportive therapy and remained symptomatic (wait-list group) (n = 7). They were scanned at three time-steps mimicking the same inter-scan intervals. Voxel-based morphometry (VBM) was used to characterize GM density evolution. GM density values showed a significant group-by-time interaction effect between T1 and T3 in prefrontal cortex areas. These interaction effects were driven by a GM density increase in the recovery group with respect to the wait-list group. Symptoms removal goes hand-in-hand with GM density enhancement of structures involved in emotional regulation. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  17. Brainspotting – the efficacy of a new therapy approach for the treatment of Posttraumatic Stress Disorder in comparison to Eye Movement Desensitization and Reprocessing

    Directory of Open Access Journals (Sweden)

    Anja Hildebrand

    2017-05-01

    Full Text Available Objective: This study aims at determining the efficacy of the new therapy approach Brainspotting (BSP in comparison to the established Eye Movement Desensitization and Reprocessing (EMDR approach for the treatment of Posttraumatic Stress Disorder (PTSD. Method: The sample consisted of 76 adult seeking professional help after they have been affected by a traumatic event. Clients were either treated with three 60-minute sessions of EMDR (n=23 or BSP (n=53 according to a standard protocol. Primary outcomes assessed were self-reports of the severity of PTSD symptoms. Secondary outcomes included self-reported symptoms of depression and anxiety. Assessments were conducted at pretreatment, posttreatment and 6 month after the treatment. Results: Participants in both conditions showed significant reductions in PTSD symptoms. Effect sizes (Cohen’s d from baseline to posttreatment concerning PTSD related symptoms were between 1.19 - 1.76 for clients treated with EMDR and 0.74 - 1.04 for clients treated with BSP. Conclusion: Our results indicate that Brainspotting seems to be an effective alternative therapeutic approach for clients who experienced a traumatic event and/or with PTSD.

  18. While Isolated Periodic Limb Movement Disorder Significantly Impacts Sleep Depth and Efficiency, Co-Morbid Restless Leg Syndrome Mainly Exacerbates Perceived Sleep Quality.

    Science.gov (United States)

    Hardy De Buisseret, Florent-Xavier; Mairesse, Olivier; Newell, Johan; Verbanck, Paul; Neu, Daniel

    2017-01-01

    Restless leg syndrome (RLS) and periodic limb movement (PLM) disorder (PLMD) can affect sleep quality and interfere with daytime functioning. Whether the co-morbidity of RLS further worsens daytime symptoms, sleep architecture and quality in patients with PLMs, is not yet fully clarified. Sleep (polysomnography) and daytime symptoms of 47 drug-free patients, assigned to isolated PLMD or co-morbid RLS subgroups, were compared to controls in a retrospective cohort-study (n = 501). Associations between perceived sleep quality, fatigue, sleepiness, mood and sleep variables were explored descriptively. Although co-morbid patients showed worsened sleep quality, both patient groups showed similar sleepiness and affective symptoms. While significantly differing from controls, patients presented similarly increased light sleep, decreased slow-wave sleep and lowered sleep efficiency. Altered sleep quality, fatigue and sleepiness were significantly correlated to decreased slow-wave sleep and sleep fragmentation. Affective symptoms, fatigue and perceived sleep quality also correlated to PLM index. Sleep structure and efficiency were similarly impacted in isolated PLMD and in co-morbid RLS. RLS mainly worsened perceived sleep quality. Given that systematic treatment for isolated PLMD is currently not recommended, such results may question whether no or different-from-RLS treatment strategies are compatible with optimal care. © 2017 S. Karger AG, Basel.

  19. Similar phenotype characteristics comparing familial and sporadic premature ovarian failure.

    Science.gov (United States)

    Janse, Femi; Knauff, Erik A H; Niermeijer, Martinus F; Eijkemans, Marinus J; Laven, Joop S E; Lambalk, Cornelius B; Fauser, Bart C J M; Goverde, Angelique J

    2010-07-01

    Premature ovarian failure (POF) is characterized by secondary amenorrhea before the age of 40 years, along with repeated increased follicle-stimulating hormone and low estrogen concentrations. POF is considered a complex genetic disease with a familial presentation in 12% to 50% of cases. POF may originate from different genes and various gene-environment interactions. The aim of this study was to identify possible differences in phenotype comparing women with familial and women with sporadic POF. A multicenter study was initiated in the Netherlands using standardized phenotyping. For each woman, medical history, menstrual cycle, and fertility and smoking status were assessed and a standardized examination was performed. Based on a detailed three-generation family history, women were identified as having either familial (defined as having at least one relative with POF) or sporadic POF. A total of 58 familial cases and 142 sporadic cases of POF were identified. Maternal age at menopause was significantly lower in the women with familial compared with the women with sporadic POF (41.0 +/- 7.5 and 49.7 +/- 2.6 y, respectively; P hormone-binding globulin concentration was significantly higher in the women with familial than in the women with sporadic POF (73.6 +/- 37.1 and 55.2 +/- 26.9 nmol/L, respectively; P = 0.002). All other characteristics, such as parity, bone mineral density, and serum follicle-stimulating hormone and lipid levels were similar, as was the incidence of autoimmunity and cytogenetic abnormalities. Familial and sporadic POF do not differ in phenotype except for maternal menopause age and sex hormone-binding globulin concentration. Future studies are needed to unravel the genotype-phenotype interactions in POF.

  20. Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2

    NARCIS (Netherlands)

    Burzynski, GM; Nolte, IM; Osinga, J; Ceccherini, [No Value; Twigt, B; Maas, S; Brooks, A; Verheij, J; Menacho, IP; Buys, CHCM; Hofstra, RMW

    Hirschsprung disease (HSCR), a congenital disorder characterized by intestinal obstruction due to absence of enteric ganglia along variable lengths of the intestinal tract, occurs both in familial and sporadic cases. RET mutations have been found in approximately 50% of the families, but explains

  1. Immediate Neural Plasticity Involving Reaction Time in a Saccadic Eye Movement Task is Intact in Children With Fetal Alcohol Spectrum Disorder.

    Science.gov (United States)

    Paolozza, Angelina; Munoz, Douglas P; Brien, Donald; Reynolds, James N

    2016-11-01

    Saccades are rapid eye movements that bring an image of interest onto the retina. Previous research has found that in healthy individuals performing eye movement tasks, the location of a previous visual target can influence performance of the saccade on the next trial. This rapid behavioral adaptation represents a form of immediate neural plasticity within the saccadic circuitry. Our studies have shown that children with fetal alcohol spectrum disorder (FASD) are impaired on multiple saccade measures. We therefore investigated these previous trial effects in typically developing children and children with FASD to measure sensory neural plasticity and how these effects vary with age and pathology. Both typically developing control children (n = 102; mean age = 10.54 ± 3.25; 48 males) and children with FASD (n = 66; mean age = 11.85 ± 3.42; 35 males) were recruited from 5 sites across Canada. Each child performed a visually guided saccade task. Reaction time and saccade amplitude were analyzed and then assessed based on the previous trial. There was a robust previous trial effect for both reaction time and amplitude, with both the control and FASD groups displaying faster reaction times and smaller saccades during alternation trials (visual target presented on the opposite side to the previous trial). Children with FASD exhibited smaller overall mean amplitude and smaller amplitude selectively on alternation trials compared with controls. The effect of the previous trial on reaction time and amplitude did not differ across childhood and adolescent development. Children with FASD did not display any significant reaction time differences, despite exhibiting numerous deficits in motor and higher level cognitive control over saccades in other studies. These results suggest that this form of immediate neural plasticity in response to sensory information before saccade initiation remains intact in children with FASD. In contrast, the previous trial effect on

  2. Sporadic potassium layers and their connection to sporadic E layers in the mesopause region at Beijing, China

    Directory of Open Access Journals (Sweden)

    Jing Jiao

    2017-06-01

    Full Text Available A double-laser beam lidar to measure potassium (K layer at Beijing (40.5° N, 116.2° E was successfully developed in 2010. The parameters of sporadic Ks layers and their distributions were given. The seasonal distribution of Ks occurrence frequency was obtained, with two maxima in July and January. The seasonal distributions of sporadic Es layer occurrence frequency over Beijing differ from those of Ks. However, the good correlation between Es and Ks in the case-by-case studies supports the mechanism of neutralization of metal ions in a descending Es layer.

  3. Positive 14-3-3 and tau proteins in a sporadic Creutzfeldt-Jakob disease case and a brief perspective of prion diseases in Colombia.

    Science.gov (United States)

    Escandón-Vargas, Kevin; Zorrilla-Vaca, Andrés; Corral-Prado, Raúl Heli

    2016-02-24

    Prion diseases are rare neurodegenerative disorders occurring worldwide and affecting both humans and animals. Herein, we present the case of a patient diagnosed with definite sporadic Creutzfeldt-Jakob disease in Cali, Colombia. Besides neurological examination, 14-3-3 and tau proteins were valuable tools supporting the diagnosis. We also present a brief perspective of the prion diseases reported in Colombia to date. Although the incidence of prion diseases is unknown in Colombia, our literature review revealed that one case of scrapie in 1981 and 29 human sporadic cases of Creutzfeldt-Jakob disease have been documented and published in our country.

  4. Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.

    Science.gov (United States)

    Mitropoulos, Konstantinos; Merkouri Papadima, Eleni; Xiromerisiou, Georgia; Balasopoulou, Angeliki; Charalampidou, Kyriaki; Galani, Vasiliki; Zafeiri, Krystallia-Vassiliki; Dardiotis, Efthymios; Ralli, Styliani; Deretzi, Georgia; John, Anne; Kydonopoulou, Kyriaki; Papadopoulou, Elpida; di Pardo, Alba; Akcimen, Fulya; Loizedda, Annalisa; Dobričić, Valerija; Novaković, Ivana; Kostić, Vladimir S; Mizzi, Clint; Peters, Brock A; Basak, Nazli; Orrù, Sandro; Kiskinis, Evangelos; Cooper, David N; Gerou, Spyridon; Drmanac, Radoje; Bartsakoulia, Marina; Tsermpini, Evangelia-Eirini; Hadjigeorgiou, Georgios M; Ali, Bassam R; Katsila, Theodora; Patrinos, George P

    2017-12-08

    Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted a next-generation sequencing approach to Greek patients suffering from sporadic ALS (together with their healthy counterparts) in order to explore further the genetic basis of sporadic ALS (sALS). Whole-genome sequencing analysis of Greek sALS patients revealed a positive association between FTO and TBC1D1 gene variants and sALS. Further, linkage disequilibrium analyses were suggestive of a specific disease-associated haplotype for FTO gene variants. Genotyping for these variants was performed in Greek, Sardinian, and Turkish sALS patients. A lack of association between FTO and TBC1D1 variants and sALS in patients of Sardinian and Turkish descent may suggest a founder effect in the Greek population. FTO was found to be highly expressed in motor neurons, while in silico analyses predicted an impact on FTO and TBC1D1 mRNA splicing for the genomic variants in question. To our knowledge, this is the first study to present a possible association between FTO gene variants and the genetic etiology of sALS. In addition, the next-generation sequencing-based genomics approach coupled with the two-step validation strategy described herein has the potential to be applied to other types of human complex genetic disorders in order to identify variants of clinical significance.

