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Sample records for chorea

  1. Chorea

    Science.gov (United States)

    ... levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents. Is there any treatment? There ... dosages can treat drug-induced chorea. Metabolic and endocrine-related choreas are ... research on movement disorders such as chorea. The goals of this research ...

  2. Chorea and related disorders

    OpenAIRE

    Bhidayasiri, R; Truong, D

    2004-01-01

    Chorea refers to irregular, flowing, non-stereotyped, random, involuntary movements that often possess a writhing quality referred to as choreoathetosis. When mild, chorea can be difficult to differentiate from restlessness. When chorea is proximal and of large amplitude, it is called ballism. Chorea is usually worsened by anxiety and stress and subsides during sleep. Most patients attempt to disguise chorea by incorporating it into a purposeful activity. Whereas ballism is most often encount...

  3. Chorea disclosing a polycythemia vera

    OpenAIRE

    Liu GD; Chang J.; Liu ZJ; Qiang Q; Gu CH; Zhang YY; Wei WS

    2014-01-01

    Guidong Liu, Jie Chang, Zhijun Liu, Qiang Qiang, Chunhui Gu, Yingying Zhang, Wenshi Wei Department of Neurology, Huadong Hospital, Fudan University, Shanghai, People's Republic of China Abstract: Chorea is a rare complication of polycythemia. We report the case of a 70 year-old woman whose polycythemia vera (PV), with Janus Kinase-2 (JAK2) mutation, presented as chorea. Chorea resolved quickly after hydroxyurea therapy. Keywords: chorea, polycythemia vera, elderly, JAK2

  4. Nonketotic Hyperglycemic Chorea

    Directory of Open Access Journals (Sweden)

    Mahmoud Abdelghany

    2014-01-01

    Full Text Available This is a unique case of nonketotic hyperglycemic (NKH chorea in a 34-year-old white male. The patient had a poorly controlled type 2 diabetes mellitus (DM due to medication incompliance. He complained of polyuria, polydipsia, and weight loss of 20 pounds within a month before presentation. T2-weighted (T2W MRI showed hyperintensity in the left basal ganglion. Glycated hemoglobin (HBA1c was 13.6%. The patient was started on insulin and clonazepam and the chorea resolved after proper control of the glucose level. To our knowledge, this is the first reported case of NKH chorea in a young white male with high T2-weighted (T2W magnetic resonance signal in the basal ganglia.

  5. Confidentiality and Huntington's chorea.

    OpenAIRE

    Adams, J.

    1990-01-01

    A doctor has duties towards his patients of both confidentiality and veracity and at times these may conflict, as in the following case. A mother who has the symptoms of Huntington's chorea does not wish her daughters to know. The doctor must try to make her realise how valuable the information can be to the daughters, and thus obtain her consent to inform them. If the mother's consent cannot be obtained, then the doctor must tell the mother that he cannot allow her attitude to deprive the da...

  6. Chorea: A Journey through History

    OpenAIRE

    Vale, Thiago Cardoso; Cardoso, Francisco

    2015-01-01

    The original descriptions of chorea date from the Middle Ages, when an epidemic of “dancing mania” swept throughout Europe. The condition was initially considered a curse sent by a saint, but was named “Saint Vitus’s dance” because afflicted individuals were cured if they touched churches storing Saint Vitus’s relics. Paracelsus coined the term chorea Sancti Viti and recognized different forms of chorea (imaginativa, lasciva, and naturalis). In the 17th century, Thomas Sydenham provided an ac...

  7. Hereditary progressive chorea without dementia.

    OpenAIRE

    Schady, W; Meara, R J

    1988-01-01

    A family with hereditary non-Huntington's chorea is presented. Transmission was autosomal dominant with variable penetrance. Chorea commenced in childhood and affected predominantly the head, face and upper limbs. Dysarthria appeared later, followed in two family members by elements of an axial dystonia. There was no intellectual impairment. Unlike previously described families, symptoms progressed steadily up to the eighth decade, causing considerable physical disability.

  8. The differential diagnosis of chorea

    OpenAIRE

    Wild, E. J.; Tabrizi, S.J.

    2007-01-01

    Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the genetic syndromes that may resemble it, including HDL1-3, inherited prion disease, spinocerebellar ataxias 1, 3 and 17, neuroacanthocytosis, dentatorubro-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders, Wilson's disease, beni...

  9. Genetics Home Reference: chorea-acanthocytosis

    Science.gov (United States)

    ... chorea-acanthocytosis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description ... swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. ...

  10. Essential thrombocythemia: Rare cause of chorea

    Directory of Open Access Journals (Sweden)

    Eswaradass Prasanna Venkatesan

    2014-01-01

    Full Text Available Essential thrombocythemia (ET is a clonal myeloproliferative disorder (MPD, characterized predominantly by a markedly elevated platelet count without known cause. It is rare hematological disorder. In ET clinical picture is dominated by a predisposition to vascular occlusive events and hemorrhages. Headache, transient ischemic attack, stroke, visual disturbances and light headedness are some of the neurological manifestations of ET. Here, we describe a 55 year-old female who presented to us with generalized chorea. On evaluation, she was found to have thrombocytosis. After ruling out the secondary causes of thrombocytosis and other MPD we confirmed diagnosis of ET in her by bone marrow studies. Polycythemia vera (PV another MPD closely related to ET may be present with generalized chorea. There are few case reports of PV presenting as chorea in the literature, but none with ET. We report the first case of ET presenting as generalized chorea.

  11. Tetrabenazine in Huntington’s Disease Chorea

    OpenAIRE

    Shilpa Chitnis; Cherian Abraham Karunapuzha

    2009-01-01

    Huntington’s disease (HD) is a heredodegenerative neurological disorder with chorea and other hyperkinetic movement disorders being part of the disease spectrum. These along with cognitive and neurobehavioral manifestations contribute significantly to patient’s disability. Several classes of drugs have been used to treat the various symptoms of HD. These include typical and atypical neuroleptics along with dopamine depletors for treatment of chorea and antidepressants, GABA agonists, antiepil...

  12. Intracortical inhibition of the motor cortex is normal in chorea

    OpenAIRE

    HANAJIMA, R; Ugawa, Y; Y. Terao; Furubayashi, T.; Machii, K; Shiio, Y.; H. Enomoto; Uesugi, H.; Mochizuki, H.; Kanazawa, I

    1999-01-01

    Intracortical inhibition of the motor cortex was investigated using a paired pulse magnetic stimulation method in 14 patients with chorea caused by various aetiologies (six patients with Huntington's disease, one with chorea acanthocytosis, a patient with systemic lupus erythematosus with a vascular lesion in the caudate, three with senile chorea and three with chorea of unknown aetiology). The time course and amount of inhibition was the same in the patients as in normal su...

  13. The mutation rate to Huntington's chorea

    OpenAIRE

    Shaw, Michael; Caro, Adrian

    1982-01-01

    The problems of estimating the mutation rate to Huntington's chorea, or the proportion of new mutants among all sufferers, are discussed. The available survey data are reviewed. The prevalence of sporadic phenotypes, which include new mutations, is probably less than 2·5%. New mutants probably make up around 0·1% or less of all sufferers.

  14. Chorea in a pregnant woman with rheumatic mitral stenosis.

    Science.gov (United States)

    Fam, Neil P; Chisholm, Robert J

    2003-05-01

    Chorea gravidarum is a rare movement disorder of pregnancy with a broad differential diagnosis. Although often a benign condition, it may indicate underlying acute rheumatic fever, antiphospholipid antibody syndrome or a hypercoagulable state. However, now that rheumatic fever is rare in western countries, chorea gravidarum occurs most commonly in patients with chronic rheumatic heart disease. Heightened awareness of chorea gravidarum and the morbidity of the often associated rheumatic heart disease, particularly in immigrants from developing countries, is essential for early diagnosis and effective management. A case of chorea gravidarum in a woman with rheumatic mitral stenosis is described. The diagnostic approach, pathophysiology and management of this rare condition are discussed. PMID:12772024

  15. Recent advances in the management of choreas

    OpenAIRE

    Burgunder, Jean-Marc

    2013-01-01

    The management of patients with chorea, in particular Huntington’s disease, is a complex task requiring skills in a number of areas. This paper reviews new knowledge on this topic and places it in the context of established procedures. It is focused on Huntington’s disease, since this is the disorder, for which most publications on management have been published in the past few years. Management starts with appropriate diagnosis and differential diagnosis, with the aim of finding disorders wi...

  16. Chorea in the Both Lower Limbs Associated with Nonketotic Hyperglycemia

    Directory of Open Access Journals (Sweden)

    Young-Hee Sung

    2009-10-01

    Full Text Available Hemichorea-hemiballism (HC-HB is a complication of non-ketotic hyperglycemia (NKH; in NKH patients, the frequency of occurrence of HC-HB is greater than that of bilateral chorea. We report the case of a hyperglycemic patient who showed chorea in both the lower limbs. Magnetic resonance imaging (MRI of the brain revealed high signal intensity on T1-weighted images of the bilateral dorsolateral putamen. The abnormal involuntary movements disappeared after oral administration of haloperidol. Our case report that chorea associated with NKH is correlated with the topography of the basal ganglia.

  17. Chorea-acanthocytosis: a case report

    Directory of Open Access Journals (Sweden)

    Thapa L

    2016-02-01

    Full Text Available Lekhjung Thapa,1 Suman Bhattarai,1 Milan P Shrestha,1 Rajesh Panth,2 Dinesh Nath Gongal,3 Upendra Prasad Devkota,31Department of Neurology, 2Department of Pathology, 3Department of Neurosurgery, National Institute of Neurological and Allied Sciences, Kathmandu, Nepal Abstract: Neuroacanthocytosis is a group of rare disorders. We report a 36-year-old right-handed female who presented with gradually progressive abnormal facial movements, generalized weakness, and lower-lip biting starting 4 years ago. On examination, she had lower-lip ulcer, orofacial dyskinesias, and peripheral neuropathy. Her peripheral blood smears showed acanthocytosis and magnetic resonance imaging revealed atrophied head of caudate nuclei and putaminal hyperintensities on T2-weighted and fluid attenuated inversion recovery images. Work-up for autoimmune and metabolic causes was negative. She was diagnosed with chorea-acanthocytosis, an entity under neuroacanthocytosis syndrome and the patient was offered symptomatic treatment. Keywords: acanthocytes, lip-biting, neuroacanthocytosis, orofacial dyskinesia, movement disorder

  18. Functional Impact of Sydenham's Chorea: A Case Report

    OpenAIRE

    Gimeno, Hortensia; Barry, Sinead; Lin, Jean-Pierre; Gordon, Anne

    2013-01-01

    Background Sydenham's chorea (SC) is the most common type of acquired chorea in childhood. In some cases, symptoms (most commonly described in terms of neurological signs) last up to 2 years, and many cases relapse. This report describes the clinical course in terms of functional abilities following diagnosis of SC. Case report Standardized assessments across the domains of activity and participation were administered following diagnosis, prior to and following treatment with haloperidol to m...

  19. Genetic prediction and family structure in Huntington's chorea.

    OpenAIRE

    P.S. Harper; Sarfarazi, M

    1985-01-01

    A deoxyribonucleic acid marker linked to the locus for Huntington's chorea exists, but its possible use in the prediction of this disorder depends on the pedigree structure of individual families. Analysis of data from a population register for Huntington's chorea in south Wales showed that only a minority of subjects at risk had the appropriate members of their family living to allow the presence or absence of the gene to be definitively predicted. However, the structure of the family allowe...

  20. The high frequency of juvenile Huntington's chorea in South Africa

    OpenAIRE

    Hayden, M R; Macgregor, J M; Saffer, D S; Beighton, P H

    1982-01-01

    During a national investigation concerning all patients with Huntington's chorea in South Africa, 17 affected children, comprising 7·7% of the patients in the survey, were identified. Although the frequency of juvenile Huntington's chorea in the white community was equal to that reported from around the world, the frequency was much higher in the population of mixed ancestry. It is possible that this unique situation is related to the genetic constitution of this latter group.

  1. Chorea associated with anti-phospholipid antibodies: case report.

    Science.gov (United States)

    Demonty, J; Gonce, M; Ribai, P; Verellen-Dumoulin, C; Hustinx, R

    2010-01-01

    A seventeen year-old boy developed left sided chorea in a few days, subsequently involving the four limbs. Although he presented a marfanoid phenotype, genetic analysis of the Fibrillin 1 was normal. The genes for familial chorea and Huntington's disease were also negative. Biological tests showed normal serum homocystein, but revealed very high levels of anti-beta2-GP1 IgG, anticardiolipin and lupus anticoagulant, which remained at similar values for a period of over three months. Electroencephalogram and cerebral magnetic resonance imaging (MRI) showed no abnormalities. Brain PET-scan disclosed bilateral striatal hypermetabolism. The patient was treated with methylprednisolone and low dose of acetylsalicylic acid. He improved markedly after six weeks of treatment, and choreic movements disappeared completely after two months. A control PET-scan performed at this time showed reversion of striated hypermetabolism to a normal pattern. The pathogenic aspects of this relatively rare case of chorea are discussed. PMID:21128564

  2. What is new in tics, dystonia and chorea?

    Science.gov (United States)

    Macerollo, Antonella; Martino, Davide

    2016-08-01

    Movement disorders comprise hyperkinetic involuntary movements (eg tremor, myoclonus, tics, dystonia and chorea) and hypokinetic (parkinsonism) disorders. Tics are cardinal features of primary tic disorders encompassing Tourette syndrome (TS), but are also found in some neurodegenerative conditions and may be induced by psychoactive substances. The first line treatment for tics is pharmacological (mainly dopamine receptor blockers or alpha-2 adrenergic agonists) and behavioural. Dystonia and chorea syndromes are considerably heterogeneous in aetiology, and age at onset, body distribution of the movement disorder, accompanying neurological motor and non-motor features, and systemic manifestations are all important to reach a correct aetiological diagnosis. While symptomatic pharmacological treatment remains the mainstay of treatment for choreas, deep brain stimulation surgery has a well-defined place in the management of medically refractory dystonia.

  3. A Case of Senile Chorea: Considering Huntington’s Disease and Neuroacanthocytosis in differential diagnosis

    OpenAIRE

    Ayşe Deniz Elmalı; Ayşegül Gündüz; Zafer Başlar; Fatoş Sibel Ertan

    2015-01-01

    Sporadic chorea presenting after the age of 50 is called “senile chorea”. Senile chorea is a rare entity with a wide differential diagnosis list. Causes of senile chorea include vascular and metabolic diseases, adverse events related to medications, hematologic and immune system diseases, genetic and sporadic neurodegenerative syndromes, and paraneoplastic disorders. Although the most common etiologies are vascular and metabolic disorders, neuroacanthocytosis, Wilson and Huntington diseases a...