  5. Non-choreic movement disorders as initial manifestations of Huntington's disease Distúrbios do movimento não-coreicos como manifestação inicial da doença de Huntington

    Directory of Open Access Journals (Sweden)

    Nilson Becker

    2007-06-01

    Full Text Available We describe seven patients with genetically confirmed Huntington's disease (HD who had non-choreic movement disorders as presenting symptoms or signs. Patients with movement disorders other than chorea in the early stages tended to have larger CAG trinucleotide repeat expansion in comparison with more "typical" HD patients.Nós descrevemos sete pacientes com doença de Huntington, geneticamente confirmada, cuja apresentação motora inicial foi diferente de coréia. Pacientes com manifestação motora inicial diferente de coréia apresentaram maior número de expansões repetidas de CAG trinucleotídeo quando comparados com aqueles com sintomatologia motora "típica".

  6. Brain sonography in African infants with complicated sporadic ...

    African Journals Online (AJOL)

    Background: To determine the structural findings in brain sonography of African infants with complicated sporadic bacterial meningitis. Materials and Methods: Retrospective assessment of medical records of patients who underwent brain sonography on account of complicated bacterial meningitis. The brain sonography ...

  7. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    I. Zerr; K. Kallenberg; D.M. Summers; C. Romero; A. Taratuto; U. Heinemann; M. Breithaupt; D. Varges; B. Meissner; A. Ladogana (Anna); M. Schuur (Maaike); S. Haik; S.J. Collins (Steven); G.H. Jansen (Gerard); G.B. Stokin; J. Pimentel; E. Hewer; D. Collie; P. Smith; H. Roberts; J.P. Brandel; P. Tikka-Kleemola (Päivi); M. Pocchiari (Maurizio); C. Begue; P. Cras (Patrick); R.G. Will; P. Sanchez-Juan (Pascual)

    2009-01-01

    textabstractSeveral molecular subtypes of sporadic Creutzfeldt-Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications

  8. Comparing Sporadic and Outbreak-associated Foodborne Illness

    Centers for Disease Control (CDC) Podcasts

    2016-11-04

    Dr. Eric Ebel, a veterinarian and risk analyst with USDA’s Food Safety and Inspection Service, discusses his article on sporadic and outbreak-associated cases of foodborne illness.  Created: 11/4/2016 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 11/4/2016.

  9. Prevalence of Abnormal Cervical Smears from Sporadic Screening ...

    African Journals Online (AJOL)

    The aim of the study was to find the prevalence of abnormal smears in an unscreened population of sexually active women attending a gynaecological clinic. “Pap” smears were taken sporadically for cytological examination from sexually active women attending gynaecological clinics at the Federal Medical Centre Gombe.

  10. Legionnaires’ Disease: Clinicoradiological Comparison of Sporadic Versus Outbreak Cases

    Directory of Open Access Journals (Sweden)

    Hafiz Rizwan Talib Hashmi

    2017-06-01

    Full Text Available Background: In 2015, New York City experienced the worst outbreak of Legionnaires’ disease in the history of the city. We compare patients seen during the 2015 outbreak with sporadic cases of Legionella during the past 5 years. Methods: We conducted a retrospective chart review of 90 patients with Legionnaires’ disease, including sporadic cases of Legionella infection admitted from 2010 to 2015 (n = 55 and cases admitted during the 2015 outbreak (n = 35. Results: We saw no significant differences between the 2 groups regarding demographics, smoking habits, alcohol intake, underlying medical disease, or residence type. Univariate and multivariate analyses showed that patients with sporadic case of Legionella had a longer stay in the hospital and intensive care unit as well as an increased stay in mechanical ventilation. Short-term mortality, discharge disposition, and most clinical parameters did not differ significantly between the 2 groups. Conclusions: We found no specific clinicoradiological characteristics that could differentiate sporadic from epidemic cases of Legionella . Early recognition and high suspicion for Legionnaires’ disease are critical to provide appropriate treatment. Cluster of cases should increase suspicion for an outbreak.

  11. Cyclin D1 genotype and expression in sporadic hemangioblastomas.

    NARCIS (Netherlands)

    Gijtenbeek, J.M.M.; Sprenger, S.H.E.; Franke, B.; Wesseling, P.; Jeuken, J.W.M.

    2005-01-01

    Central nervous system (CNS) hemangioblastomas are highly-vascularized tumors occurring in sporadic form or as a manifestation of von Hippel-Lindau disease (VHL). The VHL protein (pVHL) regulates various target genes, one of which is the CCND1 gene, encoding cyclin D1, a protein that plays a

  12. Dyschromatosis symmetrica hereditaria: Report of a sporadic case ...

    African Journals Online (AJOL)

    ... hands and feet, with no family history of similar lesions. The diagnosis was confirmed by the typical histologic finding of basal hyperpigmentation with normal number of melanocytes and absence of melanin incontinence from a hyperpigmented lesion. Keywords: DyschromatosisSymmetricaHereditaria, Nigerian, Sporadic ...

  13. Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy

    NARCIS (Netherlands)

    Visser, J.; de Visser, M.; van den Berg-Vos, R. M.; van den Berg, L. H.; Wokke, J. H. J.; de Jong, J. M. B. V.; Franssen, H.

    2008-01-01

    Objective We present the electrophysiologic data at baseline of 37 patients who were included in our prospective study on sporadic adult-onset progressive muscular atrophy (PMA). The aim was to correlate electrophysiological. signs of lower motor neuron (LMN) loss with clinical signs of LMN loss,

  14. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

    DEFF Research Database (Denmark)

    Halvarsson, Britta; Anderson, Harald; Domanska, Katarina

    2008-01-01

    Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers...... and excluded 61.5% of the tumors from MMR testing. This clinicopathologic index thus successfully selects MMR-defective colon cancers. Udgivelsesdato: 2008-Feb...

  15. [The practice guideline 'Dermatomyositis, polymyositis and sporadic inclusion body myositis'

    NARCIS (Netherlands)

    Hoogendijk, J.E.; Bijlsma, J.W.J.; Engelen, B.G.M. van; Lindeman, E.J.M.; Royen-Kerkhof, A. van; Rie, M.A. de; Visser, M. de; Jennekens, F.G.I.

    2005-01-01

    This guideline presents recommendations for the diagnosis and treatment of dermatomyositis, polymyositis and sporadic inclusion body myositis (sIBM) according to the best available evidence. Characteristic skin abnormalities can be sufficient for the diagnosis of dermatomyositis. In case of doubt, a

  16. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

    Science.gov (United States)

    Bögershausen, Nina; Shahrzad, Nassim; Chong, Jessica X; von Kleist-Retzow, Jürgen-Christoph; Stanga, Daniela; Li, Yun; Bernier, Francois P; Loucks, Catrina M; Wirth, Radu; Puffenberger, Eric G; Hegele, Robert A; Schreml, Julia; Lapointe, Gabriel; Keupp, Katharina; Brett, Christopher L; Anderson, Rebecca; Hahn, Andreas; Innes, A Micheil; Suchowersky, Oksana; Mets, Marilyn B; Nürnberg, Gudrun; McLeod, D Ross; Thiele, Holger; Waggoner, Darrel; Altmüller, Janine; Boycott, Kym M; Schoser, Benedikt; Nürnberg, Peter; Ober, Carole; Heller, Raoul; Parboosingh, Jillian S; Wollnik, Bernd; Sacher, Michael; Lamont, Ryan E

    2013-07-11

    Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features including intellectual disability. Here, we report the identification of mutations in transport protein particle complex 11 (TRAPPC11) in three individuals of a consanguineous Syrian family presenting with LGMD and in five individuals of Hutterite descent presenting with myopathy, infantile hyperkinetic movements, ataxia, and intellectual disability. By using a combination of whole-exome or genome sequencing with homozygosity mapping, we identified the homozygous c.2938G>A (p.Gly980Arg) missense mutation within the gryzun domain of TRAPPC11 in the Syrian LGMD family and the homozygous c.1287+5G>A splice-site mutation resulting in a 58 amino acid in-frame deletion (p.Ala372_Ser429del) in the foie gras domain of TRAPPC11 in the Hutterite families. TRAPPC11 encodes a component of the multiprotein TRAPP complex involved in membrane trafficking. We demonstrate that both mutations impair the binding ability of TRAPPC11 to other TRAPP complex components and disrupt the Golgi apparatus architecture. Marker trafficking experiments for the p.Ala372_Ser429del deletion indicated normal ER-to-Golgi trafficking but dramatically delayed exit from the Golgi to the cell surface. Moreover, we observed alterations of the lysosomal membrane glycoproteins lysosome-associated membrane protein 1 (LAMP1) and LAMP2 as a consequence of TRAPPC11 dysfunction supporting a defect in the transport of secretory proteins as the underlying pathomechanism. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  17. The efficacy of eye movement desensitization and reprocessing for post-traumatic stress disorder and depression among Syrian refugees: results of a randomized controlled trial.

    Science.gov (United States)

    Acarturk, C; Konuk, E; Cetinkaya, M; Senay, I; Sijbrandij, M; Gulen, B; Cuijpers, P

    2016-09-01

    Previous research indicates a high prevalence of post-traumatic stress disorder (PTSD) and depression among refugees. Eye movement desensitization and reprocessing (EMDR) is an effective treatment for PTSD for victims of natural disasters, car accidents or other traumatic events. The current study examined the effect of EMDR on symptoms of PTSD and depression by comparing the treatment with a wait-list control condition in Syrian refugees. Adult refugees located in Kilis Refugee Camp at the Turkish-Syrian border with a PTSD diagnosis were randomly allocated to either EMDR (n = 37) or wait-list control (n = 33) conditions. All participants were assessed with the Mini-International Neuropsychiatric Interview Plus at pre-intervention, at 1 week after finishing the intervention and at 5 weeks after finishing the intervention. The main outcome measures were the Harvard Trauma Questionnaire (HTQ) and the Impact of Event Scale-Revised. The Beck Depression Inventory and the Hopkins Symptoms Checklist-25 were included as secondary outcome measures. The Trial Registration no. is NCT01847742. Mixed-model analyses adjusted for the baseline scores indicated a significant effect of group at post-treatment indicating that the EMDR therapy group showed a significantly larger reduction of PTSD symptoms as assessed with the HTQ. Similar findings were found on the other outcome measures. There was no effect of time or group × time interaction on any measure, showing that the difference between the groups at the post-treatment was maintained to the 5-week follow-up. EMDR may be effective in reducing PTSD and depression symptoms among Syrian refugees with PTSD located in a refugee camp.

  18. Slow oscillating transcranial direct current stimulation during non-rapid eye movement sleep improves behavioral inhibition in attention-deficit/ hyperactivity disorder

    Directory of Open Access Journals (Sweden)

    Manuel Tobias Munz

    2015-08-01

    Full Text Available Background: Behavioral inhibition, which is a later-developing executive function (EF and anatomically located in prefrontal areas, is impaired in attention-deficit and hyperactivity disorder (ADHD. While optimal EFs have been shown to depend on efficient sleep in healthy subjects, the impact of sleep problems, frequently reported in ADHD, remains elusive. Findings of macroscopic sleep changes in ADHD are inconsistent, but there is emerging evidence for distinct microscopic changes with a focus on prefrontal cortical regions and non-rapid eye movement (non-REM slow-wave sleep. Recently, slow oscillations (SO during non-REM sleep were found to be less functional and, as such, may be involved in sleep-dependent memory impairments in ADHD. Objective: By augmenting slow-wave power through bilateral, slow oscillating transcranial direct current stimulation (so-tDCS, frequency = 0.75 Hz during non-REM sleep, we aimed to improve daytime behavioral inhibition in children with ADHD. Methods: 14 boys (10-14 yrs diagnosed with ADHD were included. In a randomized, double-blind, cross-over design, patients received so-tDCS either in the first or in the second experimental sleep night. Inhibition control was assessed with a visuomotor go/no-go task. Intrinsic alertness was assessed with a simple stimulus response task. To control for visuomotor performance, motor memory was assessed with a finger sequence tapping task. Results: SO-power was enhanced during early non-REM sleep, accompanied by slowed reaction times and decreased standard deviations of reaction times, in the go/no-go task after so-tDCS. In contrast, intrinsic alertness and motor memory performance were not improved by so-tDCS. Conclusion: Since behavioral inhibition but not intrinsic alertness or motor memory was improved by so-tDCS, our results suggest that lateral prefrontal slow oscillations during sleep might play a specific role for executive functioning in ADHD.

  19. Efficacy of eye-movement desensitization and reprocessing for patients with posttraumatic-stress disorder: a meta-analysis of randomized controlled trials.

    Science.gov (United States)

    Chen, Ying-Ren; Hung, Kuo-Wei; Tsai, Jui-Chen; Chu, Hsin; Chung, Min-Huey; Chen, Su-Ru; Liao, Yuan-Mei; Ou, Keng-Liang; Chang, Yue-Cune; Chou, Kuei-Ru

    2014-01-01

    We performed the first meta-analysis of clinical studies by investigating the effects of eye-movement desensitization and reprocessing (EMDR) therapy on the symptoms of posttraumatic stress disorder (PTSD), depression, anxiety, and subjective distress in PTSD patients treated during the past 2 decades. We performed a quantitative meta-analysis on the findings of 26 randomized controlled trials of EMDR therapy for PTSD published between 1991 and 2013, which were identified through the ISI Web of Science, Embase, Cochrane Library, MEDLINE, PubMed, Scopus, PsycINFO, and the Cumulative Index to Nursing and Allied Health Literature electronic databases, among which 22, 20, 16, and 11 of the studies assessed the effects of EMDR on the symptoms of PTSD, depression, anxiety, and subjective distress, respectively, as the primary clinical outcome. The meta-analysis revealed that the EMDR treatments significantly reduced the symptoms of PTSD (g = -0.662; 95% confidence interval (CI): -0.887 to -0.436), depression (g = -0.643; 95% CI: -0.864 to -0.422), anxiety (g = -0.640; 95% CI: -0.890 to -0.390), and subjective distress (g = -0.956; 95% CI: -1.388 to -0.525) in PTSD patients. This study confirmed that EMDR therapy significantly reduces the symptoms of PTSD, depression, anxiety, and subjective distress in PTSD patients. The subgroup analysis indicated that a treatment duration of more than 60 min per session was a major contributing factor in the amelioration of anxiety and depression, and that a therapist with experience in conducting PTSD group therapy was a major contributing factor in the reduction of PTSD symptoms.

  20. Efficacy of eye-movement desensitization and reprocessing for patients with posttraumatic-stress disorder: a meta-analysis of randomized controlled trials.

    Directory of Open Access Journals (Sweden)

    Ying-Ren Chen

    Full Text Available BACKGROUND: We performed the first meta-analysis of clinical studies by investigating the effects of eye-movement desensitization and reprocessing (EMDR therapy on the symptoms of posttraumatic stress disorder (PTSD, depression, anxiety, and subjective distress in PTSD patients treated during the past 2 decades. METHODS: We performed a quantitative meta-analysis on the findings of 26 randomized controlled trials of EMDR therapy for PTSD published between 1991 and 2013, which were identified through the ISI Web of Science, Embase, Cochrane Library, MEDLINE, PubMed, Scopus, PsycINFO, and the Cumulative Index to Nursing and Allied Health Literature electronic databases, among which 22, 20, 16, and 11 of the studies assessed the effects of EMDR on the symptoms of PTSD, depression, anxiety, and subjective distress, respectively, as the primary clinical outcome. RESULTS: The meta-analysis revealed that the EMDR treatments significantly reduced the symptoms of PTSD (g = -0.662; 95% confidence interval (CI: -0.887 to -0.436, depression (g = -0.643; 95% CI: -0.864 to -0.422, anxiety (g = -0.640; 95% CI: -0.890 to -0.390, and subjective distress (g = -0.956; 95% CI: -1.388 to -0.525 in PTSD patients. CONCLUSION: This study confirmed that EMDR therapy significantly reduces the symptoms of PTSD, depression, anxiety, and subjective distress in PTSD patients. The subgroup analysis indicated that a treatment duration of more than 60 min per session was a major contributing factor in the amelioration of anxiety and depression, and that a therapist with experience in conducting PTSD group therapy was a major contributing factor in the reduction of PTSD symptoms.

  1. White and gray matter abnormalities in idiopathic rapid eye movement sleep behavior disorder: a diffusion-tensor imaging and voxel-based morphometry study.

    Science.gov (United States)

    Scherfler, Christoph; Frauscher, Birgit; Schocke, Michael; Iranzo, Alex; Gschliesser, Viola; Seppi, Klaus; Santamaria, Joan; Tolosa, Eduardo; Högl, Birgit; Poewe, Werner

    2011-02-01

    We applied diffusion-tensor imaging (DTI) including measurements of mean diffusivity (MD), a parameter of brain tissue integrity, fractional anisotropy (FA), a parameter of neuronal fiber integrity, as well as voxel-based morphometry (VBM), a measure of gray and white matter volume, to detect brain tissue changes in patients with idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD). Magnetic resonance imaging (MRI) was performed in 26 patients with iRBD (mean disease duration, 9.2 ± 6.4 years) and 14 age-matched healthy control subjects. Statistical parametric mapping (SPM) was applied to objectively identify focal changes of MRI parameters throughout the entire brain volume. SPM localized significant decreases of FA in the tegmentum of the midbrain and rostral pons and increases of MD within the pontine reticular formation overlapping with a cluster of decreased FA in the midbrain (p < 0.001). VBM revealed increases of gray matter densities in both hippocampi of iRBD patients (p < 0.001). The observed changes in the pontomesencephalic brainstem localized 2 areas harboring key neuronal circuits believed to be involved in the regulation of REM sleep and overlap with areas of structural brainstem damage causing symptomatic RBD in humans. Bilateral increases in gray matter density of the hippocampus suggest functional neuronal reorganization in this brain area in iRBD. This study indicates that DTI detects distinct structural brainstem tissue abnormalities in iRBD in the regions where REM is modulated. Further studies should explore the relationship between MRI pathology and the risk of patients with iRBD of developing alpha-synuclein-related neurodegenerative diseases like Parkinson disease. Copyright © 2010 American Neurological Association.

  2. Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Suna Lahut

    2017-05-01

    Full Text Available Parkinson's disease (PD is a frequent neurodegenerative process in old age. Accumulation and aggregation of the lipid-binding SNARE complex component α-synuclein (SNCA underlies this vulnerability and defines stages of disease progression. Determinants of SNCA levels and mechanisms of SNCA neurotoxicity have been intensely investigated. In view of the physiological roles of SNCA in blood to modulate vesicle release, we studied blood samples from a new large pedigree with SNCA gene duplication (PARK4 mutation to identify effects of SNCA gain of function as potential disease biomarkers. Downregulation of complexin 1 (CPLX1 mRNA was correlated with genotype, but the expression of other Parkinson's disease genes was not. In global RNA-seq profiling of blood from presymptomatic PARK4 indviduals, bioinformatics detected significant upregulations for platelet activation, hemostasis, lipoproteins, endocytosis, lysosome, cytokine, Toll-like receptor signaling and extracellular pathways. In PARK4 platelets, stimulus-triggered degranulation was impaired. Strong SPP1, GZMH and PLTP mRNA upregulations were validated in PARK4. When analysing individuals with rapid eye movement sleep behavior disorder, the most specific known prodromal stage of general PD, only blood CPLX1 levels were altered. Validation experiments confirmed an inverse mutual regulation of SNCA and CPLX1 mRNA levels. In the 3′-UTR of the CPLX1 gene we identified a single nucleotide polymorphism that is significantly associated with PD risk. In summary, our data define CPLX1 as a PD risk factor and provide functional insights into the role and regulation of blood SNCA levels. The new blood biomarkers of PARK4 in this Turkish family might become useful for PD prediction.

  3. Surgical management of movement disorders

    African Journals Online (AJOL)

    physiological effect of lesioning or deep brain stimulation (DBS) on these nuclei is still unknown, but the most .... the patient with focal types of dystonia, such as musician's cramp or cervical torticollis, to have normalised ... tremor with anxiety and stress, relieved by alcohol use.[13] Medical management forms the mainstay of ...

  4. Protest movements

    International Nuclear Information System (INIS)

    Rucht, D.

    1989-01-01

    The author describes the development of protest movements in postwar Germay and outlines two essential overlapping 'flow cycles'. The first of these was characterised by the restaurative postwar years. It culminated and ended in the students' revolt. This revolt is at the same time the start of a second cycle of protest which encompasses all subsequent individual movement and is initated by an economic, political and sociocultural procrastination of modernisation. This cycle culminates in the late 70s and early 80s and clearly lost momentum over the last few years. The follwoing phases and themes are described profoundly: against restauration and armament in the 1950; the revolutionary impatience of the students' movement, politisation of everyday life by the womens' movement and citizens' action groups, antinuclear- and ecological movement, differentiation and stabilisation of the movement in the 70s and 80s; break-up and continuity in the German protest behaviour. The paper contains a detailed chronicle of protest activities since 1945. (orig.) [de

  5. White matter involvement in sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Caverzasi, Eduardo; Mandelli, Maria Luisa; DeArmond, Stephen J; Hess, Christopher P; Vitali, Paolo; Papinutto, Nico; Oehler, Abby; Miller, Bruce L; Lobach, Irina V; Bastianello, Stefano; Geschwind, Michael D; Henry, Roland G

    2014-12-01

    Sporadic Creutzfeldt-Jakob disease is considered primarily a disease of grey matter, although the extent of white matter involvement has not been well described. We used diffusion tensor imaging to study the white matter in sporadic Creutzfeldt-Jakob disease compared to healthy control subjects and to correlated magnetic resonance imaging findings with histopathology. Twenty-six patients with sporadic Creutzfeldt-Jakob disease and nine age- and gender-matched healthy control subjects underwent volumetric T1-weighted and diffusion tensor imaging. Six patients had post-mortem brain analysis available for assessment of neuropathological findings associated with prion disease. Parcellation of the subcortical white matter was performed on 3D T1-weighted volumes using Freesurfer. Diffusion tensor imaging maps were calculated and transformed to the 3D-T1 space; the average value for each diffusion metric was calculated in the total white matter and in regional volumes of interest. Tract-based spatial statistics analysis was also performed to investigate the deeper white matter tracts. There was a significant reduction of mean (P=0.002), axial (P=0.0003) and radial (P=0.0134) diffusivities in the total white matter in sporadic Creutzfeldt-Jakob disease. Mean diffusivity was significantly lower in most white matter volumes of interest (PCreutzfeldt-Jakob disease. Mean diffusivity reduction reflected concomitant decrease of both axial and radial diffusivity, without appreciable changes in white matter anisotropy. Tract-based spatial statistics analysis showed significant reductions of mean diffusivity within the white matter of patients with sporadic Creutzfeldt-Jakob disease, mainly in the left hemisphere, with a strong trend (P=0.06) towards reduced mean diffusivity in most of the white matter bilaterally. In contrast, by visual assessment there was no white matter abnormality either on T2-weighted or diffusion-weighted images. Widespread reduction in white matter mean

  6. 25 years of Eye Movement Desensitization and Reprocessing (EMDR): The EMDR therapy protocol, hypotheses of its mechanism of action and a systematic review of its efficacy in the treatment of post-traumatic stress disorder.