  4. Cerebral metabolism of glucose in benign hereditary chorea

    International Nuclear Information System (INIS)

    Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by chorea of early onset with little or no progression. There is marked clinical variability in this disease with some subjects having onset in infancy and others with onset in early adulthood. In contrast to Huntington's disease (HD), there is no dementia. Computed tomography is normal in all subjects with no evidence of caudate nucleus atrophy. We present the results of positron emission tomography using 18F-2-fluorodeoxyglucose on three patients with this disorder from two families. Cerebral glucose metabolism in one patient was decreased in the caudate nucleus, as previously reported in HD. The other two persons from a second family showed a relative decrease in metabolic rates of glucose in the caudate when compared with the thalamus. It appears that caudate hypometabolism is not specific for HD. These findings suggest that the caudate nucleus may play a significant role in the pathophysiology of some persons with BHC

  5. Clinics in diagnostic imaging (166). Nonketotic hyperglycaemic chorea-hemiballismus.

    Science.gov (United States)

    Goh, Lin Wah; Chinchure, Dinesh; Lim, Tze Chwan

    2016-03-01

    A 68-year-old woman with poorly controlled diabetes mellitus presented to the emergency department with choreoathetoid movements affecting the upper and lower left limbs. Computed tomography of the brain did not show any intracranial abnormalities. However, subsequent magnetic resonance (MR) imaging of the brain revealed an increased T1 signal in the right basal ganglia, raising the suspicion of nonketotic hyperglycaemic chorea-hemiballismus. Management consisted of adjusting her insulin dose to achieve good glycaemic control. The patient subsequently recovered and was discharged after eight days. There are many causes of basal ganglia T1 hyperintensity, including hyperglycaemia in patients with poorly controlled diabetes mellitus. This case emphasises the importance of MR imaging in the early diagnosis of hyperglycaemia as a cause of chorea-hemiballismus, to enable early treatment and a better clinical outcome. PMID:26996977

  6. Ethics of a predictive test for Huntington's chorea.

    OpenAIRE

    Thomas, S.

    1982-01-01

    "Index Medicus" and 18 other publications have been consulted in an attempt to provide an easily assimilated selection of the recently published and widely dispersed material relevant to the ethical debate the editors of the "BMJ" called for on 4 March 1978. The medical profession is shown to be deeply divided on the ethics of a predictive test for Huntington's chorea. Some members are already using the prospect of a reliable test as an inducement to potential transmitters of this incurable h...

  7. Huntington's chorea in South Wales: mutation, fertility, and genetic fitness.

    OpenAIRE

    Walker, D. A.; P.S. Harper; Newcombe, R G; Davies, K.

    1983-01-01

    A study of mutation, biological fitness, and patterns of family building in Huntington's chorea has been carried out, based on a previously reported population study of the disorder in South Wales. No unequivocal new mutation was identified among 101 kindreds containing 418 affected persons, which supports the extreme rarity of mutation in this disorder. Increased values of fertility and fitness were found, both in relation to unaffected relatives and to the general population of the area. Th...

  8. A genetic register for Huntington's chorea in South Wales.

    OpenAIRE

    P.S. Harper; Tyler, A; Smith, S.; P Jones; Newcombe, R G; McBroom, V

    1982-01-01

    A regional genetic register for Huntington's chorea in South Wales is described, based on previous family studies in this area, which is one of high prevalence for the disorder. The primary role of the register is to help in the efficient delivery of services, including genetic counselling, to affected subjects and relatives, and to monitor changes in the population at risk. The mode of operation of the register is described and the essential importance of strict confidentiality is stressed.

  9. Homovanilic acid in Huntington's disease and Sydenham's chorea.

    OpenAIRE

    Cunha, L.; C. R. Oliveira; Diniz, M.; Amaral, R; Conçalves, A F; Pio-Abreu, J

    1981-01-01

    Homovanilic acid (HVA) was determined in the lumbar CSF of 12 patients with Huntington's disease and 12 with Sydenham's chorea before and after probenecid administration. The means of HVA concentration (basal and after probenecid) were lower in those with Huntington's disease than in controls, and were even lower in a sub-group characterised by increased tone and slowness of voluntary movement. There was no correlation between CSF HVA values and the severity of abnormal movements, nor with le...

  10. Brainstem reflexes and brainstem auditory evoked responses in Huntington's chorea.

    OpenAIRE

    Bollen, E; Arts, R.J.; Roos, R A; van der Velde, E A; Buruma, O J

    1986-01-01

    Blink reflex, corneal reflex, jaw reflex, exteroceptive suppression in masseter muscles and brainstem auditory evoked potentials were measured in 20 patients with Huntington's chorea and 12 controls. A significantly increased latency of the second component of the homolateral and heterolateral blink reflex was found in the patient group as compared with the controls. The other investigations revealed no significant differences between patients and controls except for some facilitation of the ...

  11. Platelet monoamine uptake in relatives of patients with Huntington's chorea.

    OpenAIRE

    Ehsanullah, R S; Turner, P.

    1981-01-01

    Uptake of dopamine and 5-hydroxytryptamine (5-HT) by the platelets of 25 symptom-free relatives of patients with established Huntington's chorea (HC) was not significantly different from that of control subjects. Platelet uptake of 5-HT in 3 subjects with early signs of the disease showed increased Km and Vmax values. Increased platelet uptake of 5-HT in patients with established HC was confirmed in a further 3 patients. It seems that this phenomenon appears with the clinical evidence of the ...

  12. Morvan's fibrillary chorea. A case with possible manganese poisoning.

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    Haug, B A; Schoenle, P W; Karch, B J; Bardosi, A; Holzgraefe, M

    1989-01-01

    The clinical picture of Morvan's fibrillary chorea includes a. spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin (multiplets), b. autonomic dysregulation with profuse hyperhidrosis, and c. central nervous system involvement as shown by severe insomnia and hallucinosis. A case featuring all these symptoms is presented. Whereas known causative factors range from gold or mercury poisoning to autoimmune disorders, the presented case is the first one in which chronic manganese intoxication (occupational exposure) seems to be implicated. Manganese has been found to inhibit acetylcholine esterase, and, as a consequence, may produce peripheral and central cholinergic hyperactivity. PMID:2538282

  13. SPECT-examination with 99mTc-HMPAO in patients with Huntington's chorea

    International Nuclear Information System (INIS)

    Huntington's chorea is an autosomal dominant inherited disease with a chronic course and atrophy of the corpus striatum. PET examination shows reduced glucose metabolism in the caudate nucleus. We examined seven patients with Huntington's chorea by SPECT, using 99mTc-HMPAO. All patients had cortical defects of varying severity. In addition, five patients showed increased uptake in the region of the caudate nucleus. The specific tracer uptake due to the metabolic processes in the region of the caudate nucleus in Huntington's chorea is discussed. (orig.)

  14. Chorea due to basal ganglia involvement in a uremic diabetic patient

    Directory of Open Access Journals (Sweden)

    Faik Ilik

    2014-04-01

    Full Text Available Syndromes associated with acute bilateral lesions of the basal ganglia in diabetic uremic patients are uncommon. Uremic encephalopathy is typical of patients showing cortical involvement, with symptoms including confusion, seizures, tremors, or myoclonus. Whenever basal ganglia are anatomically involved, movement disorders arise, including chorea. In this article we present a case with basal ganglia involvement in a uremic diabetic patient causes chorea because of rare presentation. [Cukurova Med J 2014; 39(2.000: 353-356

  15. Lithium treatment of Huntington's chorea. A placebo-controlled clinical trial.

    Science.gov (United States)

    Vestergaard, P; Baastrup, P C; Petersson, H

    1977-09-01

    The therapeutic effect of lithium in Huntington's chorea was tested in six patients through a double-blind cross-over comparison of lithium and placebo, each administered for 6 weeks. Four of the patients received neuroleptic drugs at the same time. Lithium and placebo periods did not differ as regards motor skills, hyperkinesias, or total ward situation, all rated quantitatively with the use of scales. Lithium does not seem to be of therapeutic value in Huntington's chorea. PMID:143188

  16. Ethics of predictive testing for Huntington's chorea: the need for more information.

    OpenAIRE

    Craufurd, D I; Harris, R.

    1986-01-01

    The finding of a genetically linked polymorphic DNA marker has made possible a predictive test for Huntington's chorea. This DNA probe has so far been used only for research and has technical limitations, but some workers now wish to apply it to clinical predictions. Those identified by the probe as being probable carriers of the Huntington's chorea gene would be exposed to uncertain psychological risks and social pressures. Ethical guidelines should be established, but these require greater ...

  17. Recombinant DNA studies on stored necropsy brain samples from patients with Huntington's chorea.

    OpenAIRE

    Upadhyaya, M; G. P. Reynolds; P.S. Harper

    1985-01-01

    An analysis of deoxyribonucleic acid (DNA) in deep frozen brain samples taken from 100 patients with Huntington's chorea after death showed undegraded DNA in 44 cases. Of these, 16 were analysed with G8, a recombinant DNA probe, linked to the Huntington's chorea locus. In all cases unambiguous Southern blots were obtainable. No correlation between the yield of DNA and the principal storage factors was observed. The use of stored brain tissue obtained after death from patients with Huntington'...

  18. Positron emission tomography in cases of chorea with different underlying diseases.

    OpenAIRE

    Hosokawa, S.; Ichiya, Y; Kuwabara, Y; Ayabe, Z; Mitsuo, K; Goto, I; Kato, M.

    1987-01-01

    Local cerebral metabolic rate for glucose (LCMRglc) was measured with positron emission tomography using the 18F-fluorodeoxy-glucose method in five patients with chorea due to different underlying diseases. Hypometabolism was observed in the striatum bilaterally in patients with Huntington's disease, choreoacanthocytosis, sporadic progressive chorea and dementia, and pseudo-Huntington form of dentato-rubro-pallido-luysian atrophy (DRPLA). The patient with hemichorea showed hypometabolism in t...

  19. Anesthetic management of a patient with Huntington's chorea -A case report-

    OpenAIRE

    Kang, Jong-Man; Chung, Jun-Young; Han, Jin Hee; Kim, Yung-Suk; Lee, Bong Jae; Yi, Jae-Woo

    2013-01-01

    Huntington's chorea is a rare hereditary disorder of the nervous system. It is inherited as an autosomal dominant disorder and is characterized by progressive chorea, dementia and psychiatric disturbances. The best anesthetic technique is yet to be established for these patients with increased risk of aspiration due to involvement of pharyngeal muscles and an exaggerated response to sodium thiopental and succinylcholine. The primary goal in general anesthesia for these patients is to provide ...

  20. An International Survey-based Algorithm for the Pharmacologic Treatment of Chorea in Huntington’s Disease

    OpenAIRE

    Burgunder, Jean-Marc; Guttman, Mark; Perlman, Susan; Goodman, Nathan; van Kammen, Daniel P.; Goodman, LaVonne

    2011-01-01

    It is generally believed that treatments are available to manage chorea in Huntington’s disease (HD). However, lack of evidence prevents the establishment of treatment guidelines. The HD chorea research literature fails to address the indications for drug treatment, drug selection, drug dosing and side effect profiles, management of inadequate response to a single drug, and preferred drug when behavioral symptoms comorbid to chorea are present. Because there is lack of an evidence base to inf...

  1. Pharmacological treatment of chorea in Huntington’s disease–good clinical practice versus evidence-based guideline

    OpenAIRE

    Reilmann, Ralf

    2013-01-01

    Recently, the American Academy of Neurology published an evidence-based guideline for the pharmacological treatment of chorea in Huntington’s disease. Although the progress in medical care because of the implementation of criteria of evidence-based medicine is undisputed, the guideline classifies the level of evidence for drugs to reduce chorea based on anchors in the Unified Huntington’s Disease Rating Scale-Total Motor Score chorea sum score, which were chosen arbitrarily and do not reflect...

  2. Chorea, a little-known manifestation in systemic lupus erythematosus: short literature review and four case reports

    OpenAIRE

    Torreggiani, Sofia; Torcoletti, Marta; Cuoco, Federica; Di Landro, Giancarla; Petaccia, Antonella; Corona, Fabrizia

    2013-01-01

    Chorea is a movement disorder that may be found in children due to several causes. Here we focus especially on Systemic Lupus Erythematosus associated chorea. First we outline its epidemiology, hypothesized pathogenesis, clinical presentation and treatment, then we report four significant clinical cases, which represent well the extreme variability of set of symptoms that may accompany lupus chorea. Our experience, according to literature, suggests that choreic movements in a child should ale...

  3. Clinical, laboratory and electrophysiological features of Morvan's fibrillary chorea.

    Science.gov (United States)

    Lee, Will; Day, Timothy J; Williams, David R

    2013-09-01

    Morvan's Fibrillary Chorea (MFC) is a rare autoimmune disorder causally associated with auto-antibodies directed at the voltage-gated potassium channel (VGKC-Abs). It classically presents with sleep disturbances, neuromyotonia and dysautonomia. We aimed to systematically characterise the features of MFC by describing a patient and reviewing published literature. Case notes of 27 patients with MFC (one from our clinic and 26 from the literature) were reviewed and clinical data were extracted and analysed. We found that MFC mainly affects men (96%) and runs a subacute course over months. Neoplasia (56%), VGKC-Abs positivity (79%) and autoimmunity (41%) are frequent associations. Myokymia, insomnia and hyperhidrosis were almost universally described. Other autonomic features were present in 63% with the most common being cardiovascular and bowel disturbances. Clinical, radiological or electroencephalographical features of limbic encephalitis were present in 19% of patients. Outcome was fair with an overall recovery rate of 78%. All patients with malignancies underwent surgery. Immunotherapies including corticosteroids, intravenous immunoglobulins and plasma exchange were instituted in 22 patients and 19 (86%) responded. Of all symptomatic treatments tried, carbamazepine, phenytoin, sodium valproate, levetiracetam and niaprazine were found to be effective. The broad clinical spectrum of VGKC-Abs diseases can make early recognition of MFC difficult. Myokymia, insomnia and hyperhidrosis are invariably present. There may be abnormalities on cerebrospinal fluid testing and VGKC-Abs can occasionally be absent. Early initiation of immunotherapies and malignancy screening are important to prevent adverse outcomes in a condition that generally responds favourably to treatment.

  4. Sensitivity to ionising radiation of lymphocytes from Huntington's chorea patients compared to controls

    International Nuclear Information System (INIS)

    Blood samples were collected from 22 patients with Huntington's chorea and from 22 matched controls. Lymphocytes were separated from aliquots of each sample and cultures set up both from these and from further aliquots of whole blood. After 24 hours, half of each culture was subjected to X irradiation. Seventy-two hours later the percentages of live lymphocytes were estimated for each half of every culture and the viability ratio calculated for each sample. The lymphocytes derived from the patients with Huntington's chorea were found to be more susceptible to X irradiation than were the lymphocytes derived from controls. This was true both for whole blood and separated lymphocyte cultures. This susceptibility was found not to be the result of the main types of medication received by the patients. The small differences between viability ratios from patients and controls and the degree of overlap makes this test unsuitable for the prediction of asymptomatic carriers of the Huntington's chorea gene. (author)

  5. Lumbar Puncture Alleviates Chorea in a Patient with Huntington’s Disease and Normal Pressure Hydrocephalus

    Directory of Open Access Journals (Sweden)

    Peyman Shirani

    2009-01-01

    Full Text Available A 44-year-old African-American male was admitted to our hospital after a suicide attempt. He had depression, poor cognitive function, choreiform movements, difficulty pronouncing words, and difficulty walking. His symptoms had worsened markedly over several months. Chorea lead to genetic testing that confirmed a diagnosis of Huntington Disease (HD. A CT scan of the head showed wider ventricles than is typical of HD. The head CT and gait change suggested normal pressure hydrocephalus (NPH. Lumbar puncture (LP led to improved neuropsychologic test scores and walking thereby supporting the diagnosis of NPH. Surprisingly, the LP also led to an 80% improvement of chorea. There are two other reports of an association between HD and NPH. NPH should be considered in HD patients with atypical symptoms, such as the inability to walk or rapid progression, as its treatment may lead to improved cognition, gait, and chorea.