    Science.gov (United States)

    Novo Navarro, Patricia; Landin-Romero, Ramón; Guardiola-Wanden-Berghe, Rocio; Moreno-Alcázar, Ana; Valiente-Gómez, Alicia; Lupo, Walter; García, Francisca; Fernández, Isabel; Pérez, Víctor; Amann, Benedikt L

    Eye movement desensitization and reprocessing (EMDR) is a relatively new psychotherapy that has gradually gained popularity for the treatment of post-traumatic stress disorder. In the present work, the standardised EMDR protocol is introduced, along with current hypotheses of its mechanism of action, as well as a critical review of the available literature on its clinical effectiveness in adult post-traumatic stress disorder. A systematic review of the published literature was performed using PubMed and PsycINFO databases with the keywords «eye movement desensitization and reprocessing» and «post-traumatic stress disorder» and its abbreviations «EMDR» and «PTSD». Fifteen randomised controlled trials of good methodological quality were selected. These studies compared EMDR with unspecific interventions, waiting lists, or specific therapies. Overall, the results of these studies suggest that EMDR is a useful, evidence-based tool for the treatment of post-traumatic stress disorder, in line with recent recommendations from different international health organisations. Copyright © 2016 SEP y SEPB. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. A Cross-sectional Survey and Cross-sectional Clinical Trial to Determine the Prevalence and Management of Eye Movement Disorders and Vestibular Dysfunction in Post-Stroke Patients in the Sub-Acute Phase: Protocol.

    Science.gov (United States)

    van Wyk, Andoret; Eksteen, Carina A; Becker, Piet J; Heinze, Barbara M

    2016-01-01

    Visual impairment, specifically eye movement disorders and vestibular dysfunction may have a negative influence on the functional recovery in post-stroke patients. This type of sensory dysfunction may further be associated with poor functional outcome in patients' post-stroke. In phase 1, a cross-sectional survey ( n  = 100) will be conducted to determine the prevalence of eye movement disorders and vestibular dysfunction in patients who sustained a stroke. A cross-sectional clinical trial ( n  = 60) will be conducted during phase 2 of the study to determine the effect of the combination of vestibular rehabilitation therapy (VRT) and visual scanning exercises (VSE) (experimental group) integrated with task-specific activities compared with the effect of task-specific activities as an intervention (control group) on patients who present with eye movement impairment and central vestibular dysfunction post-stroke. An audiologist will assess (a) visual acuity (static and dynamic), (b) nystagmus, (c) saccadic eye movements, (d) smooth pursuit eye movements, (e) vestibulo-ocular reflex, and (f) saccular, utricular, and vestibular nerve function. An independent physiotherapist will assess (1) cognitive function, (2) residual oculomotor visual performance, (3) visual-perceptual system, (4) functional balance, (5) gait, (6) functional ability, (7) presence of anxiety and/or depression, and (8) level of participation in physical activity. Ethics approval has been obtained from the Ethics Committee of the Faculty of Health Sciences at the University of Pretoria (UP) (374/2015). The study will be submitted as fulfillment for the PhD degree at UP. Dissemination will include submission to peer-reviewed professional journals and presentation at congresses. Training of rehabilitation team members on the integration of VSE and VRT into task-specific activities in rehabilitation will be done if the outcome of the experimental group's functional performance is clinically and

  8. MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.

    Science.gov (United States)

    Arnold, Andrew

    2016-01-01

    Primary hyperparathyroidism is primarily due to a solitary parathyroid adenoma but multi-gland disease, parathyroid carcinoma, and ectopic parathyroid hormone production can occur. Although primary hyperparathyroidism mostly presents sporadically, strong familial predispositions also exist. Much is known about heritable genetic mutations responsible for these syndromes, including multiple endocrine neoplasia types 1 and 2A, hyperparathyroidism-jaw tumor syndrome, and familial hypocalciuric hypercalcemia. Acquired mutations in common sporadic hyperparathyroidism have also been discovered. Here we focus on the most common and well-established genetic drivers: 1) involvement of the oncogene cyclin D1 in human neoplasia was first established in parathyroid adenomas, followed by recognition of its importance in other tumor types including breast cancer and B-lymphoid malignancy; and 2) somatic mutation of the MEN1 gene, first identified as the source of pathogenic germline mutations in patients with familial endocrinopathies, is found in a substantial fraction of non-familial parathyroid adenomas.

  9. Stochastic Signatures of Involuntary Head Micro-movements Can Be Used to Classify Females of ABIDE into Different Subtypes of Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Elizabeth B. Torres

    2017-06-01

    Full Text Available Background: The approximate 5:1 male to female ratio in clinical detection of Autism Spectrum Disorder (ASD prevents research from characterizing the female phenotype. Current open access repositories [such as those in the Autism Brain Imaging Data Exchange (ABIDE I-II] contain large numbers of females to help begin providing a new characterization of females on the autistic spectrum. Here we introduce new methods to integrate data in a scale-free manner from continuous biophysical rhythms of the nervous systems and discrete (ordinal observational scores.Methods: New data-types derived from image-based involuntary head motions and personalized statistical platform were combined with a data-driven approach to unveil sub-groups within the female cohort. Further, to help refine the clinical DSM-based ASD vs. Asperger's Syndrome (AS criteria, distributional analyses of ordinal score data from Autism Diagnostic Observation Schedule (ADOS-based criteria were used on both the female and male phenotypes.Results: Separate clusters were automatically uncovered in the female cohort corresponding to differential levels of severity. Specifically, the AS-subgroup emerged as the most severely affected with an excess level of noise and randomness in the involuntary head micro-movements. Extending the methods to characterize males of ABIDE revealed ASD-males to be more affected than AS-males. A thorough study of ADOS-2 and ADOS-G scores provided confounding results regarding the ASD vs. AS male comparison, whereby the ADOS-2 rendered the AS-phenotype worse off than the ASD-phenotype, while ADOS-G flipped the results. Females with AS scored higher on severity than ASD-females in all ADOS test versions and their scores provided evidence for significantly higher severity than males. However, the statistical landscapes underlying female and male scores appeared disparate. As such, further interpretation of the ADOS data seems problematic, rather suggesting the

  10. Imagery rescripting and eye movement desensitisation and reprocessing for treatment of adults with childhood trauma-related post-traumatic stress disorder: IREM study design.

    Science.gov (United States)

    Boterhoven de Haan, Katrina L; Lee, Christopher W; Fassbinder, Eva; Voncken, Marisol J; Meewisse, Mariel; Van Es, Saskia M; Menninga, Simone; Kousemaker, Margriet; Arntz, Arnoud

    2017-05-04

    Post-traumatic stress disorder (PTSD) that originates from childhood trauma experiences can develop into a chronic condition that has lasting effects on an individual's functioning and quality of life. While there are evidence-based guidelines for treating adult onset PTSD, treatments for adults with childhood trauma-related PTSD (Ch-PTSD) are varied and subject to ongoing debate. This study will test the effectiveness of two trauma-focused treatments, imagery rescripting (ImRs) and eye movement desensitisation and reprocessing (EMDR) in participants with Ch-PTSD. Both have been found effective in treatment of adult PTSD or mixed onset PTSD and previous research indicates they are well-tolerated treatments. However, we know less about their effectiveness for treating Ch-PTSD or their underlying working mechanisms. IREM is an international multicentre randomised controlled trial involving seven sites across Australia, Germany and the Netherlands. We aim to recruit 142 participants (minimum of n = 20 per site), who will be randomly assigned to treatment condition. Assessments will be conducted before treatment until 1-year follow-up. Assessments before and after the waitlist will assess change in time only. The primary outcome measure is change in PTSD symptom severity from pre-treatment to 8-weeks post-treatment. Secondary outcome measures include change in severity of depression, anger, trauma-related cognitions, guilt, shame, dissociation and quality of life. Underlying mechanisms of treatment will be assessed on changes in vividness, valence and encapsulated belief of a worst trauma memory. Additional sub-studies will include qualitative investigation of treatment experiences from the participant and therapists' perspective, changes in memory and the impact of treatment fidelity on outcome measures. The primary aims of this study are to compare the effectiveness of EMDR and ImRs in treating Ch-PTSD and to investigate the underlying working mechanisms of the two

  11. Dysautonomia rating scales in Parkinson's disease: sialorrhea, dysphagia, and constipation--critique and recommendations by movement disorders task force on rating scales for Parkinson's disease.

    Science.gov (United States)

    Evatt, Marian L; Chaudhuri, K Ray; Chou, Kelvin L; Cubo, Ester; Hinson, Vanessa; Kompoliti, Katie; Yang, Chengwu; Poewe, Werner; Rascol, Olivier; Sampaio, Cristina; Stebbins, Glenn T; Goetz, Christopher G

    2009-04-15

    Upper and lower gastrointestinal dysautonomia symptoms (GIDS)--sialorrhea, dysphagia, and constipation are common in Parkinson's disease (PD) and often socially as well as physically disabling for patients. Available invasive quantitative measures for assessing these symptoms and their response to therapy are time-consuming, require specialized equipment, can cause patient discomfort and present patients with risk. The Movement Disorders Society commissioned a task force to assess available clinical rating scales, critique their clinimetric properties, and make recommendations regarding their clinical utility. Six clinical researchers and a biostatistician systematically searched the literature for scales of sialorrhea, dysphagia, and constipation, evaluated the scales' previous use, performance parameters, and quality of validation data (if available). A scale was designated "Recommended" if the scale was used in clinical studies beyond the group that developed it, has been specifically used in PD reports, and clinimetric studies have established that it is a valid, reliable, and sensitive. "Suggested" scales met at least part of the above criteria, but fell short of meeting all. Based on the systematic review, scales for individual symptoms of sialorrhea, dysphagia, and constipation were identified along with three global scales that include these symptoms in the context of assessing dysautonomia or nonmotor symptoms. Three sialorrhea scales met criteria for Suggested: Drooling Severity and Frequency Scale (DSFS), Drooling Rating Scale, and Sialorrhea Clinical Scale for PD (SCS-PD). Two dysphagia scales, the Swallowing Disturbance Questionnaire (SDQ) and Dysphagia-Specific Quality of Life (SWAL-QOL), met criteria for Suggested. Although Rome III constipation module is widely accepted in the gastroenterology community, and the earlier version from the Rome II criteria has been used in a single study of PD patients, neither met criteria for Suggested or Recommended

  12. Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

    Science.gov (United States)