  6. Chorea in systemic lupus erythematosus: evidence for bilateral putaminal hypermetabolism on F-18 FDG PET

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Wook Jang; Chung, Son Mi; Koh, Su Jin; Lee, Chang Keun; Yoo, Bin; Moon, Hee Bom [College of Medicine, Ulsan Univ., Seoul (Korea, Republic of); Kim, Jae Seung; Im, Joo Hyuk [Asan Medical Center, Seoul (Korea, Republic of)

    2003-10-01

    We describe a 54-year-old woman with systemic lupus erythematosus (SLE) who suddenly presented with chorea and had positive antiphospholipid antibodies. F-18 FDG PET showed abnormally increased glucose metabolism in bilateral putamen and primary motor cotex. Tc-99m ECD SPECT also showed abnormally increased regional cerebral blood flow in bilateral putamen. She was treated with corticosteroid and aspirin after which the symptoms improved. Four months later, follow up F-18 FDG PET showed improvement with resolution of hypermetabolism in bilateral putamen. This case suggests that striatal hypermetabolism is associated with chorea in SLE.

  7. Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity

    NARCIS (Netherlands)

    Franceschi, L. de; Tomelleri, C.; Matte, A.; Brunati, A.M.; Bovee-Geurts, P.H.M.; Bertoldi, M.; Lasonder, E.; Tibaldi, E.; Danek, A.; Walker, R.H.; Jung, H.H.; Bader, B.; Siciliano, A.; Ferru, E.; Mohandas, N.; Bosman, G.J.C.G.M.

    2011-01-01

    Acanthocytic RBCs are a peculiar diagnostic feature of chorea-acanthocytosis (ChAc), a rare autosomal recessive neurodegenerative disorder. Although recent years have witnessed some progress in the molecular characterization of ChAc, the mechanism(s) responsible for generation of acanthocytes in ChA

  8. Patience is the key : Contraceptive induced chorea in a girl with Down Syndrome

    NARCIS (Netherlands)

    Eggink, Hendriekje; Kuiper, Anouk; Delnooz, Cathérine C S; Sival, Deborah A; de Koning, Tom J; Tijssen, Marina A J

    2016-01-01

    BACKGROUND: Isolated (sub)acute chorea in young patients is a relatively rare movement disorder with a broad differential diagnosis, including drug-induced, post-infectious, auto-immunological and vascular aetiologies. CASE PRESENTATION: We describe an adolescent girl with Down's syndrome presenting

  9. Clinical, laboratory, psychiatric and magnetic resonance findings in patients with Sydenham chorea

    Energy Technology Data Exchange (ETDEWEB)

    Faustino, Patricia C.; Terreri, Maria Teresa R.A.; Rocha, Antonio J. da; Zappitelli, Marcelo C.; Lederman, Henrique M.; Hilario, Maria Odete E. [Universidade Federal de Sao Paulo, Sao Paulo (Brazil)

    2003-07-01

    The objective of this study was to determine the clinical and laboratory characteristics, psychiatric manifestations and magnetic resonance imaging (MRI) findings in children and adolescents with Sydenham chorea (SyC). The imaging examination was repeated 1 year after the acute phase of SyC. There were 19 patients with a mean age of 11.7 years and a predominance of females (79%);68% had generalized chorea and 53% moderate chorea. SyC presented as an isolated manifestation in 74%. No association between SyC and obsessive-compulsive disorder was found. Mental health problems were present in 45% of the patients. MRI analysis revealed persistent alterations in the caudate nucleus in three patients (16%), who presented recurrent episodes of chorea during the study. In one patient, MRI revealed the presence of nodular heteropathy close to the caudate nucleus region. We conclude that attention problems can be associated with acute clinical features of SyC and persistent alterations in the basal nuclei, evidenced by MRI, can be found in some patients who tend to suffer prolonged attacks and a greater number of recurrences. (orig.)

  10. Late onset levodopa responsive Huntington's disease with minimal chorea masquerading as Parkinson plus syndrome

    OpenAIRE

    Reuter, I; Hu, M; T. Andrews; Brooks, D; Clough, C.; Chaudhuri, K

    2000-01-01

    Huntington's disease is characterised by hyperkinetic movements, mainly chorea, cognitive dysfunction, and psychiatric abnormalities. Non-dopa responsive parkinsonism occurs in the later stages of choreic disease or as the predominant feature of juvenile patients (Westphal variant). Late onset Huntington's disease presenting as levodopa responsive parkinsonism is rare. A series of four patients with late onset Huntington's disease presenting as levodopa responsive parkins...

  11. Dexmedetomidine with low-dose ketamine for cataract surgery under peribulbar block in a patient with Huntington's chorea

    OpenAIRE

    Naik, Shraddha; Shetti, Akshaya N.; Nadkarni, A. V.; Ahuja, Bhuvna

    2015-01-01

    Huntington's chorea (HC) is a rare hereditary disorder of the nervous system. It is inherited as an autosomal dominant disorder and is characterized by progressive chorea, dementia, and psychiatric disturbances. There are only a few case reports regarding the anesthetic management of a patient with HC and the best anesthetic technique is yet to be established for those patients which are at higher risk of perioperative complications. We report the anesthetic management of a 64-year-old patien...

  12. Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).

    OpenAIRE

    Quarrell, O W; Youngman, S; Sarfarazi, M; P.S. Harper

    1988-01-01

    A genetic linkage study between benign hereditary chorea and the locus D4S10 using the DNA probe G8 has shown two recombinations in five small families. There were negative lod scores at recombination fractions that show conclusive evidence of linkage in 16 larger British Huntington's disease families. We suggest that although benign hereditary chorea and Huntington's disease may have some clinical similarities they are probably at two different loci.

  13. Lumbar Puncture Alleviates Chorea in a Patient with Huntington’s Disease and Normal Pressure Hydrocephalus

    OpenAIRE

    Peyman Shirani; Salamone, Alicia R.; Elham Lahijani; York, Michele K.; Schulz, Paul E.

    2009-01-01

    A 44-year-old African-American male was admitted to our hospital after a suicide attempt. He had depression, poor cognitive function, choreiform movements, difficulty pronouncing words, and difficulty walking. His symptoms had worsened markedly over several months. Chorea lead to genetic testing that confirmed a diagnosis of Huntington Disease (HD). A CT scan of the head showed wider ventricles than is typical of HD. The head CT and gait change suggested normal pressure hydrocephalus (NPH). L...

  14. Latrepirdine, a potential novel treatment for Alzheimer’s disease and Huntington’s chorea

    OpenAIRE

    Sabbagh, Marwan N.; Shill, Holly A.

    2010-01-01

    Latrepirdine (Dimebon) is a novel compound currently under development by Medivation Inc and Pfizer Inc for the treatment of Alzheimer’s disease and Huntington’s chorea. Originally developed and marketed as an antihistamine in Russia, it has potential for the treatment of neurodegenerative diseases. Early research suggested that the mechanism of action is centered on AChE inhibition and NMDA antagonism. Newer research casts some doubt regarding these early findings and other mechanisms of act...

  15. Sensitivity to ionising radiation of lymphocytes from Huntington's chorea patients compared to controls.

    OpenAIRE

    McGovern, D.; Webb, T.

    1982-01-01

    Blood samples were collected from 22 patients with Huntington's chorea and from 22 matched controls. Lymphocytes were separated from aliquots of each sample and cultures set up both from these and from further aliquots of whole blood. After 24 hours, half of each culture was subjected to X irradiation. Seventy-two hours later the percentages of live lymphocytes were estimated for each half of every culture and the viability ratio calculated for each sample. The lymphocytes derived from the pa...

  16. Acute Chorea Characterized by Bilateral Basal Ganglia Lesions in a Patient with Diabetic Nephropathy

    OpenAIRE

    İbrahim DOĞAN; Serdar KAHVECİOĞLU; Kurtoğlu, Ünal; YILDIZ, DEMET; Abdulmecit YILDIZ

    2015-01-01

    The syndrome of acute bilateral basal ganglia lesions associated with uremia presents with parkinsonism, altered mental status, and chorea in association with specific imaging findings in the basal ganglia. It is an uncommon syndrome seen generally in patients with diabetes mellitus and renal failure. We report a male patient with diabetes mellitus who received hemodialysis treatment 3 days a week for 5 years and suffered from choreic movements developed suddenly and associated with bilateral...

  17. Tetrabenazine: the first approved drug for the treatment of chorea in US patients with Huntington disease

    Directory of Open Access Journals (Sweden)

    Samuel Frank

    2010-09-01

    Full Text Available Samuel FrankBoston University School of Medicine, Boston, Massachusetts, USAAbstract: Huntington disease (HD is a dominantly inherited progressive neurological disease characterized by chorea, an involuntary brief movement that tends to flow between body regions. HD is typically diagnosed based on clinical findings in the setting of a family history and may be confirmed with genetic testing. Predictive testing is available to those at risk, but only experienced clinicians should perform the counseling and testing. Multiple areas of the brain degenerate mainly involving the neurotransmitters dopamine, glutamate, and γ-aminobutyric acid. Although pharmacotherapies theoretically target these neurotransmitters, few well-conducted trials for symptomatic or neuroprotective interventions yielded positive results. Tetrabenazine (TBZ is a dopamine-depleting agent that may be one of the more effective agents for reducing chorea, although it has a risk of potentially serious adverse effects. Some newer antipsychotic agents, such as olanzapine and aripiprazole, may have adequate efficacy with a more favorable adverse-effect profile than older antipsychotic agents for treating chorea and psychosis. This review will address the epidemiology and diagnosis of HD as background for understanding potential pharmacological treatment options. Because TBZ is the only US Food and Drug Administration-approved medication in the United States for HD, the focus of this review will be on its pharmacology, efficacy, safety, and practical uses. There are no current treatments to change the course of HD, but education and symptomatic therapies can be effective tools for clinicians to use with patients and families affected by HD.Keywords: dopamine-depleting agent, neuroleptics, tetrabenazine

  18. Clinical analysis of non-ketotic hyperglycemic chorea (NKHC: A report of 11 cases

    Directory of Open Access Journals (Sweden)

    Mei-ying ZHAO

    2014-10-01

    Full Text Available Objective To investigate the clinical features, imaging characteristics, treatment and prognosis of non-ketotic hyperglycemic chorea (NKHC. Methods The clinical data of 11 NKHC patients, who were admitted to Zhengzhou Central Hospital affiliated to Zhengzhou University from Jun. 2004 to Dec. 2012, were retrospectively analyzed, including age, sex, initial blood glucose and glycosylated hemoglobin (HbA1c, clinical symptoms and imaging characteristics, treatment and prognosis. Results The mean age of the 11 patients was 71±7.6 years old, the sex ratio (male/female was 1:4.5. The initial blood glucose was 18.86±2.40mmol/L, and HbA1c was (10.4±2.4%. The symptoms of chorea involving unilateral limb in 10 of the 11 patients, and both limbs in one. Abnormal neuroimaging findings (CT or MRI were detected in 10 of the 11 patients, while no abnormal findings were noted in the remaining one. CT revealed high density image at the basal ganglia contralateral to the affected side in 7 patients, and the increased signal intensity was detected by T1-weighted brain MRI in 10 patients. Seven patients only received insulin treatment in hospital, and the 4 others were treated with haloperidol or diazepam in addition to insulin therapy. For most patients the symptoms of chorea disappeared in five to ten days. Conclusion NKHC usually presents as a unique syndrome that shows involuntary limb movement disorders involving mostly right upper extremity. The brain MRI showing higher signal lesions in T1WI at the basal ganglia is common, and they are reversible changes. NKHC mostly affects elderly women and are caused by poorly controlled blood sugar. Timely insulin therapy is vital for treatment of NKHC. DOI: 10.11855/j.issn.0577-7402.2014.08.08

  19. Positron emission tomography in Huntington's chorea using C15O2, 15O2 and 18 FDG

    International Nuclear Information System (INIS)

    Positron emission tomography (PET) using C15 O2, 15O2 and 18FDG was performed in a father and his son with Huntington's chorea. It was suggested that striatal atrophy occurred before the extensive atrophy of the cerebral cortex and that the progression of atrophy of the right and left cerebral hemispheric cortexes was not uniform. (Namekawa, K.)

  20. The presentation and evaluation of a case of systemic Lupus erythematosus and anthiphospholipid antibody syndrome with primary clinical manifestation of chorea

    Directory of Open Access Journals (Sweden)

    Asgary S

    1998-06-01

    Full Text Available Manifestation of chorea in patients with systemic lupus erythematosus (SLE and antiphospholipid antibody syndrome (APA synd. is not common. Moreover, primary presentation of the disease with chorea is rare and only few such cases are reported in literature in recent years. We report here the case of a 28 year old woman who was first seen at the age of 10 with clinical manifestations of chorea. Later she developed deep vein thrombosis, thrombocytpenia, stroke, cardiac valve involvement and recurrent abortions. Laboratory investigations confirmed the diagnosis of SLE and the presence of antiphospholipid antibodies. We present this patient as a case of SLE and antiphospholipid antibody syndrome with chorea being her primary clinical presentation

  1. Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis.

    Directory of Open Access Journals (Sweden)

    Marie Miquel

    Full Text Available BACKGROUND: Chorea-acanthocytosis (ChAc is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS of the ventro-postero-lateral internal globus pallidus (GPi may benefit these patients. To explore this issue, the present multicentre (n=12 retrospective study collected the short and long term outcome of 15 patients who underwent DBS. METHODS: Data were collected in a standardized way 2-6 months preoperatively, 1-5 months (early and 6 months or more (late after surgery at the last follow-up visit (mean follow-up: 29.5 months. RESULTS: Motor severity, assessed by the Unified Huntington's Disease Rating Scale-Motor Score, UHDRS-MS, was significantly reduced at both early and late post-surgery time points (mean improvement 54.3% and 44.1%, respectively. Functional capacity (UHDRS-Functional Capacity Score was also significantly improved at both post-surgery time points (mean 75.5% and 73.3%, respectively, whereas incapacity (UHDRS-Independence Score improvement reached significance at early post-surgery only (mean 37.3%. Long term significant improvement of motor symptom severity (≥ 20 % from baseline was observed in 61.5 % of the patients. Chorea and dystonia improved, whereas effects on dysarthria and swallowing were variable. Parkinsonism did not improve. Linear regression analysis showed that preoperative motor severity predicted motor improvement at both post-surgery time points. The most serious adverse event was device infection and cerebral abscess, and one patient died suddenly of unclear cause, 4 years after surgery. CONCLUSION: This study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc.

  2. Sydenham Chorea and PANDAS in South Africa: Review of Evidence and Recommendations for Management in Resource-Poor Countries.

    Science.gov (United States)

    Walker, Kathleen G; de Vries, Petrus J; Stein, Dan J; Wilmshurst, Jo M

    2015-06-01

    In South Africa, and worldwide, rheumatic fever represents a public health problem. Improved diagnosis and management of Sydenham chorea, a major manifestation of acute rheumatic fever is key to prevention of rheumatic heart disease. This article reviews Sydenham chorea from its original description to current opinions. Recommendations are founded on expert opinion as class 1 data is lacking. This South African perspective is relevant to resource-poor settings globally insofar as it provides diagnosis and management recommendations for primary- and secondary-level healthcare professionals who care for patients in such environments. Four basic tenets of care are recommended, namely, elimination of the streptococcal infection, symptomatic treatment, immunological treatment, and nonpharmacologic interventions. A user-friendly outcome measurement tool, viable for use in low-resource settings is presented. Introduction of this tool may lead to increased awareness of the neuropsychiatric manifestations of poststreptococcal movement disorders in Africa, where reports are limited. PMID:25227516

  3. Hemichorea Hemiballism Syndrome: The First Presentation of Type 2 Diabetes Mellitus as a Rare Cause of Chorea

    Directory of Open Access Journals (Sweden)

    P. Mittal

    2011-06-01

    Full Text Available Hemichorea-hemiballism (HCHB syndrome, which is most commonly related to non-ketotic"nhyperglycemia, is a rare type of chorea. Here, we present an unusual case of HCHB syndrome who"nwas not a known case of diabetes. This case highlights the importance of recognising underlying"nnon-ketotic hyperglycemia, as control of hyperglycemia is helpful in the quick relief of symptoms.

  4. Dopaminergic innervation of the human subventricular zone: a comparison between Huntington’s chorea and Parkinson’s disease

    OpenAIRE

    Parent, Martin; Bédard, C; Pourcher, E

    2013-01-01

    The subventricular zone retains its neurogenic capacity throughout life and, as such, is often considered a potential source for endogenous repair in neurodegenerative disorders. Because dopamine is believed to stimulate adult neurogenesis, we looked for possible variations in the dopaminergic innervation of the subventricular zone between cases of Huntington’s chorea and Parkinson’s diseases. Antibodies against tyrosine hydroxylase (TH) and proliferating cell nuclear antigen (PCNA) were used...

  5. Auditory P300 Event-Related Potentials in Children with Sydenham?s Chorea

    Directory of Open Access Journals (Sweden)

    Hasan Hüseyin Ozdemir

    2014-08-01

    Full Text Available P300 event-related potentials (ERPs, objective measures related to cognitive processing, have not been studied in Sydenham’s chorea (SC patients. Purpose: To assess cognitive impairment with P300 ERPs. Method: Seventeen patients with SC and 20 unaffected healthy children were included. Stanford–Binet test was used for psychometric assessment, and odd-ball paradigm was used for auditory ERPs. Results: There was no significant difference in P300 latencies between the SC-pretreatment group, SC-posttreatment group and control group (p>0.05. Mean interpeak latencies in SC-pretreatment group and SC-posttreatment group showed significant prolongation compared with the control group (p<0.05. Mean interpeak latencies in SC-posttreatment group were significantly decreased compared with SC-pretreatment group (p<0.05. Compared to controls, patients did not show significant difference in Stanford-Binet intelligence examination. Conclusion: This report suggests that interpeak latencies and amplitudes of P300 ERPs could be useful for detecting and monitoring cognitive impairment in SC patients.

  6. Neurotensin receptor binding levels in basal ganglia are not altered in Huntington's chorea or schizophrenia

    International Nuclear Information System (INIS)

    Autoradiographic techniques were used to examine the distribution and levels of neurotensin receptor binding sites in the basal ganglia and related regions of the human brain. Monoiodo (125I-Tyr3)neurotensin was used as a ligand. High amounts of neurotensin receptor binding sites were found in the substantia nigra pars compacta. Lower but significant quantities of neurotensin receptor binding sites characterized the caudate, putamen, and nucleus accumbens, while very low quantities were seen in both medial and lateral segments of the globus pallidus. In Huntington's chorea, the levels of neurotensin receptor binding sites were found to be comparable to those of control cases. Only slight but not statistically significant decreases in amounts of receptor binding sites were detected in the dorsal part of the head and in the body of caudate nucleus. No alterations in the levels of neurotensin receptor binding sites were observed in the substantia nigra pars compacta and reticulata. These results suggest that a large proportion of neurotensin receptor binding sites in the basal ganglia are located on intrinsic neurons and on extrinsic afferent fibers that do not degenerate in Huntington's disease

  7. Acute Chorea Characterized by Bilateral Basal Ganglia Lesions in a Patient with Diabetic Nephropathy

    Directory of Open Access Journals (Sweden)

    İbrahim DOĞAN

    2015-09-01

    Full Text Available The syndrome of acute bilateral basal ganglia lesions associated with uremia presents with parkinsonism, altered mental status, and chorea in association with specific imaging findings in the basal ganglia. It is an uncommon syndrome seen generally in patients with diabetes mellitus and renal failure. We report a male patient with diabetes mellitus who received hemodialysis treatment 3 days a week for 5 years and suffered from choreic movements developed suddenly and associated with bilateral basal ganglia lesions. In the brain magnetic resonance (MR imaging, isointense was detected in sequence T1 in the bilateral basal ganglions and hyperintense lesion was determined in T2 and FLAIR sequences. The patient was administered daily hemodialysis and neuroleptic treatment. After intensified hemodialysis, his symptoms and follow-up brain MR imaging showed marked improvement. The underlying mechanism of such lesions may be associated with metabolic, as well as vascular factors. Acute choreic movements may be seen in patients with diabetic nephropathy and intensification of hemodialysis treatment along with blood glucose regulation may provide improvement in this syndrome.

  8. Tetrabenazine as anti-chorea therapy in Huntington Disease: an open-label continuation study. Huntington Study Group/TETRA-HD Investigators

    Directory of Open Access Journals (Sweden)

    Frank Samuel

    2009-12-01

    Full Text Available Abstract Background Tetrabenazine (TBZ selectively depletes central monoamines by reversibly binding to the type-2 vesicular monoamine transporter. A previous double blind study in Huntington disease (HD demonstrated that TBZ effectively suppressed chorea, with a favorable short-term safety profile (Neurology 2006;66:366-372. The objective of this study was to assess the long-term safety and effectiveness of TBZ for chorea in HD. Methods Subjects who completed the 13-week, double blind protocol were invited to participate in this open label extension study for up to 80 weeks. Subjects were titrated to the best individual dose or a maximum of 200 mg/day. Chorea was assessed using the Total Maximal Chorea (TMC score from the Unified Huntington Disease Rating Scale. Results Of the 75 participants, 45 subjects completed 80 weeks. Three participants terminated due to adverse events (AEs including depression, delusions with associated previous suicidal behavior, and vocal tics. One subject died due to breast cancer. The other 26 subjects chose not to continue on with each ensuing extension for various reasons. When mild and unrelated AEs were excluded, the most commonly reported AEs (number of subjects were sedation/somnolence (18, depressed mood (17, anxiety (13, insomnia (10, and akathisia (9. Parkinsonism and dysphagia scores were significantly increased at week 80 compared to baseline. At week 80, chorea had significantly improved from baseline with a mean reduction in the TMC score of 4.6 (SD 5.5 units. The mean dosage at week 80 was 63.4 mg (range 12.5-175 mg. Conclusions TBZ effectively suppresses HD-related chorea for up to 80 weeks. Patients treated chronically with TBZ should be monitored for parkinsonism, dysphagia and other side effects including sleep disturbance, depression, anxiety, and akathisia. Trial Registration Clinicaltrials.gov registration number (initial study: NCT00219804

  9. In vivo proton MR spectroscopy of chorea-ballismus in diabetes mellitus

    Energy Technology Data Exchange (ETDEWEB)

    Lai, P.H.; Pan, H.B.; Yang, C.F.; Wu, M.T.; Chen, C.; Liang, H.L.; Chen, W.L. [Dept. of Radiology, Veterans General Hospital-Kaohsiung, National Yang-Ming College, Kaohsiung (Taiwan); Chen, P.C. [Dept. of Biomedical Engineering, I-Shou University, Kaohsiung (Taiwan); Chang, M.H.; Li, J.Y. [Dept. of Neurology, Veterans General Hospital-Kaohsiung, National Yang-Ming College, Kaohsiung (Taiwan)

    2001-07-01

    The most common cause of chorea-ballismus (CB) is a vascular lesion; it is also associated with nonketotic hyperglycaemia in diabetes mellitus (DM) and may be the first manifestation of this disorder. We describe the CT, MRI and proton MR spectroscopy ({sup 1}H-MRS) of CB in eight patients. Six had hemichorea-hemiballismus (HC-HB) and two bilateral CB. Single-voxel (SV) {sup 1}H-MRS was performed using point-resolved spectroscopy (PRESS). Voxels were positioned in the basal ganglia of the patients and control subjects. PRESS was also used to obtain spectroscopic imaging ({sup 1}H-MRSI) of the slice of interest in two patients. CT showed a slightly dense striatum in all the patients with CB, and T1-weighted images revealed high signal. The CB correlated well with the neuroimaging findings. SV {sup 1}H-MRS showed the mean ({+-} SD) N-acetylaspartate (NAA)/ creatine (Cr) ratio to be 1.45 {+-} 0.19 in HC-HB and 1.82 {+-} 0.06 on the opposite normal side (P = 0.01). The choline (Cho)/Cr ratio was 1.3 {+-} 0.12 in HC-HB and 1.11 {+-} 0.13 on the opposite normal side (P = 0.005). A lactate peak was seen in seven patients. The NAA/Cr ratio was 1.44 {+-} 0.15 in bilateral CB and 1.74 {+-} 0.16 in the controls (P = 0.017); the Cho/Cr ratios were 1.36 {+-} 0.1 and 1.19 {+-} 0.07 (P = 0.015). The low NAA/Cr suggests neuronal loss or damage and the high Cho/Cr probably indicates gliosis. The presence of lactate may suggest mild ischaemia due to acute vascular events during hyperglycaemia and underlying chronic focal cerebrovascular diseases in DM. (orig.)

  10. In vivo proton MR spectroscopy of chorea-ballismus in diabetes mellitus

    International Nuclear Information System (INIS)

    The most common cause of chorea-ballismus (CB) is a vascular lesion; it is also associated with nonketotic hyperglycaemia in diabetes mellitus (DM) and may be the first manifestation of this disorder. We describe the CT, MRI and proton MR spectroscopy (1H-MRS) of CB in eight patients. Six had hemichorea-hemiballismus (HC-HB) and two bilateral CB. Single-voxel (SV) 1H-MRS was performed using point-resolved spectroscopy (PRESS). Voxels were positioned in the basal ganglia of the patients and control subjects. PRESS was also used to obtain spectroscopic imaging (1H-MRSI) of the slice of interest in two patients. CT showed a slightly dense striatum in all the patients with CB, and T1-weighted images revealed high signal. The CB correlated well with the neuroimaging findings. SV 1H-MRS showed the mean (± SD) N-acetylaspartate (NAA)/ creatine (Cr) ratio to be 1.45 ± 0.19 in HC-HB and 1.82 ± 0.06 on the opposite normal side (P = 0.01). The choline (Cho)/Cr ratio was 1.3 ± 0.12 in HC-HB and 1.11 ± 0.13 on the opposite normal side (P = 0.005). A lactate peak was seen in seven patients. The NAA/Cr ratio was 1.44 ± 0.15 in bilateral CB and 1.74 ± 0.16 in the controls (P = 0.017); the Cho/Cr ratios were 1.36 ± 0.1 and 1.19 ± 0.07 (P = 0.015). The low NAA/Cr suggests neuronal loss or damage and the high Cho/Cr probably indicates gliosis. The presence of lactate may suggest mild ischaemia due to acute vascular events during hyperglycaemia and underlying chronic focal cerebrovascular diseases in DM. (orig.)

  11. Chorea: clinical correlates of 119 cases Coréia: análise clínica de 119 casos

    Directory of Open Access Journals (Sweden)

    Maria Fernanda Mendes

    1996-09-01

    Full Text Available Chorea is a clinical syndrome characterized by abnormal involuntary arrhythmic movements, randomly distributed in time, affecting mainly the distal parts of the limbs. There are many diseases associated with chorea but the distribution of the etiologies vary too much in different parts of the world. We intended to study the etiologies of chorea in a Movement Disorders Unit of a university hospital-based outpatient clinic in Brazil. We studied the records of 119 patients with chorea based in the diagnostic criteria of the World Federation of Neurology. Sydenham's chorea (SC was the most frequent cause of chorea (51.3% of our sample. Other common causes were Huntington's chorea (18.5% and chorea post-stroke (9.2%. SC is not commonly seen in developed countries nowadays but is not rare in Brazil. SC patients generally have the clinical manifestation of it in the first 20 years of age and girls are more affected than boys and this feature was observed in our sample. Based on our own experience and in the review of the literature we propose an etiological classification of chorea.Coréia é uma síndrome caracterizada por movimentos involuntários arrítmicos, rápidos, abruptos, não repetitivos no tempo e com distribuição variável, preferentemente distal. O número de entidades clínicas reconhecidamente associadas a movimentos coréicos tem se tornado cada vez maior com o passar do tempo. Propusemo-nos estudar a frequência e algumas características epidemiológicas das coréias atendidas em um ambulatório especializado em distúrbios do movimento. Foram estudados os prontuários de 119 pacientes com o diagnóstico sindrômico de coréia. O predomínio absoluto foi de coréia de Sydenham (CS com 51,3% do total da amostra. Outras causas frequentes foram doença de Huntington (DH presente em 18,5% e a coréia secundária a doença cerebrovascular em 9,2% dos pacientes. O sexo feminino predominou em todas as faixas etárias, mas principalmente

  12. Safety and Efficacy of Tetrabenazine and Use of Concomitant Medications During Long-Term, Open-Label Treatment of Chorea Associated with Huntington’s and Other Diseases

    OpenAIRE

    Shen, Vivienne; Clarence-Smith, Kathleen; Hunter, Christine; Jankovic, Joseph

    2013-01-01

    Background Although tetrabenazine, a drug that depletes presynaptic dopamine by inhibiting vesicular monoamine transporter 2 (VMAT2), was approved by the U.S. Food and Drug Administration in 2008 for the treatment of chorea associated with Huntington’s disease (HD), there is a paucity of data on its long-term efficacy and safety. Methods Approximately 2,000 patients with a variety of hyperkinetic movement disorders had been treated with open-label tetrabenazine at the Movement Disorders Clini...

  13. Chorea as a clinical feature of the basophilic inclusion body disease subtype of fused-in-sarcoma-associated frontotemporal lobar degeneration.

    Science.gov (United States)

    Kawakami, Ito; Kobayashi, Zen; Arai, Tetsuaki; Yokota, Osamu; Nonaka, Takashi; Aoki, Naoya; Niizato, Kazuhiro; Oshima, Kenichi; Higashi, Shinji; Katsuse, Omi; Hosokawa, Masato; Hasegawa, Masato; Akiyama, Haruhiko

    2016-04-04

    Choreoathetoid involuntary movements are rarely reported in patients with frontotemporal lobar degeneration (FTLD), suggesting their exclusion as a supportive feature in clinical diagnostic criteria for FTLD. Here, we identified three cases of the behavioral variant of frontotemporal dementia (bvFTD) that display chorea with fused in sarcoma (FUS)-positive inclusions (FTLD-FUS) and the basophilic inclusion body disease (BIBD) subtype. We determined the behavioral and cognitive features in this group that were distinct from other FTLD-FUS cases. We also reviewed the clinical records of 72 FTLD cases, and clarified additional clinical features that are predictive of the BIBD pathology. Symptom onset in the three patients with chorea was at 44.0 years of age (±12.0 years), and occurred in the absence of a family history of dementia. The cases were consistent with a clinical form of FTD known as bvFTD, as well as reduced neurological muscle tone in addition to chorea. The three patients showed no or mild parkinsonism, which by contrast, increased substantially in the other FTLD cases until a later stage of disease. The three patients exhibited severe caudate atrophy, which has previously been reported as a histological feature distinguishing FTLD-FUS from FTLD-tau or FTLD-TAR DNA-binding protein 43. Thus, our findings suggest that the clinical feature of choreoathetosis in bvFTD might be associated with FTLD-FUS, and in particular, with the BIBD subtype.