    Erlic, Zoran; Ploeckinger, Ursula; Cascon, Alberto; Hoffmann, Michael M; von Duecker, Laura; Winter, Aurelia; Kammel, Gerit; Bacher, Janina; Sullivan, Maren; Isermann, Berend; Fischer, Lars; Raffel, Andreas; Knoefel, Wolfram Trudo; Schott, Matthias; Baumann, Tobias; Schaefer, Oliver; Keck, Tobias; Baum, Richard P; Milos, Ioana; Muresan, Mihaela; Peczkowska, Mariola; Januszewicz, Andrzej; Cupisti, Kenko; Tönjes, Anke; Fasshauer, Mathias; Langrehr, Jan; von Wussow, Peter; Agaimy, Abbas; Schlimok, Günter; Lamberts, Regina; Wiech, Thorsten; Schmid, Kurt Werner; Weber, Alexander; Nunez, Mercedes; Robledo, Mercedes; Eng, Charis; Neumann, Hartmut P H

    2010-12-01

    Pancreatic islet cell tumors (ICTs) occur as sporadic neoplasias or as a manifestation of multiple endocrine neoplasia type 1 (MEN1) and von Hippel-Lindau disease (VHL). Molecular classification of ICTs is mandatory for timely diagnosis and surveillance. Systematic comparison of VHL-ICTs and sporadic ICTs has been lacking. Our registry-based approaches used the German NET-Registry with 259 patients with neuroendocrine tumors (NETs), who were primarily diagnosed with NETs, and the German VHL-Registry with 485 molecular genetically confirmed patients who had undergone magnetic resonance imaging or computed tomography of the abdomen. All patients provided blood DNA for testing of the MEN1 and VHL genes for intragenic mutations and large deletions. In the NET-Registry, 9/101 patients (8.9%) with ICTs had germline mutations, 8 in MEN1 and 1 in VHL. In the VHL-Registry, prevalence of NETs was 52/487 (10.6%), and all were ICTs. Interestingly, of those with VHL p.R167W, 47% developed ICTs, compared to 2% of those with p.Y98H. In total, there were 92 truly sporadic, i.e. mutation-negative ICT patients. Comparing these with the 53 VHL-ICT patients, the statistically significant differences were predominance of female gender (P=0.01), multifocal ICTs (P=0.0029), and lower malignancy rate (PICTs compared to sporadic cases. VHL was prevalent in ICTs, which are rarely the first presentation. Patients with NETs should not be subjected to genetic testing of the VHL gene, unless they have multifocal ICTs, other VHL-associated tumors, and/or a family history for VHL.

  13. The Role of Iron In Sporadic E Layers

    Science.gov (United States)

    Vondrak, T.; Woodcock, K. R. I.; Plane, J. M. C.

    Sporadic E layers in the lower thermosphere are mostly composed of metallic ions, of which Fe+ is the most abundant. Because dielectric recombination (Fe+ + elec- tron) is very slow, the lifetime of Fe+ above about 100 km is at least several days. However, below this height molecular ions such as FeO+, FeO2+ and FeN2+ form in- creasingly rapidly through reactions with O3, O2 and N2, respectively. These undergo rapid dissociative recombination with electrons, causing Fe+ to be neutralised increas- ingly rapidly as a sporadic E layer descends. Indeed, this is the most likely mechanism for the formation of the sporadic neutral Fe layers that are observed by lidar. However, atomic O plays a very important role in reducing these molecular ions back to Fe+, competing with dissociative recombination and thus slowing the rate at which Fe+ is neutralised and a sporadic E layer dissipates. This paper will discuss a laboratory and modelling study of the reactions of FeO+, FeO2+ and FeN2+ with atomic O. These reactions were studied (for the first time) in a fast flow tube, using the pulsed laser ablation of a rotating iron rod as the source of Fe+ ions in the upstream section of the tube. Reactants were then added to produce molecular ions, and atomic O further downstream through a movable injector. Fe+ and the molecular ions were detected at the downstream end of the tube using a two-stage quadrupole mass spectrometer. The spectroscopy of the FeO+ ion, observed by laser induced fluorescence, will also be discussed as a candidate for future ground-based lidar studies of the ion chemistry of the lower thermosphere.

  14. Measurements of the ionization heights of sporadic radio-meteors

    International Nuclear Information System (INIS)

    Baggaley, W.J.; Webb, T.H.

    1980-01-01

    The echo heights and echo point ionization densities of 4587 sporadic radio-meteors have been determined using a calibrated interferometric height-finding system. Over the height interval 92 to 96 km no association was found between height and ionization but, for radio-meteors ablating above and below this region, significant and opposite trends exist in the data. It is suggested that this could be evidence for the influx of two distinct meteoroid populations. (author)

  15. Association between the PRNP 1368 polymorphism and the occurrence of sporadic Creutzfeldt-Jakob disease

    Science.gov (United States)

    Bratosiewicz-Wąsik, Jolanta; Smoleń-Dzirba, Joanna; Rozemuller, Annemieke J.; Jansen, Casper; Spliet, Wim; Jansen, Gerard H.; Wąsik, Tomasz J.; Liberski, Paweł P.

    2012-01-01

    Creutzfeldt-Jakob disease (CJD) is a rare transmissible neurodegenerative disorder. The etiology of sporadic form of CJD remains unsolved. In addition to the codon 129 polymorphism, polymorphisms in the non-coding region of PRNP are considered as important factors in sCJD development. To assess a possible association between PRNP 1368 SNP and sCJD, we compared the genotype, allele and haplotype frequencies of the 1368 SNP among 46 sCJD patients of Dutch origin with the respective frequencies in healthy controls. We detected a significant association between sCJD and 1368T/T genotype. A significant difference was also observed in 1368 alleles’ distribution. In the haplotype analysis, haplotype 1368C-129G was associated with decreased risk of sCJD in Dutch population. Our findings support the hypothesis that genetic variations in the regulatory region of the PRNP gene may influence the pathogenesis of sCJD. PMID:22895088

  16. Screening of hypoxia-inducible genes in sporadic ALS.

    LENUS (Irish Health Repository)

    Cronin, Simon

    2008-10-01

    Genetic variations in two hypoxia-inducible angiogenic genes, VEGF and ANG, have been linked with sporadic amyotrophic lateral sclerosis (SALS). Common variations in these genes may reduce the levels or functioning of their products. VEGF and ANG belong to a larger group of angiogenic genes that are up-regulated under hypoxic conditions. We hypothesized that common genetic variation across other members of this group may also predispose to sporadic ALS. To screen other hypoxia-inducible angiogenic genes for association with SALS, we selected 112 tagging single nucleotide polymorphisms (tgSNPs) that captured the common genetic variation across 16 VEGF-like and eight ANG-like hypoxia-inducible genes. Screening for association was performed in 270 Irish individuals with typical SALS and 272 ethnically matched unrelated controls. SNPs showing association in the Irish phase were genotyped in a replication sample of 281 Swedish sporadic ALS patients and 286 Swedish controls. Seven markers showed association in the Irish. The one modest replication signal observed in the Swedish replication sample, at rs3801158 in the gene inhibin beta A, was for the opposite allele vs. the Irish cohort. We failed to detect association of common variation across 24 candidate hypoxia-inducible angiogenic genes with SALS.

  17. Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

    Science.gov (United States)

    Amitrano, Sara; Marozza, Annabella; Somma, Serena; Imperatore, Valentina; Hadjistilianou, Theodora; De Francesco, Sonia; Toti, Paolo; Galimberti, Daniela; Meloni, Ilaria; Cetta, Francesco; Piu, Pietro; Di Marco, Chiara; Dosa, Laura; Lo Rizzo, Caterina; Carignani, Giulia; Mencarelli, Maria Antonietta; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca

    2015-11-01

    In about 50% of sporadic cases of retinoblastoma, no constitutive RB1 mutations are detected by conventional methods. However, recent research suggests that, at least in some of these cases, there is somatic mosaicism with respect to RB1 normal and mutant alleles. The increased availability of next generation sequencing improves our ability to detect the exact percentage of patients with mosaicism. Using this technology, we re-tested a series of 40 patients with sporadic retinoblastoma: 10 of them had been previously classified as constitutional heterozygotes, whereas in 30 no RB1 mutations had been found in lymphocytes. In 3 of these 30 patients, we have now identified low-level mosaic variants, varying in frequency between 8 and 24%. In 7 out of the 10 cases previously classified as heterozygous from testing blood cells, we were able to test additional tissues (ocular tissues, urine and/or oral mucosa): in three of them, next generation sequencing has revealed mosaicism. Present results thus confirm that a significant fraction (6/40; 15%) of sporadic retinoblastoma cases are due to postzygotic events and that deep sequencing is an efficient method to unambiguously distinguish mosaics. Re-testing of retinoblastoma patients through next generation sequencing can thus provide new information that may have important implications with respect to genetic counseling and family care.

  18. Stable and sporadic symbiotic communities of coral and algal holobionts

    Science.gov (United States)

    Hester, Eric R; Barott, Katie L; Nulton, Jim; Vermeij, Mark JA; Rohwer, Forest L

    2016-01-01

    Coral and algal holobionts are assemblages of macroorganisms and microorganisms, including viruses, Bacteria, Archaea, protists and fungi. Despite a decade of research, it remains unclear whether these associations are spatial–temporally stable or species-specific. We hypothesized that conflicting interpretations of the data arise from high noise associated with sporadic microbial symbionts overwhelming signatures of stable holobiont members. To test this hypothesis, the bacterial communities associated with three coral species (Acropora rosaria, Acropora hyacinthus and Porites lutea) and two algal guilds (crustose coralline algae and turf algae) from 131 samples were analyzed using a novel statistical approach termed the Abundance-Ubiquity (AU) test. The AU test determines whether a given bacterial species would be present given additional sampling effort (that is, stable) versus those species that are sporadically associated with a sample. Using the AU test, we show that coral and algal holobionts have a high-diversity group of stable symbionts. Stable symbionts are not exclusive to one species of coral or algae. No single bacterial species was ubiquitously associated with one host, showing that there is not strict heredity of the microbiome. In addition to the stable symbionts, there was a low-diversity community of sporadic symbionts whose abundance varied widely across individual holobionts of the same species. Identification of these two symbiont communities supports the holobiont model and calls into question the hologenome theory of evolution. PMID:26555246

  19. Mixed Movements

    DEFF Research Database (Denmark)

    Brabrand, Helle

    2010-01-01

    levels than those related to building, and this exploration is a special challenge and competence implicit artistic development work. The project Mixed Movements generates drawing-material, not primary as representation, but as a performance-based media, making the body being-in-the-media felt and appear......Mixed Movements is a research project engaged in performance-based architectural drawing. Architectonic implementation questions relations between the human body and a body of architecture by the different ways we handle drawing materials. A drawing may explore architectonic problems at other...

  20. The subcatchment- and catchment-scale hydrology of a boreal headwater peatland complex with sporadic permafrost.

    Science.gov (United States)

    Sonnentag, O.; Helbig, M.; Connon, R.; Hould Gosselin, G.; Ryu, Y.; Karoline, W.; Hanisch, J.; Moore, T. R.; Quinton, W. L.