  14. Huntington舞蹈病一家系临床遗传学分析%Clinical-Genetic Analysis of the Huntington Chorea

    Institute of Scientific and Technical Information of China (English)

    罗纯

    2012-01-01

    目的 通过分析Huntington舞蹈病一家系临床资料并对症前高风险成员进行再发风险预测,为该病的基因诊断和遗传咨询提供科学依据.方法 全面的家系调查、深入的系谱分析和主动的遗传优生咨询.结果 以先证者为线索深入调查此家系4代39人,家系中有Htington舞蹈病患者7例,3男4女;高风险者7名,需进一步进行基因诊断.结论 此病为常染色体显性遗传病;体现了延迟显性、遗传印记和遗传早现等遗传学特征;对家系高风险者进行婚育指导和症前、孕前、产前诊断对避免患儿的出生具有重要意义.%OBJECTIVE To analyze the clinical data of a Huntington Chorea family and predicting the recurrence risk before symptomatic recurrence for high-risk members, provide scientific basis for genetic disease diagnosis and counseling. METHODS Comprehensive family survey, in-depth genetic pedigree analysis and proactive eugenic counseling were conducted. RESULTS We took the proband as a clue to look into the four generations of a family with 39 people, 7 of them (3 males and 4 females) had Huntington Chorea, another 7 had high risk who were subjects to further genetic diagnosis. CONCLUSION The Huntington Chorea is autosomal dominant inheritance. It features delayed dominance, genetic imprinting, genetic anticipation and other genetic characteristics. For families at high risk, it is critical to provide guidance on marriage and child rearing, pre-pregnancy and prenatal diagnosis in order to avoid the birth of children with the disease.

  15. Cerebral neurotransmission in huntington's disease and wilson's disease; Zerebrale Neurotransmission bei Chorea Huntington und Morbus Wilson

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    Barthel, H.; Sabri, O. [Klinik und Poliklinik fuer Nuklearmedizin, Univ. Leipzig (Germany)

    2002-09-01

    Huntington's disease and Wilson's disease are hereditary disorders with different neuropsychiatric symptoms. In both cases, these symptoms are mainly attributed to functional alterations of neurons, which are located in the basal ganglia. According deficits have been found by investigating the dopaminergic neurotransmission with different PET and SPECT tracers. For both diseases, these deficits revealed to concordantly involve the pre- and postsynaptic compartment. Apart from the dopaminergic system, more recent studies showed alterations of other neurotransmitter systems, like the serotonergic, GABA-ergic and opioide system. Except for scientific studies, nuclear medicine imaging is not regularly required for primary diagnosis of both disorders. In the case of Huntington's disease, however, imaging can be helpful for differential diagnosis to other diseases with similar initial symptoms and to determine the organic manifestation of the gene defect. In addition, neurotransmitter imaging with radiortracers could gain more relevance in the future in supporting decisions on specific treatments or for therapy monitoring in both diseases. (orig.) [German] Bei der Chorea Huntington und dem Morbus Wilson handelt es sich um erbliche Erkrankungen mit unterschiedlicher neuropsychiatrischer Symptomatik, welche im Wesentlichen auf Funktionsstoerungen von im Basalganglienbereich lokalisierten Neuronen zurueckgefuehrt werden. Untersuchungen der dopaminergen Neurotransmission mit verschiedenen PET- und SPECT-Radiopharmaka ergaben dementsprechende Defizite, welche fuer beide Erkrankungen konkordant das prae- und postsynaptische Kompartment betrafen. Juengere Studien deuten darueber hinaus auf Stoerungen anderer Neurotransmitter-Systeme, wie z.B. des serotonergen, GABAergen und Opioid-Systems, hin. Ausserhalb von wissenschaftlichen Fragestellungen ist die nuklearmedizinische Bildgebung bei beiden Erkrankungen in der Primaerdiagnostik eher selten erforderlich. Im

  16. Valor de alguns exames complementares na Coréia de Sydenha The value of some laboratorial data in Sydenham's chorea

    Directory of Open Access Journals (Sweden)

    Aron J. Diament

    1972-09-01

    Full Text Available Sixty eight cases of Sydenham's chorea (SC were studied with the purpose of characterizing biologically the choreic individual by means of some laboratorial data. Based on antecedents, on the presence of recent infectious disease, on clinical examination, on electrocardiographs and x-rays of the heart, and according to a modified Jones criteria the patients were initially divided in three groups: aGroup 1 — 30 patients (case 1 to 30 which presented SC associated with active rheumatic fever (RF; b Group 2 — 20 patients (cases 31 to 50 which presented SC associated with a previou or present infectious state without active RF; c Group 3 — 18 patients (cases 51 to 68 which presented "pure" SC, not having anything in their antecedents, or in present history, nor in their physical examinations that could justify calling them "rheumatic" or "infectious". However the analysis of the clinical data, by means of the homogenization tests (qui square or the exact Fisher test and Goodman's contrast test showed the artificiality of this grouping, which could not be longer sustained. From the 68 cases studied the average age group was 9.9 years, with the maximum age being 17 years, and the minimum age being 4.5 years. 47 of the cases were females as compared to 21 males (2.2 to 1; 60 patients were white, 7 dark-skinned and one negro. The average evolution time of the choreic syndrome, at the time of the first consultation, was 6 months and 7 days, with a minimum of 13 days and a maximum of 60 months. The incidence of the outbreak as far as the season of the year is concerned, was as follows: 31 cases between autumn and winter; 14 cases in spring and 22 in summer. The following laboratory examinations have been made: a"classical acute phase serum reagents" (APSR: sedimentation rate, differential blood count, Weltmann reaction, mucoproteins, C reactive protein, antistreptolysin-O titter, electrophoresis of serum proteins; b copper and ceruloplasmin

  17. Acoustic analysis of prosody in Sydenham's chorea Análise acústica da prosódia em coréia de Sydenham

    Directory of Open Access Journals (Sweden)

    Patrícia M Oliveira

    2010-10-01

    Full Text Available There are few studies of language and speech in patients with Sydenham's chorea (SC. We have done an acoustic analysis of fundamental frequency (F0, duration and intensity of declarative and interrogative sentences made by 20 SC patients, 20 patients with rheumatic fever (RF without chorea, and compared them with 20 healthy age-matched controls (CO. Each group included 12 females. We found that there is no difference between the RF and CO groups in all studied parameters. Patients with SC, however, presented with a speech characterized by decreased F0 range (difference between minimum and maximum F0, shorter duration of sentences, and higher intensity of the first syllable of sentences. The findings were not influenced by the nature of the sentences (i.e. , declarative or interrogative, but for all variables they were significantly more severe in males than females. In conclusion, we have demonstrated that patients with acute SC have an impairment of modulation of F0 and longer duration of emission of sentences, resulting in a monotone and slow speech. This pattern is similar to what has been described in other basal ganglia illnesses, such as Parkinson's disease, Huntington's disease and Wilson's disease.Há poucos estudos sobre linguagem e fala em pacientes com coréia de Sydenham (CS. Fizemos uma análise acústica da freqüência fundamental (F0, duração e intensidade de sentenças declarativas e interrogativas feitas por 20 pacientes com CS, 20 pacientes com febre reumática (FR sem coréia, comparando-os com 20 controles saudáveis e pareados por idade (CO. Cada grupo incluiu 12 mulheres. Foi encontrado que não há diferença entre os grupos FR e CO quanto a todos parâmetros estudados. Pacientes com CS, contudo, apresentaram-se com fala caracterizada pela redução da variação de F0 (diferença entre F0 mínima e máxima, duração mais curta das sentenças e maior intensidade da primeira sílaba das sentenças. Os achados não foram

  18. Clinical and MRI Manifestations of Chorea with Non-kenotic Hyperglycemia%非酮症性高血糖合并舞蹈症的临床及MRI表现

    Institute of Scientific and Technical Information of China (English)

    董晓宇; 佡剑非

    2015-01-01

    【目的】探讨非酮症高血糖合并舞蹈症的临床特点、M RI表现、治疗、预后及可能的发病机制。【方法】回顾性分析本院神经内科收治的1例及2003年10月至2013年12月43例通过检索中国期刊全文数据库、中国科技期刊万方数据库文献报道的非酮症性高血糖合并偏侧舞蹈症患者的临床资料。【结果】本研究共纳入44例病例,舞蹈症发病时的平均血糖水平为22.01 mmol/L ,34例患者为偏侧舞蹈症,10例患者双侧舞蹈症(头磁共振显示双侧基底节病变)。M RI显示全部患者壳核均受累,其中单纯壳核病变17例,伴有基底节其他部位病变27例,其中尾状核受累22例,苍白球受累5例,M RI表现为T1加权高信号。经过降低血糖并联合应用镇静剂等治疗,34例患者恢复正常,8例临床症状好转,2例患者药物治疗无效。【结论】非酮症高血糖合并舞蹈症是一种多发于老年人的良性疾病,女性患者更容易发病,头颅M RI的 T1加权高信号病变具有可逆性,并与临床舞蹈症缓解相关。%[Objective] To explore clinical features and magnetic resonance image(MRI) manifestations of Chorea with non‐kenotic hyperglycemia .[Methods]Clinical data of one inpatient in our hospital and 43 cases of hemichorea with non‐kenotic hyperglycemia reported in the literatures were analyzed retrospectively .[Re‐sults] This study included 44 cases .The mean blood glucose level at onset of Chorea was 22 .01mmol/L .A‐mong all patients ,34 patients were hemichorea and 10 patients were bilateral Chorea(head MRI showed bilat‐eral basal ganglia lesions) .All putamen of patients were involved in MRI .There were 17 cases of simple puta‐men lesions and 27 cases combined with other parts of basal ganglia lesions including caudate nucleus involved in 22 cases and globus pallidus involved in 5 cases .Lesions were high signal intensity on T1‐weighted brain MRI

  19. Neuronal antibody biomarkers for Sydenham's chorea identify a new group of children with chronic recurrent episodic acute exacerbations of tic and obsessive compulsive symptoms following a streptococcal infection.

    Directory of Open Access Journals (Sweden)

    Harvey S Singer

    Full Text Available Several autoantibodies (anti-dopamine 1 (D1R and 2 (D2R receptors, anti-tubulin, anti-lysoganglioside-GM1 and antibody-mediated activation of calcium calmodulin dependent protein kinase II (CaMKII signaling activity are elevated in children with Sydenham's chorea (SC. Recognizing proposed clinical and autoimmune similarities between SC and PANDAS (pediatric autoimmune neuropsychiatric disorder associated with a streptococcal infection, we sought to identify serial biomarker changes in a slightly different population. Antineuronal antibodies were measured in eight children (mean 11.3 years with chronic, dramatic, recurrent tics and obsessive-compulsive disorder (OCD associated with a group A β-hemolytic streptococcal (GABHS respiratory tract infection, but differing because they lacked choreiform movements. Longitudinal serum samples in most subjects included two pre-exacerbation samples, Exac, one midst Exac (abrupt recurrence of tic/OCD; temporally association with a GABHS infection in six of eight subjects, and two post-Exac. Controls included four groups of unaffected children (n = 70; mean 10.8 years obtained at four different institutions and published controls. Clinical exacerbations were not associated with a significant rise in antineuronal antibody titers. CaMKII activation was increased at the GABHS exacerbation point in 5/6 subjects, exceeded combined and published control's 95th percentile at least once in 7/8 subjects, and median values were elevated at each time point. Anti-tubulin and anti-D2R titers did not differ from published or combined control group's 95th percentile or median values. Differences in anti-lysoganglioside-GM1 and anti-D1R titers were dependent on the selected control. Variances in antibody titers and CaMKII activation were identified among the institutional control groups. Based on comparisons to published studies, results identify two groups of PANDAS: 1 a cohort, represented by this study, which lacks

  20. Active transport of C-11-Methyl-D-Glucose and 3-F-18-Deoxyglucose in acute ischemic brain disease and Huntington's chorea, studied by positron-emission-tomography (PET)

    International Nuclear Information System (INIS)

    C-11-Methyl-D-Glucose (CMG) and 3-F-18-Deoxyglucose (3FDG) were demonstrated to be non-metabolizable glucose analogues which are transported across the blood-brain-barrier into and out of tissue via the glucose carrier system (GCS). These two substances were used as indicators for determining the perfusion-independent rate constant of GCS in the brain. Five normals with informed consent, 12 patients with acute ischemic brain disease and 9 patients with initial and advanced Huntington's chorea were examined by PET after i.v. application of 5 mCi of GMG or 3FDG. In each patient 30 transaxial images were registered in 1 selected plane, image collection time being 1 min. Time-activity curves were created from different regions of interest. The slope to tracer steady state between tissue and blood yields the perfusion-independent rate constant of GCS from tissue to blood (k/sub 2/). In normals k/sub 2/ for CMG was 0.235 +- 0.03/min, as expected, and for 3FDG 0.47 +- 0.07/min indicating a higher affinity to GCS for 3FDG than CMG. In acute ischemic brain disease k/sub 2/ was normal or reduced at the site of insult for both CMG and 3FDG. In Huntington's chorea, k/sub 2/ was reduced in the basal ganglia but normal or occasionally significantly increased in frontal or occipital cortical areas, for CMG and 3FDG. The authors conclude that CMG permits noninvasive analysis of the perfusion-independent rate constant of CCS. 3FDG shows a higher affinity for CCS than CMC but gives comparable information

  1. Double trouble: para-neoplastic anti-PCA-2 and CRMP-5-mediated small fibre neuropathy followed by chorea associated with small cell lung cancer and evolving radiological features.