    2017-12-01

    The permafrost region of the Northern Hemisphere has been experiencing twice the rate of climate warming compared to the rest of the Earth, resulting in the degradation of the cryosphere. A large portion of the high-latitude boreal forests of northwestern Canada grows on low-lying organic-rich lands with relative warm and thin isolated, sporadic and discontinuous permafrost. Along this southern limit of permafrost, increasingly warmer temperatures have caused widespread permafrost thaw leading to land cover changes at unprecedented rates. A prominent change includes wetland expansion at the expense of Picea mariana (black spruce)-dominated forest due to ground surface subsidence caused by the thawing of ice-rich permafrost leading to collapsing peat plateaus. Recent conceptual advances have provided important new insights into high-latitude boreal forest hydrology. However, refined quantitative understanding of the mechanisms behind water storage and movement at subcatchment and catchment scales is needed from a water resources management perspective. Here we combine multi-year daily runoff measurements with spatially explicit estimates of evapotranspiration, modelled with the Breathing Earth System Simulator, to characterize the monthly growing season catchment scale ( 150 km2) hydrological response of a boreal headwater peatland complex with sporadic permafrost in the southern Northwest Territories. The corresponding water budget components at subcatchment scale ( 0.1 km2) were obtained from concurrent cutthroat flume runoff and eddy covariance evapotranspiration measurements. The highly significant linear relationships for runoff (r2=0.64) and evapotranspiration (r2=0.75) between subcatchment and catchment scales suggest that the mineral upland-dominated downstream portion of the catchment acts hydrologically similar to the headwater portion dominated by boreal peatland complexes. Breakpoint analysis in combination with moving window statistics on multi

  1. Striking movements

    DEFF Research Database (Denmark)

    Dahl, Sofia

    2011-01-01

    Like all music performance, percussion playing requires high control over timing and sound properties. Specific to percussionists, however, is the need to adjust the movement to different instruments with varying physical properties and tactile feedback to the player. Furthermore, the well define...

  2. Psychodynamic Movement

    DEFF Research Database (Denmark)

    Pedersen, Inge Nygaard

    2002-01-01

    This chapter/article describes the historical development of the disciplin Psychodynamic Movement. The importance of this disciplin for self-experience and for training in developing a therapist identy for the music therapy students are emphasized. Prototypeexercises developed and simplified...

  3. Generation of a human induced pluripotent stem cell line (CSC-42 from a patient with sporadic form of Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Ekaterina Savchenko

    2018-03-01

    Full Text Available Skin fibroblasts were collected from a 44-year-old patient with sporadic case of Parkinson's disease (PD. The non-integrating Sendai virus vector encoding OCT3/4, SOX2, c-MYC and KLF4 was used to reprogram fibroblasts into induced pluripotent stem cells (iPSCs. Generated iPSCs had normal karyotypes, expressed common stem cell markers, and were capable of differentiating into all three germ layers. Generated line could be used for PD modeling to understand the mechanisms that influence the disorder.

  4. Movement disorders secondary to long-term treatment with cyclosporine A Transtornos do movimento secundários ao tratamento prolongado com ciclosporina A

    Directory of Open Access Journals (Sweden)

    Renato P. Munhoz

    2005-09-01

    Full Text Available OBJECTIVE: To analyze the prevalence, severity and functional interference of movement disorders (MD secondary to chronic use of cyclosporine A (CsA. METHOD: We conducted a cross-sectional study of 60 patients (58.3% male with mean age 23.1 (3-75 years, followed at the Bone Marrow Transplantation Service of the Hospital de Clínicas of the Federal University of Paraná, Brazil, taking CsA for at least six months. Our protocol included clinical data, assessment of functional interference of symptoms and neurological examination including observation and grading of MD. RESULTS: Eight (13.3% subjects reported the presence of tremor at the moment of interview and 29 (48.3% recalled this symptom at some point during treatment. Neurological examination identified 14 (23.3% subjects with MD: upper limb symmetric action tremor in 13 (21.6% and parkinsonism (rigidity and bradykinesia in 1 (1.7%. No other MD was detected. The mean scores indicated mild clinical signs in all cases. Symptoms were considered subjectively mild with no functional interference. CONCLUSION: Almost one quarter of patients using CsA chronically presented MD, almost always mild and transitory action tremor, with minimal interference on daily living activities, not requiring any form of intervention in the majority of cases.OBJETIVO: Analisar a prevalência, gravidade e interferência funcional de transtornos do movimento (TM secundários ao uso crônico de ciclosporina A (CsA. MÉTODO: Realizamos um estudo transversal em 60 pacientes (58.3% do sexo masculino com idade média de 23.1 (3-75 anos, acompanhados pelo Serviço de Transplante de Medula Óssea do Hospital de Clínicas da Universidade Federal do Paraná, usando CsA por pelo menos seis meses. A avaliação incluiu dados clínicos, interferência funcional de possíveis sintomas e exame neurológico incluindo observação e graduação de TM. RESULTADOS: Oito (13.3% entrevistados relataram tremor no momento da entrevista e 29

  5. Effectiveness of Eye Movement Desensitization and Reprocessing(EMDR to Reduce the Severity of Symptoms of Post-Traumatic Stress Disorder and Stuttering With Psychological Origin(Case Study in Child with Four Years Old

    Directory of Open Access Journals (Sweden)

    Azam Hashemian Moghadam

    2017-02-01

    Full Text Available Abstract Background: The present research aimed to measure the effectiveness of Eye Movement Desensitization and Reprocessing (EMDR on reducing the severity of symptoms of post-traumatic Stress Disorder (PTSD and Stuttering in a four-year-old child post-traumatic stress disorder in children is one of the disorders relating to trauma and stressful factors, also, stutterring or word fluency disorder is a nerve growth disorder. Materials and Methods: This research design was conducted as a case study with a multiple baseline design. Participant in this research was a four-year- old child with Diagnostic Posttraumatic Stress Disorder and Psychogenic Stuttering. He had been placed under the intervention with EMDR at Shahid Birjand Counseling Center. The instruments used for this research included demographic researcher-made questionnaire, the third edition of stuttering severity test, the scale of parents’ report of post-traumatic Symptoms and child’s report of posttraumatic Symptoms. Data analysis was done through graphic and descriptive analysis. The data was collected as base line and during the treatment as well as after the treatment and follow-up (in terms of 3 and 24 months. Results: Means percentage improvement (MPI to reducing the severity of post-traumatic symptoms was achieved as %74.66 and it was %56.06 for reduction of the severity of stuttering and they continued to maintain in the follow-up period. Conclusion: Results showed that EMDR method had affected on reduction of the severity of post-traumatic stress disorder symptoms and stuttering intensity.

  6. Application of quantitative DTI metrics in sporadic CJD

    Directory of Open Access Journals (Sweden)

    E. Caverzasi

    2014-01-01

    Full Text Available Diffusion Weighted Imaging is extremely important for the diagnosis of probable sporadic Jakob–Creutzfeldt disease, the most common human prion disease. Although visual assessment of DWI MRI is critical diagnostically, a more objective, quantifiable approach might more precisely identify the precise pattern of brain involvement. Furthermore, a quantitative, systematic tracking of MRI changes occurring over time might provide insights regarding the underlying histopathological mechanisms of human prion disease and provide information useful for clinical trials. The purposes of this study were: 1 to describe quantitatively the average cross-sectional pattern of reduced mean diffusivity, fractional anisotropy, atrophy and T1 relaxation in the gray matter (GM in sporadic Jakob–Creutzfeldt disease, 2 to study changes in mean diffusivity and atrophy over time and 3 to explore their relationship with clinical scales. Twenty-six sporadic Jakob–Creutzfeldt disease and nine control subjects had MRIs on the same scanner; seven sCJD subjects had a second scan after approximately two months. Cortical and subcortical gray matter regions were parcellated with Freesurfer. Average cortical thickness (or subcortical volume, T1-relaxiation and mean diffusivity from co-registered diffusion maps were calculated in each region for each subject. Quantitatively on cross-sectional analysis, certain brain regions were preferentially affected by reduced mean diffusivity (parietal, temporal lobes, posterior cingulate, thalamus and deep nuclei, but with relative sparing of the frontal and occipital lobes. Serial imaging, surprisingly showed that mean diffusivity did not have a linear or unidirectional reduction over time, but tended to decrease initially and then reverse and increase towards normalization. Furthermore, there was a strong correlation between worsening of patient clinical function (based on modified Barthel score and increasing mean diffusivity.

  7. Antinuclear movement

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Young Hee; Im, Jaeg Yeong

    1988-08-15

    This book is for antinuclear movement. So, this book introduces many articles on nuclear issues of Asia and the pacific area. The titles of articles are the crusades of Reagan by Werner Plaha, contending between super powers in Europe by Alva Reimer Myrdal, claims of resistance by Daniel Ellsberg, nuclear and the Korean Peninsula by Go, Seung Woo, Liberation but of belief of nuclear weapon by Lee, Young Hee and nuclear weapon in Korea by peter Haze.

  8. The scoring of movements in sleep.

    Science.gov (United States)

    Walters, Arthur S; Lavigne, Gilles; Hening, Wayne; Picchietti, Daniel L; Allen, Richard P; Chokroverty, Sudhansu; Kushida, Clete A; Bliwise, Donald L; Mahowald, Mark W; Schenck, Carlos H; Ancoli-Israel, Sonia

    2007-03-15

    The International Classification of Sleep Disorders (ICSD-2) has separated sleep-related movement disorders into simple, repetitive movement disorders (such as periodic limb movements in sleep [PLMS], sleep bruxism, and rhythmic movement disorder) and parasomnias (such as REM sleep behavior disorder and disorders of partial arousal, e.g., sleep walking, confusional arousals, night terrors). Many of the parasomnias are characterized by complex behaviors in sleep that appear purposeful, goal directed and voluntary but are outside the conscious awareness of the individual and therefore inappropriate. All of the sleep-related movement disorders described here have specific polysomnographic findings. For the purposes of developing and/or revising specifications and polysomnographic scoring rules, the AASM Scoring Manual Task Force on Movements in Sleep reviewed background literature and executed evidence grading of 81 relevant articles obtained by a literature search of published articles between 1966 and 2004. Subsequent evidence grading identified limited evidence for reliability and/or validity for polysomnographic scoring criteria for periodic limb movements in sleep, REM sleep behavior disorder, and sleep bruxism. Published scoring criteria for rhythmic movement disorder, excessive fragmentary myoclonus, and hypnagogic foot tremor/alternating leg muscle activation were empirical and based on descriptive studies. The literature review disclosed no published evidence defining clinical consequences of excessive fragmentary myoclonus or hypnagogic foot tremor/alternating leg muscle activation. Because of limited or absent evidence for reliability and/or validity, a standardized RAND/UCLA consensus process was employed for recommendation of specific rules for the scoring of sleep-associated movements.

  9. Imaging and clinical characteristics of sporadic Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    HAN Shun-chang

    2013-04-01

    Full Text Available Five patients with sporadic Creutzfeldt-Jakob disease (sCJD presented rapidly progressive dementia which were subacute onset from 1 to 4 months. Among these cases, periodic synchronous discharge (PSD of electroencephalography (EEG was seen in 2 patients. Besides, 4 patients obtained positive results in cerebrospinal fluid (CSF analysis for 14-3-3 protein. The cranial MRI examination showed symmetrical or asymmetrical colored-ribbon-shaped high signals in cerebral cortex or basal ganglia by diffusion weighted imaging (DWI, suggesting that DWI had high sensitivity and specificity for the diagnosis of sCJD as a preferred method in the clinical examination of sCJD.