    Science.gov (United States)

    Waheed, Waqar; Boyd, James; Khan, Farrah; Mount, Sharon L; Borden, Neil M; Tandan, Rup

    2016-01-01

    Patients with Purkinje cell cytoplasmic autoantibody type 2 (PCA-2) and collapsin response-mediator protein-5 (CRMP-5) autoantibody can present with multifocal elements of encephalomyeloneuropathy. Except for an anecdotal report, case descriptions of paraneoplastic small fibre neuropathy are lacking. We report paraneoplastic small fibre neuropathy followed by chorea associated with small cell lung cancer. A man aged 57 years with a 35 pack-year smoking history presented with painless subacute paresthesia and weight fluctuation. A non-length-dependent small fibre neuropathy was confirmed by skin biopsy. Further testing revealed positive serum PCA-2 and CRMP-5 autoantibodies, which after positron emission tomography-CT led to histological confirmation of a small cell lung cancer. Initially, abnormal MRI and cerebrospinal fluid studies suggested central nervous system (CNS) involvement which was subclinical; however, 6 months later during antitumour therapy, the patient became symptomatic with choreoathetosis. After combined chemoradiation as well as immunosuppressive and symptomatic therapies, the clinical course stabilised, although residual neurological deficits remained at follow-up a year later. Coexistent PCA-2 and CRMP-5 autoantibodies may occur in the setting of small fibre peripheral neuropathy and choreoathetosis and predict cancer type. Two paraneoplastic syndromes can present successively over months; subclinical CNS involvement with evolving basal ganglia abnormalities can be a paraneoplastic manifestation. In the appropriate clinical setting, paraneoplastic testing should be considered in patients presenting with small fibre neuropathy. PMID:27571910

  2. Huntington舞蹈病大脑免疫病理改变及其和痴呆精神异常的关系%Pathological and immunopathological changes in Chorea Huntington and their relationship to dementia and psychiatric symptoms

    Institute of Scientific and Technical Information of China (English)

    袁云; 陈清棠; 高唯一; 张巍; 戴三冬; 高素荣

    2001-01-01

    Objective To examine the distribution of ubiquitin positivestructures in brain of Chorea Huntington and pathological basis of cognitive and psychiatric symptoms in a large Northern-Chinese kindred.Methods A proband patient experienced a chronic onset of chorea with dementia at the age of 30 years. A few years later the patient developed psychiatric symptoms. He died at the age of 47 years. In his family there were 15 members from 5 generations who showed gradual dementia,progressive motor disability and psychiatric disturbance. Postmortem histological examination and immunohistochemical staining with antibodies against ubiquitin and Tau were performed in proband case. The distribution of ubiquitin positive dystrophic neurites and neuronal intranuclear inclusions were investigated. Results Morphologically,it was characterized by marked atrophy of bilateral striatum with loss of neurons and mild proliferation of astrocytes. Immunohistochemical study confirmed frequent appearance of ubiquitin positive neuronal intranuclear inclusions and dystrophic neurites in layer Ⅲ-V of cerebral cortex. The neuronal intranuclear ubiquitin positive inclusions usually associated with nuclear degeneration were more frequently found in frontal (22%) and parietal cortex (7%),less frequently in occipital (3%),temporal (1%) and limbic system (1%),but not found in hypocampus and striatum. Ubiquitin positive neurites distributed frequently in frontal cortex (over 5 per low field),less frequently in temporal and parietal cortex as well as limbic system (1-5 per low field),but occasionally in hypocampus and striatum. Conclusions Our study confirmed that the frequency of ubiquitin positive neuronal intranuclear inclusions and dystrophic neurites were varied markedly in different area of cerebral cortex. Owing to the marked neuropathological changes in frontal cortex,the cognitive symptoms should be considered as a frontal -subcortical dementia. The ubiquitin positive

  3. Huntington Disease (Chorea) in the Middle East

    OpenAIRE

    Scrimgeour, Euan M.

    2009-01-01

    Huntington disease (HD) has been reported in Arab families in several Middle East countries including Saudi Arabia, Oman, Syria, Lebanon, and Egypt and in non-Arab populations in other countries in the region. It is probably under-reported, and until now, has not been recorded in Yemen, the United Arab Emirates, Jordan or in Iraq. The Middle East has always been on the crossroads of trade and travel, and HD was probably introduced to some of these countries in previous times. The prevalence r...

  4. Comparison of the efficacy of carbamazepine, haloperidol and valproic acid in the treatment of children with Sydenham´s chorea: clinical follow-up of 18 patients Comparación de la eficacia de carbamazepina, haloperidol y acido valproico en el tratamiento de niños con corea de Sydenham: seguimiento clínico de 18 pacientes

    Directory of Open Access Journals (Sweden)

    Joaquín Peña

    2002-06-01

    Full Text Available In order to compare and contrast the efficacy of haloperidol, carbamazepine, and valproic acid in the treatment of Sydenham´s chorea a prospective study including 18 cases of this disorder was undertaken. Age of patients ranged from 7 to 15 years. Ten children were female and 8 were male. All but one had generalized, either symmetric or asymmetric chorea. The patients were divided in three equal groups, and were given a standardized dose of each of the drugs built-up over a week. Following therapy, the six children receiving valproic acid showed remarkable improvement, without side effects. Five patients receiving carbamazepine showed improvement without side effects. Only three of the patients that received haloperidol improved. In the 4 cases that did not show clinical improvement after one week of treatment, therapy with valproic acid led to disappearance of the symptoms in a lapse that ranged from 4 to 7 days. Recurrence related to discontinuation of treatment was observed in two patients. In view of the present results we recommend valproic acid as the first choice drug to treat Sydenham chorea.A fin de comparar y contrastar la eficacia de haloperidol, carbamazepina y ácido valproico en el tratamiento de la corea de Sydenham, se realizó un estudio prospectivo que incluyó 18 casos de esta patología. La edad de los pacientes varió de 7 a 15 años. Diez de los niños eran varones y el resto hembras. A excepción de uno de ellos, todos tenían corea generalizada, simétrica ó asimétrica. Los pacientes fueron divididos en tres grupos iguales, a cada uno de los cuales se le administró una dosis estandarizada de los medicamentos mencionados durante una semana. Luego del tratamiento, los seis pacientes que recibieron ácido valproico mostraron mejoría notable sin efectos colaterales. Cinco de los seis pacientes que recibieron carbamazepina exhibieron mejoría sin efectos colaterales. Solo tres de los pacientes que recibieron haloperidol

  5. Silencing Huntington's chorea: Is RNA Interference a Potential Cure?

    Directory of Open Access Journals (Sweden)

    Gerlinde A. Metz

    2006-01-01

    Full Text Available In 1872, George Huntington described Huntington's disease as characterized by motor, cognitive and psychiatric impairments. Huntington's disease is a dominant and autosomal mutation on chromosome 4 featuring the insertion of numerous CAG repeats. CAG codes for the amino acid, glutmanine that forms part of the Huntingtin protein (htt. Excess glutamine attachments make htt prone to accumulate in neurons. Three genes can be considered when developing therapies for Huntington's disease. They include targeting the symptoms of the disease, the progression of the disease and the cause of the disease. By using RNA interference (RNAi, the cause of the disease can be targeted. RNAi is a method that could potentially silence the formation of abnormal htt. This paper will discuss how RNAi could potentially cure Huntington's disease, by describing the genetic and proteinomic basis of Huntington's disease, the function of RNAi in Huntington's disease and the problems of benefits of RNAi. Preliminary work using RNAi in transgenic mice has shown a decrease in the behavioural expression of the mutant Huntington gene. There are several limitations associated with using RNAi as a gene therapy. For example, the effects of RNAi are short lived. A transposition system such as Sleeping Beauty can be used to increase the integration of the gene, however, for patients who currently have Huntington's disease, RNAi may potentially be used in combination with drugs or other treatments to target both symptoms and the underlying cause of Huntington's disease. This combination could eventually alleviate many painful symptoms associated with Huntington's disease and could even stop the progressive neurodegeneration of Huntington's disease. This review concludes that a substantial amount of new research is still necessary before RNAi is directly applicable to human patients with Huntington's disease.

  6. Silencing Huntington's chorea: Is RNA Interference a Potential Cure?

    OpenAIRE

    Metz, Gerlinde A.; Ian Q Whishaw; Afra Foroud; Jadavji, Nafisa M.

    2006-01-01

    In 1872, George Huntington described Huntington's disease as characterized by motor, cognitive and psychiatric impairments. Huntington's disease is a dominant and autosomal mutation on chromosome 4 featuring the insertion of numerous CAG repeats. CAG codes for the amino acid, glutmanine that forms part of the Huntingtin protein (htt). Excess glutamine attachments make htt prone to accumulate in neurons. Three genes can be considered when developing therapies for Huntington's disease. They inc...

  7. Ethical aspects of plans to combat Huntington's chorea

    OpenAIRE

    Brackenridge, C. J.

    1981-01-01

    Consideration is given to some strategies to combat Huntington's disease in the absence of treatment to arrest its progress. Ethical issues for tests such as levodopa loading, to provoke symptoms prematurely in carriers of the gene, are compared with those associated with schemes for delaying the onset of disease. The major drawback of these designs is the uncertainty that prodromal symptoms may be extended unduly and the severity of deferred symptoms worsened. Some attention is also given to...

  8. Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report

    Directory of Open Access Journals (Sweden)

    Luciano de Souza Queiroz

    1979-03-01

    Full Text Available A case of neuronal ceroid-lipofuscinosis (NCL is reported in a 11-year-old girl, whose main symptoms were progressive dementia since the age of 4 years and choreic movements since age 10. Seizures, myoclonus and visual deterioration were absent and optic fundi were normal. A cerebral biopsy disclosed two basic types of stored substance in the cytoplasm of neurons: a severely balloned nerve cells in cortical layers HI and V contained a non-autofluorescent material, which stained with PAS and Sudan Black B in frozen, but not in paraffin sections; ultrastructurally, these neurons showed abundant corpuscles similar to the membranous cytoplasmic bodies of Tay-Sachs disease and, in smaller amounts, also zebra bodies; b slightly distended or non-distended neurons in all layers contained lipopigment granules, which were autofluorescent, PAS-positive and sudanophil in both frozen and paraffin sections; their ultrastructure was closely comparable to that of lipofuscin. Similar bodies were found in the swollen segments of axons and in a few astrocytes and endothelial cells. The histochemical and ultrastructural demonstration of large amounts of lipopigments allows a presumptive classification of the case as NCL. However, the presence of involuntary movements, the absence of visual disturbances and the unusual ultrastructural features place the patient into a small heterogeneous group within the NCL. A better classification of such unique instances of the disease must await elucidation of the basic enzymatic defects.

  9. Coexistence of Gait Disturbances and Chorea in Experimental Huntington’s Disease

    OpenAIRE

    2015-01-01

    Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by an expanded CAG repeat. The clinical features are progressive motor dysfunction, cognitive deterioration, and psychiatric disturbances. Unpredictable choreic movements, among the most characteristic hallmarks, may contribute to gait disturbances and loss of balance in HD individuals. In this study, we aimed to investigate and characterize the gait abnormalities and choreic movements in a transgenic rat mode...

  10. Contribution of imaging studies and neuro physiologic investigations to the diagnosis of Huntington's chorea

    International Nuclear Information System (INIS)

    Although Huntington's disease was described in 1872, its diagnosis continues to rest on clinical grounds. Recently developed techniques for imaging the brain (computed tomography and magnetic resonance imaging) or studying its function (single photon emission computed tomography and positron emission tomography) have demonstrated only non specific abnormalities at the early stages of the disease, thus failing to improve the pre-symptomatic diagnosis. Neuro-physiologic investigations (evoked potentials, electromyogram, electroencephalogram) have been similarly unrewarding. Investigations are useful only as an laid to the differential diagnosis. Molecular biology technology is the only available tool for identifying high-risk individuals and establishing a definitive diagnosis of Huntington's disease. (authors)

  11. General Anesthesia for Dental Treatment in a Patient With Huntington's Chorea.

    Science.gov (United States)

    Haimov-Kaldess, Irena; Haim, Doron; Garfunkel, Adi

    2016-01-01

    General dentists may be challenged with treating patients with neurodegenerative brain disorders. The primary goal in general anesthesia for these patients is to provide airway protection and a rapid and safe recovery. This article discusses factors that are of significant concern to the dentistanesthesiologist team treating patients with Huntington's disease and other neurodegenerative conditions. It includes a case report that describes the treatment of a patient with a neurodegenerative disease characterized by uncontrolled movements and which required general anesthesia. The safety of the used necessary medication is accentuated. PMID:26863217

  12. Pallidal Deep Brain Stimulation in the Treatment of Huntington’s Chorea

    OpenAIRE

    Loutfi, Ghada; Linder, Jan; Hariz, Gun-Marie; Hariz, Marwan,; Blomstedt, Patric

    2014-01-01

    Despite the success of deep brain stimulation (DBS) in various movement disorders, its use in Huntington´s Disease (HD) has been limited. So far, promising results of pallidal DBS have been reported in 7 patients with HD. We performed bilateral pallidal DBS in a 59 year old woman with HD since 12 years and severe motor symptoms. At the evaluation after 12 months the effect was deemed satisfactory mainly concerning the patient’s choreatic symptoms. However, the improvement according to the uni...

  13. Gene diagonsis of Huntington's chorea%Huntington舞蹈病的基因诊断

    Institute of Scientific and Technical Information of China (English)

    杜梅君; 郑梅玲; 化爱玲; 丁琰

    2000-01-01

    IT15基因中(CAG)n三核苷酸重复序列的异常扩增是导致Huntington舞蹈病,(HD)的主要原因,我们应用巢式PCR、琼脂糖凝胶电泳等方法,通过在分子水平上检测(CAG)n的扩增片段的长度,对一家族性HD家系中自愿作症前诊断的11个高危风险者进行了基因诊断.发现正常人的扩增片段约120 bp,HD基因携带者除有1条未正常扩增片段外,还有1条异常的长约200bp的扩增片段.除HD先证者外,共检出2个HD基因携带者.为临床上进行HD高风险者的检出及随后的产前诊断,避免患儿的出生提供了一种简便、易行的检测方法.

  14. [Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family].

    Science.gov (United States)

    Salvado, Maria; Boronat-Guerrero, Susanna; Hernández-Vara, Jorge; Álvarez-Sabin, José

    2013-05-16

    Introduccion. El corea por mutacion en el gen TITF1, tambien denominado corea hereditario benigno, es un trastorno autosomico dominante que suele iniciarse antes de los 5 anos. En la mayoria de casos, el corea tiende a mejorar con la edad. Puede asociar hipotiroidismo y problemas respiratorios, como el sindrome de distres respiratorio alveolar neonatal o la enfermedad pulmonar intersticial, ya que TITF1 es un factor de transcripcion esencial para el desarrollo del cerebro, tiroides y pulmon. Casos clinicos. Presentamos el fenotipo clinico de una familia con corea, en la cual dos hermanas presentan hipotiroidismo congenito, y una de ellas, sindrome de distres respiratorio alveolar. En ambas se identifico una mutacion en TITF1 (c.825delC) y se observo mejoria clinica en respuesta al tratamiento con levodopa-carbidopa en dosis bajas. Conclusiones. El corea por mutacion de TITF1 es una causa infradiagnosticada de corea en ninos. Debido a la posibilidad de realizar diagnostico genetico, creemos indicado realizarlo siempre en casos familiares dominantes, teniendo en cuenta la penetrancia variable, asi como en pacientes que presenten afectacion concomitante de pulmon o hipotiroidismo. En casos esporadicos, puede ser recomendable en coreas de causa no filiada, lo que nos permitira evitar otras pruebas, dar un pronostico no degenerativo, permitir un consejo genetico, y hacer ensayos terapeuticos mas dirigidos y eficaces. Por el momento, la levodopa parece el tratamiento sintomatico de eleccion.

  15. A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in huntington chorea and CGG repeats in fragile X syndrome.

    Science.gov (United States)

    Todorov, Tihomir; Todorova, Albena; Georgieva, Bilyana; Mitev, Vanyo

    2010-06-01

    We report on a unified rapid betaine-based-PCR protocol for amplification of the (CAG)n region in Huntington disease (HD) and the (CGG)n region in Fragile X syndrome (FXS), followed by an electrophoretic separation on automated sequencer for precise determination of the triplet numbers. The high betaine concentration (2.5 M betaine) permits precise amplification of the CAG and CGG repeats. Ten HD affected patients and 10 healthy individuals from HD families were re-evaluated. For FXS the CGG region in normal individuals and premutations of about 100 repeats were precisely amplified by this protocol. Ten unrelated FXS premutation carriers and 24 mentally retarded non-FXS affected boys were re-examined by this method. The results totally coincided with the previous ones. This protocol is a good choice as a fast screening test. Within 24 h we can have preliminary information on the patient's genetic status. Normal individuals, CGG premutation carriers up to 100 repeats, as well as HD patients carrying an expansion up to 50 CAG repeats can be easily clarified. This accounts for a relatively large proportion (about 90%) of the suspected HD and FXS patients, referred to our laboratory for genetic analysis. The calculation of the repeat's number is more accurate for the correct interpretation of the results, screening tests and genetic counselling.