  10. Diffusion MR imaging in sporadic Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    Burcak Cakir Pekoz

    2014-08-01

    Full Text Available Creutzfeldt-Jakob disease (CJD is a rare dementing disease and is thought to caused by a prion. It is characterized by rapidly progressive dementia, ataxia, myoclonus, akinetic mutism and eventual death. Brain biopsy or autopsy is required for a definitive diagnosis of CJD. Diffusion-weighted imaging became an important tool for early diagnosis of CJD because of the high sensitivity. We present 59-year-old female patient diagnosed as sporadic CJD with typical MR imagings. [Cukurova Med J 2014; 39(4.000: 880-883

  11. The monster sporadic group and a theory underlying superstring models

    International Nuclear Information System (INIS)

    Chapline, G.

    1996-09-01

    The pattern of duality symmetries acting on the states of compactified superstring models reinforces an earlier suggestion that the Monster sporadic group is a hidden symmetry for superstring models. This in turn points to a supersymmetric theory of self-dual and anti-self-dual K3 manifolds joined by Dirac strings and evolving in a 13 dimensional spacetime as the fundamental theory. In addition to the usual graviton and dilaton this theory contains matter-like degrees of freedom resembling the massless states of the heterotic string, thus providing a completely geometric interpretation for ordinary matter. 25 refs

  12. Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases.

    Science.gov (United States)

    Chong, Michael; O'Donnell, Martin; Thijs, Vincent; Dans, Antonio; López-Jaramillo, Patricio; Gómez-Arbeláez, Diego; Mondo, Charles; Czlonkowska, Anna; Skowronska, Marta; Oveisgharan, Shahram; Yusuf, Salim; Paré, Guillaume

    2017-08-01

    Mendelian strokes are rare genetic disorders characterized by early-onset small-vessel stroke. Although extensively studied among families with syndromic features, whether these genes affect risk among sporadic cases is unknown. We sequenced 8 genes responsible for Mendelian stroke in a case-control study of sporadic stroke cases (≤70 years). Participants included 1251 primary stroke cases of small-vessel pathology (637 intracerebral hemorrhage and 614 small-vessel ischemic stroke cases) and 1716 controls from the INTERSTROKE study (Study of the Importance of Conventional and Emerging Risk Factors of Stroke in Different Regions and Ethnic Groups of the World). Overall, the prevalence of canonical disease-causing mutations was 0.56% in cases and 0.23% in controls (odds ratio=1.89; 95% confidence interval, 0.54-7.57; P =0.33). CADASIL (Cerebral Autosomal Dominant Arteriopathies with Subcortical Infarcts and Leukoencephalopathies) mutations were more frequent among cases (0.48%) than controls (0.23%) but were not significantly associated with stroke risk (odds ratio=2.03; 95% confidence interval, 0.58-8.02; P =0.27). Next, we included all rare nonsynonymous mutations to investigate whether other types of mutations may contribute to stroke risk. Overall, 13.5% of cases and 14.2% of controls were carriers of at least one rare nonsynonymous mutation among the 8 Mendelian stroke genes. Mutation carriers were not at elevated risk of stroke (odds ratio=0.93; 95% confidence interval, 0.75-1.16; P =0.55). In the absence of syndromic features and family history of stroke, screening for Mendelian mutations among small-vessel stroke patients is unlikely to have high diagnostic utility. © 2017 American Heart Association, Inc.

  13. Computational movement analysis

    CERN Document Server

    Laube, Patrick

    2014-01-01

    This SpringerBrief discusses the characteristics of spatiotemporal movement data, including uncertainty and scale. It investigates three core aspects of Computational Movement Analysis: Conceptual modeling of movement and movement spaces, spatiotemporal analysis methods aiming at a better understanding of movement processes (with a focus on data mining for movement patterns), and using decentralized spatial computing methods in movement analysis. The author presents Computational Movement Analysis as an interdisciplinary umbrella for analyzing movement processes with methods from a range of fi

  14. A cross-sectional survey and cross-sectional clinical trial to determine the prevalence and management of eye movement disorders and vestibular dysfunction in post-stroke patients in the sub-acute phase: protocol

    Directory of Open Access Journals (Sweden)

    Andoret Van Wyk

    2016-09-01

    Full Text Available Introduction: Visual impairment, specifically eye movement disorders and vestibular dysfunction may have a negative influence on the functional recovery in post stroke patients. This type of sensory dysfunction may further be associated with poor functional outcome in patients post stroke.Methods: In phase 1 a cross-sectional survey (n = 100 will be conducted to determine the prevalence of eye movement disorders and vestibular dysfunction in patients that sustained a stroke. A cross-sectional clinical trial (n = 60 will be conducted during phase 2 of the study to determine the effect of the combination of vestibular rehabilitation therapy (VRT and visual scanning exercises (VSE (experimental group integrated with task-specific activities compared to the effect of task-specific activities as an intervention (control group on patients that present with eye movement impairment and central vestibular dysfunction post-stroke. An audiologist will assess; (a visual acuity (static and dynamic; (b nystagmus; (c; saccadic eye movements; (d smooth pursuit eye movements; (e vestibulo-ocular reflex; and (f saccular, utricular and vestibular nerve function. An independent physiotherapist will assess; (1 cognitive function; (2 residual oculomotor visual performance; (3 visual-perceptual system; (4 functional balance; (5 a patient’s ability to modify gait in response to changing task demands; (6 functional ability; and (7 presence of anxiety and/or depression and (8 level of participation in physical activity. Ethics and dissemination: Ethics approval has been obtained from the Ethics Committee of the Faculty of Health Sciences at the University of Pretoria (UP (374/2015. The study will be submitted as fulfilment for the PhD degree at UP. Dissemination will include submission to peer-reviewed professional journals and presentation at congresses. Training of rehabilitation team members on the integration of VSE and VRT into task-specific activities in

  15. Slower Dynamics and Aged Mitochondria in Sporadic Alzheimer's Disease

    Science.gov (United States)

    Gargini, Ricardo; García, Esther; Perry, George

    2017-01-01

    Sporadic Alzheimer's disease corresponds to 95% of cases whose origin is multifactorial and elusive. Mitochondrial dysfunction is a major feature of Alzheimer's pathology, which might be one of the early events that trigger downstream principal events. Here, we show that multiple genes that control mitochondrial homeostasis, including fission and fusion, are downregulated in Alzheimer's patients. Additionally, we demonstrate that some of these dysregulations, such as diminished DLP1 levels and its mitochondrial localization, as well as reduced STOML2 and MFN2 fusion protein levels, take place in fibroblasts from sporadic Alzheimer's disease patients. The analysis of mitochondrial network disruption using CCCP indicates that the patients' fibroblasts exhibit slower dynamics and mitochondrial membrane potential recovery. These defects lead to strong accumulation of aged mitochondria in Alzheimer's fibroblasts. Accordingly, the analysis of autophagy and mitophagy involved genes in the patients demonstrates a downregulation indicating that the recycling mechanism of these aged mitochondria might be impaired. Our data reinforce the idea that mitochondrial dysfunction is one of the key early events of the disease intimately related with aging. PMID:29201274

  16. Pest Movement

    Directory of Open Access Journals (Sweden)

    Rod Bhar

    1998-12-01

    Full Text Available Maintenance of woody borders surrounding crop fields is desirable for biodiversity conservation. However, for crop pest management, the desirability of woody borders depends on the trade-off between their effects at the local field scale and the landscape scale. At the local scale, woody borders can reduce pest populations by increasing predation rates, but they can also increase pest populations by providing complementary habitats and reducing movement rate of pests out of crop fields. At the regional scale, woody borders can reduce pest populations by reducing colonization of newly planted crop fields. Our objective was to develop guidelines for maximizing pest control while maintaining woody borders in the landscape. We wished to determine the conditions under which the regional effect of borders on colonization can outweigh local enhancement effects of borders on pest populations. We built a stochastic, individual-based, spatially implicit simulation model of a specialist insect population in a landscape divided into a number of crop fields. We conducted simulations to determine the conditions under which woody borders enhance vs. reduce the regional pest population size. The following factors were considered: landscape fragmentation, crop rotation period, barrier effect of woody borders, disperser success rate, and effect of woody borders on local survival. The simulation results suggest that woody borders are most likely to enhance regional control of crop pests if (1 the woody borders are very effective in reducing insect movement from one crop field to another, and (2 crop rotation is on a very short cycle. Based on these results, our preliminary recommendations are that woody borders should contain dense, tall vegetation to reduce insect movement, and crops should be rotated on as short a cycle as possible. These conditions should ensure that woody borders can be maintained for their conservation value without enhancing crop pest

  17. Comparison Study of Polysomnographic Features in Multiple System Atrophy-cerebellar Types Combined with and without Rapid Eye Movement Sleep Behavior Disorder

    Directory of Open Access Journals (Sweden)

    Yan Ding

    2016-01-01

    Conclusions: In addition to the RBD, MSA-C patients with RBD had other more severe sleep disturbances than those without RBD. The sleep disorders of MSA patients might be associated with the progress of the disease.

  18. Social disorder and diagnostic order: the US Mental Hygiene Movement, the Midtown Manhattan study and the development of psychiatric epidemiology in the 20th century

    OpenAIRE

    March, Dana; Oppenheimer, Gerald M

    2014-01-01

    Recent scholarship regarding psychiatric epidemiology has focused on shifting notions of mental disorders. In psychiatric epidemiology in the last decades of the 20th century and the first decade of the 21st century, mental disorders have been perceived and treated largely as discrete categories denoting an individual’s mental functioning as either pathological or normal. In the USA, this grew partly out of evolving modern epidemiological work responding to the State’s commitment to measure t...

  19. Response inhibition deficits in children with Fetal Alcohol Spectrum Disorder: Relationship between diffusion tensor imaging of the corpus callosum and eye movement control

    OpenAIRE

    Angelina Paolozza; Sarah Treit; Christian Beaulieu; James N. Reynolds

    2014-01-01

    Response inhibition is the ability to suppress irrelevant impulses to enable goal-directed behavior. The underlying neural mechanisms of inhibition deficits are not clearly understood, but may be related to white matter connectivity, which can be assessed using diffusion tensor imaging (DTI). The goal of this study was to investigate the relationship between response inhibition during the performance of saccadic eye movement tasks and DTI measures of the corpus callosum in children with or wi...

  20. A prospective questionnaire study in 100 healthy sleepers: non-bothersome forms of recognizable sleep disorders are still present.