  16. A STUDY ON THE BEHAVIOUR OF HUNTINGTON’S CHOREA RAT MODELS ON ROTAROD: TREATED WITH WITHANOLIDE A AND THE ETHANOLIC EXTRACT OF WITHANIA SOMNIFERA

    Directory of Open Access Journals (Sweden)

    C. Venkatramaniah

    2015-12-01

    Full Text Available Background: Huntington’s disease (HD is a fatal neurodegenerative disease named after George Summer Huntington who first described the disorder in 1872. Huntington’s disease is associated with basal ganglia degeneration which is called as the controlling center of extra pyramidal motor system that exerts an inhibitory effect on cerebral motor cortex. This will filters the unwanted motor movements and so refines the motor movements. Degeneration of neurons of basal ganglia reduces the inhibitory output and so leads to Huntington’s disease. At present there is no cure for this disease and trials are going on to treat symptoms, slow the progress of the disease and repairing the damages caused by disease. So there is a necessity to produce an animal model of HD by using a neurotoxin kainic acid for research purpose. By this study we produced a simple and effective rat model of HD which is more mimicking the human model of HD. We also analyzed the role of the extract of a herbal plant Withania somnifera and its active principle withanolide A in preventing the nervous system of HD rat models. Results: The activity of the herbal drug was analyzed by using rotarod apparatus. Both the drug group animals behaved normally in the rotarod against the lesion control animals and proved the efficacy of the drug employed. Conclusion: Present days treatments are mostly given to reduce the progress of HD and to treat the symptoms. Complete curation of HD is not up to the mark. But by taking these herbal drugs by daily basis we can prevent the occurrence of HD as these drugs are very good in neuroprotection.

  17. Oral contraceptive pills induced hemichorea in an adolescent female with polycystic ovarian disease

    OpenAIRE

    Vijayan Sharmila; Thirunavukkarasu Arun Babu

    2015-01-01

    Chorea is a neurological adverse effect of oral contraceptive pills (OCPs). The onset of chorea following OCPs usage varies widely from few weeks to several years. We report a rare case of chorea which developed within a week of starting OCPs in an adolescent girl with polycystic ovarian disease.

  18. Oral contraceptive pills induced hemichorea in an adolescent female with polycystic ovarian disease

    Directory of Open Access Journals (Sweden)

    Vijayan Sharmila

    2015-01-01

    Full Text Available Chorea is a neurological adverse effect of oral contraceptive pills (OCPs. The onset of chorea following OCPs usage varies widely from few weeks to several years. We report a rare case of chorea which developed within a week of starting OCPs in an adolescent girl with polycystic ovarian disease.

  19. 小球藻处理养殖废水的初步研究%An Approach to the Treatment of Livestock Farming Wastewater by Ch/ore//a vu/gar/s

    Institute of Scientific and Technical Information of China (English)

    张强; 邹华; 余云龙; 郝女

    2011-01-01

    A set of simulation tests has been prepared to study the removal of organic compounds, total nitrogen and total phosphorus from livestock farming wastewater by Chlorella vulgaris under various environmental conditions. The results showed that Chlorella vulgaris could remove more nitrogen and phosphorus under light condition than in darkness whilst the degradation of organic compounds would carry out in opposite way. Higher efficiencies of nitrogen and phosphorus removal could be achieved when being shaken in darkness or placed stationarily in the light. Synergism of bacteria and Chlorella was found more effective than activated sludge or Chlorella alone in the wastewater treatment, in which Chlorella had played a major role in nitrogen and phosphorus removal.%为探讨不同环境条件及细菌对小球藻处理废水效果的影响,通过模拟试验,对小球藻去除养殖废水中有机物、总氮(TN)、总磷(TP)的能力进行了初步研究。结果表明:小球藻在光照条件下对TN、TP的去除效果较之黑暗条件下更优,但对有机污染物的降解能力下降。黑暗条件下的摇床振荡较之静置,更有利于TN.TP的去除,但光照条件下的TN,TP去除则以静置优于摇床振荡。菌藻协同处理废水可以获得比单纯藻或活性污泥更好的处理效果。

  20. Huntington Koreli Hastanın Hemşirelik Bakımı-Olgu Sunumu

    OpenAIRE

    DAĞCI, Selma; ÖREN, Besey

    2015-01-01

    Huntington’s chorea is a neurodegenerative disease of autosomal dominant inheritance and presents with motor findings such as dystonia, psychiatric disorder, and progressive dementia. Nursing care is of crucial importance in cases with Huntington’s chorea because the disease has profound effects on the biological, physiological, socio-cultural, and economic domains. Thus, nurses who provide care for patients with Huntington’s chorea should know about the disease and its diagnosis and treatmen...

  1. Eisenablagerungen in den Basalganglien bei Morbus Huntington

    OpenAIRE

    Leske, Daniel

    2008-01-01

    Diese Arbeit untersucht mittels MRT nachgewiesene Eisenablagerungen in den Basalganglien bei Patienten mit Chorea Huntington. Diese werden besonders im Putamen und Nucleus caudatus gefunden. Das erste Ziel war es, nachzuweisen, wie objektiv dieses Verfahren bei der Diagnostik von Patienten mit Chorea Huntington ist. Dazu legten wir getrennt zwei Neuroradiologen die Bilder von 40 Patienten mit genetisch nachgewiesener Chorea Huntington vor. Dabei ergab sich in fast allen Fällen eine sehr gute ...

  2. Disease: H00832 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available McLeod syndrome (MLS); Huntington's disease-like 2 (HDL2); Pantothenate kinase associated neurodegeneration...H00832 Core neuroacanthocytosis syndromes, including: Chorea-acanthocytosis (ChAc);

  3. Disease: H00655 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00655 McLeod syndrome McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epilep...sy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the er

  4. Huntington disease

    Science.gov (United States)

    Huntington chorea ... Huntington disease is caused by a genetic defect on chromosome 4. The defect causes a part of ... 10 to 28 times. But in persons with Huntington disease, it is repeated 36 to 120 times. ...

  5. Role of Ca+2 and other second messengers in excitatory amino acid receptor mediated neurodegeneration: clinical perspectives

    DEFF Research Database (Denmark)

    Schousboe, A; Belhage, B; Frandsen, A

    1997-01-01

    Neurodegeneration associated with neurological disorders such as epilepsy, Huntington's Chorea, Alzheimer's disease, and olivoponto cerebellar atrophy or with energy failure such as ischemia, hypoxia, and hypoglycemia proceeds subsequent to overexposure of neurons to excitatory amino acids of which...

  6. Treatment of Huntington chorea after cerebral hemorrhage using clozapine at minimum dose(a report of one case)%极小剂量氯氮平治疗脑出血后偏身舞蹈症一例报道(附文献复习)

    Institute of Scientific and Technical Information of China (English)

    顾喜喜; 蔡定芳; 范越; 李文伟

    2006-01-01

    @@ 舞蹈症是指肢体的某一部分或全身明显的,不规则,无目的的,舞蹈样的,急速的,不自主动作,可出现于多种疾病病程中.舞蹈症的确切损害尚不清楚,可能是壳核,尾核(如国外多见的Huntington 舞蹈病),对侧的Luys丘脑底核及其附近的损害,舞蹈症只是一种症状,可以在许多疾病病程中出现,脑部血管性疾病如丘脑附近出血、梗塞,钙化,动静脉畸形,血管瘤,烟雾病等均可导致舞蹈症的发生.

  7. Effect of Tetrabenazine on Motor Function in Patients with Huntington Disease

    OpenAIRE

    Ferrara, Joseph M.; Mostile, Giovanni; Hunter, Christine; Adam, Octavian R.; Jankovic, Joseph

    2012-01-01

    Introduction Tetrabenazine (TBZ) reduces chorea related to Huntington disease (HD); however, it is uncertain whether this effect improves functionally relevant motor skills such as hand coordination and balance. The objective of this study was to provide pilot data regarding three motor function tests, which might be useful in monitoring symptom progression and therapeutic response, pending formal validation. Methods The authors assessed 11 ambulatory patients with HD-related chorea on two oc...

  8. Facial cellulitis revealing choreo-acanthocytosis: a case report

    OpenAIRE

    Samia, Younes; Yosra, Cherif; Foued, Bellazreg; Mouna, Aissi; Olfa, Berriche; Jihed, Souissi; Hammadi, Braham; Mahbouba, Frih-Ayed; Amel, Letaief; Habib, Sfar Mohamed

    2014-01-01

    We report a 62 year-old-man with facial cellulitis revealing choreo-acanthocytosis (ChAc). He showed chorea that started 20 years ago. The orofacial dyskinisia with tongue and cheek biting resulted in facial cellulitis. The peripheral blood smear revealed acanthocytosis of 25%. The overall of chorea, orofacial dyskinetic disorder, peripheral neuropathy, disturbed behavior, acanthocytosis and the atrophy of caudate nuclei was suggestive of a diagnosis of ChAc. To our knowledge no similar cases...

  9. Clozapine versus placebo in Huntington's disease: a double blind randomised comparative study

    OpenAIRE

    Vugt, J.P.P. van; Siesling, S.; Vergeer, M; van der Velde, E A; R. Roos

    1997-01-01

    OBJECTIVES—To establish the effect of the atypical neuroleptic clozapine on chorea, voluntary motor performance, and functional disability in patients with Huntington's disease.
METHODS—Thirty three patients with Huntington's disease participated in a double blind randomised trial. A maximum of 150 mg/day clozapine or placebo equivalent was given for a period of 31 days. Assessments were performed in the week before and at the last day of the trial. Chorea was scored usin...

  10. Computerized tomography in amyotrophic choreo-acanthocytosis

    International Nuclear Information System (INIS)

    CT has been performed in five patients affected by amyotrophic choreo-acanthocytosis (ACA) and bicaudate diameter, bicaudate index and frontal horn-bicaudate ratio (FH/CC) have been evaluated. Findings have been confirmatory of caudate nuclei atrophy as shown by previous ACA autopsy reports, but did not differ from Huntington's chorea CT picture. There was no correlation between CT measurements and age, illness duration or degree of hyperkinesia in contradistinction to that reported for Huntington's chorea. (orig.)

  11. Deep brain stimulation of the internal pallidum in Huntington's disease patients: clinical outcome and neuronal firing patterns.

    Science.gov (United States)

    Delorme, Cécile; Rogers, Alister; Lau, Brian; Francisque, Hélène; Welter, Marie-Laure; Fernandez Vidal, Sara; Yelnik, Jérôme; Durr, Alexandra; Grabli, David; Karachi, Carine

    2016-02-01

    Deep brain stimulation (DBS) of the internal globus pallidus (GPi) could treat chorea in Huntington's disease patients. The objectives of this study were to evaluate the efficacy of GPi-DBS to reduce abnormal movements of three patients with Huntington's disease and assess tolerability. Three non-demented patients with severe pharmacoresistant chorea underwent bilateral GPi-DBS and were followed for 30, 24, and 12 months, respectively. Primary outcome measure was the change of the chorea and total motor scores of the Unified Huntington's Disease Rating Scale between pre- and last postoperative assessments. Secondary outcome measures were motor changes between ventral versus dorsal and between on- and off- GPi-DBS. GPi neuronal activities were analyzed and compared to those obtained in patients with Parkinson's disease. No adverse effects occurred. Chorea decreased in all patients (13, 67 and 29%) postoperatively. Total motor score decreased in patient 2 (19.6%) and moderately increased in patients 1 and 3 (17.5 and 1.7%), due to increased bradykinesia and dysarthria. Ventral was superior to dorsal GPi-DBS to control chorea. Total motor score increased dramatically off-stimulation compared to ventral GPi-DBS (70, 63 and 19%). Cognitive and psychic functions were overall unchanged. Lower mean rate and less frequent bursting activity were found in Huntington's disease compared to Parkinson's disease patients. Ventral GPi-DBS sustainably reduced chorea, but worsened bradykinesia and dysarthria. Based on these results and previous published reports, we propose to select non-demented HD patients with severe chorea, and a short disease evolution as the best candidates for GPi-DBS. PMID:26568561

  12. A Case Of Transient Ischemic Attack Presenting As Hemichroea

    Directory of Open Access Journals (Sweden)

    Hasan Hüseyin Özdemir

    2013-12-01

    Full Text Available Chorea is defined as; involuntary movements of the distal parts of limbs which have arrhythmic, rapid, bouncing or smooth, simple or complex properties. Choreiform movements occur when putamen, globus pallidus and subthalamic nucleus are affected. Chorea can be observed during the course of metabolic and vascular diseases, neurodegenerative or hereditary diseases. Chorea may be a rare symptom of cerebral hypoperfusion. Transient ischemic attack is an event that occurs in short term characterized by a temporary ischemia of brain. A wide variety of symptoms can be seen depending on the localization of cerebral hypoperfusion. Hemichorea is a very rare finding observed during transient ischemic attacks. In this article hemichorea in a case of symptomatic transient ischemic attack is discussed with relevant literature.

  13. Two new species of Dicranomyia Stephens, 1829, with notes on related species (Diptera, Limoniidae)

    NARCIS (Netherlands)

    Geiger, Willy

    1985-01-01

    Dicranomyia (D.) lorettae sp.n. and Dicranomyia (D.) mattheyi sp.n. are described. Comments are given on the relationship of the new species and the chorea group sensu Lackschewitz & Pagast, 1941. The synonymy of Dicranomyia hygropetrica Vaillant, 1952, and Dicranomyia mitis (Meigen, 1830) is establ

  14. Paroxysmal kinesigenic dyskinesia : Cortical or non-cortical origin

    NARCIS (Netherlands)

    van Strien, Teun W.; van Rootselaar, Anne-Fleur; Hilgevoord, Anthony A. J.; Linssen, Wim H. J. P.; Groffen, Alexander J. A.; Tijssen, Marina A. J.

    2012-01-01

    Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on the controversy whether PKD has a cortical or non-co

  15. 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.

  16. Disease: H00860 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available 70] [KO:K15225] ICD-10: G25.5 MeSH: D002819 OMIM: 118700 PMID:19501334 (description, gene) Gilbert DL Acute and chronic chorea in chi...ldhood. Semin Pediatr Neurol 16:71-6 (2009) PMID:21292530 (description, gene) Inzel

  17. Abnormal red cell features associated with hereditary neurodegenerative disorders: the neuroacanthocytosis syndromes

    NARCIS (Netherlands)

    Franceschi, L. De; Bosman, G.J.C.G.M.; Mohandas, N.

    2014-01-01

    PURPOSE OF REVIEW: This review discusses the mechanisms involved in the generation of thorny red blood cells (RBCs), known as acanthocytes, in patients with neuroacanthocytosis, a heterogenous group of neurodegenerative hereditary disorders that include chorea-acanthocytosis (ChAc) and McLeod syndro

  18. Is Tourette's syndrome an autoimmune disease?

    NARCIS (Netherlands)

    Hoekstra, PJ; Kallenberg, CGM; Korf, J; Minderaa, RB

    2002-01-01

    We provide a review of recent research findings which support the involvement of autoimmunity in childhood-onset tic disorders, in particular the presence of antineuronal autoantibodies, D8/17 B lymphocyte overexpression, a marker of chorea associated with streptococcal infection, and possible benef

  19. Continuous drug delivery in early- and late-stage Parkinson's disease as a strategy for avoiding dyskinesia induction and expression

    NARCIS (Netherlands)

    Jenner, P.; McCreary, A. C.; Scheller, D. K. A.