    Science.gov (United States)

    Frauscher, Birgit; Mitterling, Thomas; Bode, Aleke; Ehrmann, Laura; Gabelia, David; Biermayr, Marlene; Walters, Arthur Scott; Poewe, Werner; Högl, Birgit

    2014-06-15

    Despite several polysomnographic normative studies and multiple surveys of sleep disorders in the general population, few data have been collected on healthy sleepers. We aimed to survey the characteristics of healthy sleep. We prospectively investigated the sleep history of 100 subjects of a representative population sample who reported undisturbed sleep and in whom relevant sleep disorders were ruled out by a two-step screening procedure. Approximately four subjects had to be contacted for identifying 1 eligible subject who participated. The median reported time in bed was from 23:00 (21:30-02:00) to 07:00 (05:30-11:00). The total sleep duration was 7.3 h (5-10 h), varying from 7.5 h in the age group ≤ 30 years to 7 h in subjects aged 40-60 years and to 8 h in subjects > 60 years (p = 0.002). The median sleep efficiency was high (93.3%, range: 55.6% to 100%). Fifty-one subjects reported occasional snoring. Forty-five subjects reported sporadic non-bothersome sleep-related movement disorders (25 sleep-related leg cramps, 22 lifetime bruxism, 5 restless legs syndrome), and 36 had a history of sporadic non-bothersome parasomnias (27 nightmares, 12 sleepwalking, 1 sleep paralysis). In this population of healthy sleepers, snoring is the most common finding. Moreover, non-bothersome forms of recognizable sleep-related movement disorders and parasomnias are surprisingly common. These findings may suggest that diagnostic criteria of sleep disorders should not only be based on the presence of symptoms but also account for a minimum frequency or discomfort.

  1. BRCAness profile of sporadic ovarian cancer predicts disease recurrence.

    Directory of Open Access Journals (Sweden)

    Weiya Z Wysham

    Full Text Available The consequences of defective homologous recombination (HR are not understood in sporadic ovarian cancer, nor have the potential role of HR proteins other than BRCA1 and BRCA2 been clearly defined. However, it is clear that defects in HR and other DNA repair pathways are important to the effectiveness of current therapies. We hypothesize that a subset of sporadic ovarian carcinomas may harbor anomalies in HR pathways, and that a BRCAness profile (defects in HR or other DNA repair pathways could influence response rate and survival after treatment with platinum drugs. Clinical availability of a BRCAness profile in patients and/or tumors should improve treatment outcomes.To define the BRCAness profile of sporadic ovarian carcinoma and determine whether BRCA1, PARP, FANCD2, PTEN, H2AX, ATM, and P53 protein expression correlates with response to treatment, disease recurrence, and recurrence-free survival.Protein microarray analysis of ovarian cancer tissue was used to determine protein expression levels for defined DNA repair proteins. Correlation with clinical and pathologic parameters in 186 patients with advanced stage III-IV and grade 3 ovarian cancer was analyzed using Chi square, Kaplan-Meier method, Cox proportional hazard model, and cumulative incidence function.High PARP, FANCD2 and BRCA1 expressions were significantly correlated with each other; however, elevated p53 expression was associated only with high PARP and FANCD2. Of all patients, 9% recurred within the first year. Among early recurring patients, 41% had high levels of PARP, FANCD2 and P53, compared to 19.5% of patients without early recurrence (p = 0.04. Women with high levels of PARP, FANCD2 and/or P53 had first year cumulative cancer incidence of 17% compared with 7% for the other groups (P = 0.03.Patients with concomitantly high levels of PARP, FANCD2 and P53 protein expression are at increased risk of early ovarian cancer recurrence and platinum resistance.

  2. Aberrant gene promoter methylation associated with sporadic multiple colorectal cancer.

    Directory of Open Access Journals (Sweden)

    Victoria Gonzalo

    Full Text Available BACKGROUND: Colorectal cancer (CRC multiplicity has been mainly related to polyposis and non-polyposis hereditary syndromes. In sporadic CRC, aberrant gene promoter methylation has been shown to play a key role in carcinogenesis, although little is known about its involvement in multiplicity. To assess the effect of methylation in tumor multiplicity in sporadic CRC, hypermethylation of key tumor suppressor genes was evaluated in patients with both multiple and solitary tumors, as a proof-of-concept of an underlying epigenetic defect. METHODOLOGY/PRINCIPAL FINDINGS: We examined a total of 47 synchronous/metachronous primary CRC from 41 patients, and 41 gender, age (5-year intervals and tumor location-paired patients with solitary tumors. Exclusion criteria were polyposis syndromes, Lynch syndrome and inflammatory bowel disease. DNA methylation at the promoter region of the MGMT, CDKN2A, SFRP1, TMEFF2, HS3ST2 (3OST2, RASSF1A and GATA4 genes was evaluated by quantitative methylation specific PCR in both tumor and corresponding normal appearing colorectal mucosa samples. Overall, patients with multiple lesions exhibited a higher degree of methylation in tumor samples than those with solitary tumors regarding all evaluated genes. After adjusting for age and gender, binomial logistic regression analysis identified methylation of MGMT2 (OR, 1.48; 95% CI, 1.10 to 1.97; p = 0.008 and RASSF1A (OR, 2.04; 95% CI, 1.01 to 4.13; p = 0.047 as variables independently associated with tumor multiplicity, being the risk related to methylation of any of these two genes 4.57 (95% CI, 1.53 to 13.61; p = 0.006. Moreover, in six patients in whom both tumors were available, we found a correlation in the methylation levels of MGMT2 (r = 0.64, p = 0.17, SFRP1 (r = 0.83, 0.06, HPP1 (r = 0.64, p = 0.17, 3OST2 (r = 0.83, p = 0.06 and GATA4 (r = 0.6, p = 0.24. Methylation in normal appearing colorectal mucosa from patients with multiple and solitary CRC showed no relevant

  3. A review on eye movement studies in childhood and adolescent psychiatry.

    NARCIS (Netherlands)

    Lambregts-Rommelse, N.N.J.; Stigchel, S. van der; Sergeant, J.A.

    2008-01-01

    The neural substrates of eye movement measures are largely known. Therefore, measurement of eye movements in psychiatric disorders may provide insight into the underlying neuropathology of these disorders. Visually guided saccades, antisaccades, memory guided saccades, and smooth pursuit eye

  4. A review on eye movement studies in childhood and adolescent psychiatry

    NARCIS (Netherlands)

    Rommelse, N.N.J.; van der Stigchel, S.; Sergeant, J.A.

    2008-01-01

    The neural substrates of eye movement measures are largely known. Therefore, measurement of eye movements in psychiatric disorders may provide insight into the underlying neuropathology of these disorders. Visually guided saccades, antisaccades, memory guided saccades, and smooth pursuit eye

  5. A Unifying Hypothesis for Familial and Sporadic Alzheimer's Disease

    Directory of Open Access Journals (Sweden)

    Carole J. Proctor

    2012-01-01

    Full Text Available Alzheimer's disease (AD is characterised by the aggregation of two quite different proteins, namely, amyloid-beta (Aβ, which forms extracellular plaques, and tau, the main component of cytoplasmic neurofibrillary tangles. The amyloid hypothesis proposes that Aβ plaques precede tangle formation but there is still much controversy concerning the order of events and the linkage between Aβ and tau alterations is still unknown. Mathematical modelling has become an essential tool for generating and evaluating hypotheses involving complex systems. We have therefore used this approach to discover the most probable pathway linking Aβ and tau. The model supports a complex pathway linking Aβ and tau via GSK3β, p53, and oxidative stress. Importantly, the pathway contains a cycle with multiple points of entry. It is this property of the pathway which enables the model to be consistent with both the amyloid hypothesis for familial AD and a more complex pathway for sporadic forms.

  6. Physical function and muscle strength in sporadic inclusion body myositis

    DEFF Research Database (Denmark)

    Jørgensen, Anders N; Aagaard, Per; Nielsen, Jakob L

    2017-01-01

    INTRODUCTION: In this study, self-reported physical function, functional capacity, and isolated muscle function were investigated in sporadic inclusion body myositis (sIBM) patients. METHODS: The 36-item Short Form (SF-36) Health Survey and 2-min walk test (2MWT), timed up & go test (TUG), and 30-s...... chair stand performance were evaluated. In addition, patients were tested for knee extensor muscle strength (isokinetic dynamometer) and leg extension power (Nottingham power rig). RESULTS: TUG performance was the strongest predictor of self-reported physical function (r(2) = 0.56, P ... to sensitively predict self-perceived physical function in sIBM patients. Notably, between-limb asymmetry in lower limb muscle strength had a substantial negative impact on motor tasks involving gait function. Muscle Nerve, 2017....

  7. Sporadic Insulinoma Presenting as Early Morning Night Terrors.

    Science.gov (United States)

    Beisang, Daniel; Forlenza, Gregory P; Luquette, Mark; Sarafoglou, Kyriakie

    2017-06-01

    A 16-year-old boy with a recent diagnosis of night terrors was evaluated for recurrent early morning hypoglycemia after an early morning seizure. Evaluation in clinic with critical laboratories identified hyperinsulinemic hypoglycemia. Additional investigation revealed a sporadic insulinoma as the etiology of his hypoglycemia and all symptoms were resolved after pancreaticoduodenectomy. The importance of obtaining critical laboratory samples is highlighted and appropriate radiologic, medical, and pathologic testing is discussed. We additionally review the medical and surgical management of hyperinsulinemic hypoglycemia. A discussion of multiple endocrine neoplasia type 1 associated insulinomas is included as well. This case highlights the importance of considering hypoglycemia in the evaluation of night terrors and new-onset seizures. Copyright © 2017 by the American Academy of Pediatrics.

  8. Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease.

    Science.gov (United States)

    Bagnoli, Silvia; Nacmias, Benedetta; Tedde, Andrea; Guarnieri, Bianca Maria; Cellini, Elena; Ciantelli, Monica; Petruzzi, Concetta; Bartoli, Antonella; Ortenzi, Luigi; Serio, Antonio; Sorbi, Sandro

    2002-08-16

    A recent study has shown that a genetic variation in the Cathepsin D (catD) gene is a major risk factor for the development of Alzheimer's disease (AD). CatD is an intracellular aspartyl protease involved in neurodegeneration. A C-->T (Ala-->Val) transition at position 224 has been associated with altered intracellular maturation. Recently, a significant overrepresentation of the T allele of the catD gene in AD patients compared with controls was reported. However, this finding has not yet been confirmed. We analyzed the distribution of catD and apolipoprotein E polymorphisms in Italian patients with sporadic and familial AD (FAD). Our studies revealed that the distribution of catD polymorphism did not differ in AD and FAD patients and controls. Thus, our data do not support a role for the catD gene as a genetic risk factor in the development of AD.

  9. Can the Movement Assessment Battery for Children-Test Be the "Gold Standard" for the Motor Assessment of Children with Developmental Coordination Disorder?

    Science.gov (United States)

    Venetsanou, Fotini; Kambas, Antonis; Ellinoudis, Theodoros; Fatouros, Ioannis; Giannakidou, Dimitra; Kourtessis, Thomas

    2011-01-01

    Developmental Coordination Disorder (DCD) is an important risk factor in the development of children that can have a significant academic and social impact. This reinforces the need for its timely identification using appropriate assessment methods and accurate screening tests. The commonly used standardized motor test for the DCD identification…

  10. Imagery rescripting and eye movement desensitisation and reprocessing for treatment of adults with childhood trauma-related post-traumatic stress disorder : IREM study design

    NARCIS (Netherlands)

    Boterhoven de Haan, K.L.; Lee, C.W.; Fassbinder, E.; Voncken, M.J.; Meewisse, M.; Van Es, S.M.; Menninga, S.; Kousemaker, M.; Arntz, A.

    2017-01-01

    BACKGROUND: Post-traumatic stress disorder (PTSD) that originates from childhood trauma experiences can develop into a chronic condition that has lasting effects on an individual's functioning and quality of life. While there are evidence-based guidelines for treating adult onset PTSD, treatments