    2011-01-01

    The treatment of the motor symptoms of Parkinson's disease (PD) is dependent on the use of dopamine replacement therapy in the form of l-dopa and dopamine agonist drugs. However, the development of dyskinesia (chorea, dystonia, athetosis) can become treatment limiting. The initiation of dyskinesia i

  20. Reversal Learning and Associative Memory Impairments in a BACHD Rat Model for Huntington Disease

    NARCIS (Netherlands)

    Abada, Yah-se K.; Nguyen, Huu Phuc; Ellenbroek, Bart; Schreiber, Rudy

    2013-01-01

    Chorea and psychiatric symptoms are hallmarks of Huntington disease (HD), a neurodegenerative disorder, genetically characterized by the presence of expanded CAG repeats (>35) in the HUNTINGTIN (HTT) gene. HD patients present psychiatric symptoms prior to the onset of motor symptoms and we recently

  1. A new strategy for mapping the human genome.

    OpenAIRE

    Shaw, D. J.

    1986-01-01

    Recent advances in agarose gel electrophoresis of large DNA fragments raise the possibility of an entirely new approach to mapping mammalian genomes. In this article is discussed the potential of this technology for tackling problems such as construction of linkage maps, identifying chromosome translocation breakpoints, and moving from linked markers to genes causing diseases such as the muscular dystrophies and Huntington's chorea.

  2. Cortical perfusion, oxygen consumption, transport and consumption of glucose in symptomatic Huntington patients

    International Nuclear Information System (INIS)

    This paper describes results of central blook flow (CBF), CMRO2, glucose transport and ICMRglu with PET in patients suffering from HD (Huntington's disease) chorea with midstage symptoms. The results are compared with those obtained in normals. (author). 22 refs.; 6 figs

  3. Effect of neuroleptic treatment on involuntary movements and motor performances in Huntington's disease.

    OpenAIRE

    Girotti, F.; Carella, F; Scigliano, G; Grassi, M P; Soliveri, P; Giovannini, P.; Parati, E.; Caraceni, T

    1984-01-01

    Eighteen patients with Huntington's chorea were examined before and after neuroleptic treatment (haloperidol, pimozide, tiapride) to study the effect of such treatment on hyperkinesia and motor performance. Pimozide and haloperidol improved hyperkinesia; none of the drugs significantly affected motor performance. No correlation was found between the severity of hyperkinesia and motor performance scores, or between hyperkinesia and intelligence score, before and after therapy.

  4. Ethical dilemmas in clinical genetics.

    OpenAIRE

    Young, I D

    1984-01-01

    This paper discusses the results of a survey of medical and paramedical opinion relating to various difficult ethical issues in clinical genetics. These include the confidentiality of the doctor-patient relationship, prenatal diagnosis and termination, and Huntington's chorea. It is suggested that this method provides a useful means of assessing what is ethically acceptable in contemporary society.

  5. Suicide and patients with neurologic diseases. Methodologic problems

    DEFF Research Database (Denmark)

    Stenager, E N; Stenager, Egon

    1992-01-01

    /statistical methods used; and (5) validity of statistics reported. DATA SYNTHESIS: We analyzed the methodologic problems in studies of patients with multiple sclerosis, epilepsy, Huntington's chorea, spinal cord lesions, cranial trauma, brain tumors, Parkinson's disease, vascular disorders, and migraine. In most...

  6. Lesions in basal ganglia in a patient with involuntary movements as a first sign of diabetes - case report and review of the literature

    International Nuclear Information System (INIS)

    We present a case of unilateral hyper density of the lentiform and caudate nucleus on CT with hyperintensity on T1-weighted images on MRI in a 71-year-old woman with hemi chorea-hemiballismand recently diagnosed diabetes. (authors)

  7. Chorein Sensitive Arrangement of Cytoskeletal Architecture

    Directory of Open Access Journals (Sweden)

    Sabina Honisch

    2015-08-01

    Full Text Available Background/Aims: Chorein is a protein expressed in various cell types. Loss of function mutations of the chorein encoding gene VPS13A lead to chorea-acanthocytosis, an autosomal recessive genetic disease characterized by movement disorder and behavioral abnormalities. Recent observations revealed that chorein is a powerful regulator of actin cytoskeleton in erythrocytes, platelets, K562 and endothelial HUVEC cells. Methods: In the present study we have used Western blotting to study actin polymerization dynamics, laser scanning microscopy to evaluate in detail the role of chorein in microfilaments, microtubules and intermediate filaments cytoskeleton architecture and RT-PCR to assess gene transcription of the cytoskeletal proteins. Results: We report here powerful depolymerization of actin microfilaments both, in erythrocytes and fibroblasts isolated from chorea-acanthocytosis patients. Along those lines, morphological analysis of fibroblasts from chorea-acanthocytosis patients showed disarranged microtubular network, when compared to fibroblasts from healthy donors. Similarly, the intermediate filament networks of desmin and cytokeratins showed significantly disordered organization with clearly diminished staining in patient's fibroblasts. In line with this, RT-PCR analysis revealed significant downregulation of desmin and cytokeratin gene transcripts. Conclusion: Our results provide for the first time evidence that defective chorein is accompanied by significant structural disorganization of all cytoskeletal structures in human fibroblasts from chorea-acanthocytosis patients.

  8. Plants and phytochemicals for Huntington′s disease

    Directory of Open Access Journals (Sweden)

    Sunayna Choudhary

    2013-01-01

    Full Text Available Huntington′s disease (HD is a neurodegenerative disorder characterized by progressive motor dysfunction, including chorea and dystonia, emotional disturbances, memory, and weight loss. The medium spiny neurons of striatum and cortex are mainly effected in HD. Various hypotheses, including molecular genetics, oxidative stress, excitotoxicity, metabolic dysfunction, and mitochondrial impairment have been proposed to explain the pathogenesis of neuronal dysfunction and cell death. Despite no treatment is available to fully stop the progression of the disease, there are treatments available to help control the chorea. The present review deals with brief pathophysiology of the disease, plants and phytochemicals that have shown beneficial effects against HD like symptoms. The literature for the current review was collected using various databases such as Science direct, Pubmed, Scopus, Sci-finder, Google Scholar, and Cochrane database with a defined search strategy.

  9. Positron computed tomography studies: potential use in neuro-psychiatric disorders

    International Nuclear Information System (INIS)

    Since November 1979 positron computed tomography (PCT) have been performed to study subjects in a variety of states and varied disorders, using 13NH3, 11CO and 18F-2-fluorodeoxyglucose (18FDG) at the National Institute of Radiological Sciences, Japan. In neuro-psychiatric studies, normal volunteers and patients including schizophrenia, affective disorders, Alzheimer's disease, Huntigton's chorea were studied. Tomographic images were analyzed by visual observation and activity counting in regions selected. In degenerative disorder group, 18FDG revealed decreased accumulation in target areas, whereas in functional psychosis group both in medicating patients and in non-medicated patients, positron images were basically similar to normal controls. Especially in a patient with Huntington's chorea, 18FDG accumulation in striatal region was markedly decreased without significant change in the same region on X-ray CT and 13NH3 PCT

  10. Neuroimaging findings in movement disorders

    International Nuclear Information System (INIS)

    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

  11. Dose-dependent improvement of myoclonic hyperkinesia due to Valproic acid in eight Huntington's Disease patients: a case series

    Directory of Open Access Journals (Sweden)

    Przuntek Horst

    2006-02-01

    Full Text Available Abstract Background Chorea in Huntington's Disease (HD is usually treated with antidopaminergic neuroleptics like haloperidol, olanzapine and tiaprid or dopamine depleting drugs like tetrabenazine. Some patients with hyperkinesia, however, react to treatment with antidopaminergic drugs by developing extrapyramidal side effects. In earlier studies valproic acid showed no beneficial effect on involuntary choreatic movements. Myoclonus is rare in HD and is often overseen or misdiagnosed as chorea. Methods In this report, we present eight patients whose main symptom is myoclonic hyperkinesia. All patients were treated with valproic acid and scored by using the Unified Huntington's Disease Rating Scale (UHDRS motor score before and after treatment. In addition to this, two patients agreed to be videotaped. Results In seven patients myoclonus and, therefore the UHDRS motor score improved in a dose dependent manner. In three of these patients antidopaminergic medication could be reduced. Conclusion In the rare subgroup of HD patients suffering from myoclonic hyperkinesia, valproic acid is a possible alternative treatment.

  12. Clinical and molecular research of neuroacanthocytosis

    Institute of Scientific and Technical Information of China (English)

    Lihong Zhang; Suping Wang; Jianwen Lin

    2013-01-01

    Neuroacanthocytosis is an autosomal recessive or dominant inherited disease characterized by widespread, non-specific nervous system symptoms, or spiculated "acanthocytic" red blood cells. The clinical manifestations typically involve chorea and dystonia, or a range of other movement disorders. Psychiatric and cognitive symptoms may also be present. The two core neuroacanthocytosis syndromes, in which acanthocytosis is atypical, are autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome. Acanthocytes are found in a smaller proportion of patients with Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration. Because the clinical manifestations are diverse and complicated, in this review we present features of inheritance, age of onset, neuroimaging and laboratory findings, as well as the spectrum of central and peripheral neurological abnormalities and extraneuronal involvement to help distinguish the four specific syndromes.

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

    OpenAIRE

    Ezquerra M; Compta Y; Marti MJ

    2011-01-01

    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 varyi...

  14. Multiple Aspects of Gene Dysregulation in Huntington’s Disease

    OpenAIRE

    JocelyneCaboche

    2013-01-01

    Huntington’s Disease (HD) is a genetic neurodegenerative disease caused by a CAG expansion in the gene encoding Huntingtin (Htt). It is characterized by chorea, cognitive, and psychiatric disorders. The most affected brain region is the striatum, and the clinical symptoms are directly correlated to the rate of striatal degeneration. The wild-type Htt is a ubiquitous protein and its deletion is lethal. Mutated (expanded) Htt produces excitotoxicity, mitochondrial dysfunctions, axonal transport...

  15. Postpartum spontaneous colonic perforation due to antiphospholipid syndrome

    OpenAIRE

    Ahmed, Kamran; Darakhshan, Amir; Au, Eleanor; Khamashta, Munther A; Katsoulis, Iraklis E

    2009-01-01

    The antiphospholipid syndrome (APS) is a multi-systemic disease being characterized by the presence of antiphospholipid antibodies that involves both arterial and venous systems resulting in arterial or venous thrombosis, fetal loss, thrombocytopenia, leg ulcers, livedo reticularis, chorea, and migraine. We document a previously unreported case of a 37-year-old female in whom APS was first manifested by infarction and cecal perforation following cesarean section. At laparotomy the underlying ...

  16. Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections (PANDAS): Experience at a Tertiary Referral Center

    OpenAIRE

    Helm, Caitlin E.; Blackwood, R. Alexander

    2015-01-01

    Background Pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS) is an autoimmune disorder presenting with obsessive compulsive disorder and/or tics. Like Sydenham’s chorea, its presumed pathogenesis consists of autoantibodies cross-reacting with neurons in response to a group A beta-hemolytic streptococcal infection (GASI). There are currently no diagnostic laboratory findings and management ranges from antibiotic prophylaxis to intravenous immunogl...

  17. Neurologic emergencies in pregnancy.

    Science.gov (United States)

    Donaldson, J O

    1991-06-01

    Any one neurologic emergency is rare during pregnancy. As a group, neurologic disorders are a major cause of maternal mortality. Optimal management requires a multidisciplinary approach and ready access to the collective experience of other clinicians. This article discusses the management of status epilepticus, eclamptic hypertensive encephalopathy, stroke, including subarachnoid hemorrhage, myasthenic crisis, porphyric crisis, acute Guillain-Barré syndrome, autonomic hyperreflexia, malignant hyperthermia, chorea gravidarum, and Wernicke's encephalopathy. PMID:1945251

  18. Behavioral Characterization of Mouse Models of Neuroferritinopathy

    OpenAIRE

    Sara Capoccia; Federica Maccarinelli; Barbara Buffoli; Luigi F Rodella; Ottavio Cremona; Paolo Arosio; Francesca Cirulli

    2015-01-01

    Ferritin is the main intracellular protein of iron storage with a central role in the regulation of iron metabolism and detoxification. Nucleotide insertions in the last exon of the ferritin light chain cause a neurodegenerative disease known as Neuroferritinopathy, characterized by iron deposition in the brain, particularly in the cerebellum, basal ganglia and motor cortex. The disease progresses relentlessly, leading to dystonia, chorea, motor disability and neuropsychiatry features. The ch...

  19. A Prospective Pilot Trial for Pallidal Deep Brain Stimulation in Huntington’s Disease

    OpenAIRE

    Wojtecki, Lars; Groiss, Stefan J.; Ferrea, Stefano; Elben, Saskia; Hartmann, Christian J.; Dunnett, Stephen B; Rosser, Anne; Saft, Carsten; Südmeyer, Martin; Ohmann, Christian; Schnitzler, Alfons; Vesper, Jan

    2015-01-01

    Background Movement disorders in Huntington’s disease are often medically refractive. The aim of the trial was assessment of procedure safety of deep brain stimulation, equality of internal- and external-pallidal stimulation and efficacy followed-up for 6 months in a prospective pilot trial. Methods In a controlled double-blind phase six patients (four chorea-dominant, two Westphal-variant) with predominant movement disorder were randomly assigned to either the sequence of 6-week i...

  20. Dose-dependent improvement of myoclonic hyperkinesia due to Valproic acid in eight Huntington's Disease patients: a case series

    OpenAIRE

    Przuntek Horst; Kraus Peter H; Lauter Thorsten; Saft Carsten; Andrich Juergen E

    2006-01-01

    Abstract Background Chorea in Huntington's Disease (HD) is usually treated with antidopaminergic neuroleptics like haloperidol, olanzapine and tiaprid or dopamine depleting drugs like tetrabenazine. Some patients with hyperkinesia, however, react to treatment with antidopaminergic drugs by developing extrapyramidal side effects. In earlier studies valproic acid showed no beneficial effect on involuntary choreatic movements. Myoclonus is rare in HD and is often overseen or misdiagnosed as chor...

  1. Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease

    OpenAIRE

    Benti, R.; Ciammola, A.; Mencacci, N.; Poletti, B.; Sassone, J.; Silani, V.

    2011-01-01

    Huntington's disease (HD) is a rare hereditary neurodegenerative disorder characterized in over 90 percent of cases by chorea as the presenting motor symptom. We report a 54-year-old male who presented with Parkinsonism as the initial symptom of the disease. Genetic analysis revealed expansion of 40 CAG repeats, and brain MRI showed both severe caudate nuclei and cortical atrophy. Single-photon emission computed tomography (SPECT) imaging of the dopamine transporter showed nigrostriatal pathw...

  2. Mutant Huntingtin, Abnormal Mitochondrial Dynamics, Defective Axonal Transport of Mitochondria, and Selective Synaptic Degeneration in Huntington’s Disease

    OpenAIRE

    Reddy, P. Hemachandra; Shirendeb, Ulziibat P.

    2011-01-01

    Huntington’s disease (HD) is a progressive, fatal neurodegenerative disease caused by an expanded polyglutamine repeats in the HD gene. HD is characterized by chorea, seizures, involuntary movements, dystonia, cognitive decline, intellectual impairment and emotional disturbances. Research into mutant huntingtin (Htt) and mitochondria has found that mutant Htt interacts with the mitochondrial protein dynamin-related protein 1 (Drp1), enhances GTPase Drp1 enzymatic activity, and causes excessiv...

  3. Exendin-4 Improves Glycemic Control, Ameliorates Brain and Pancreatic Pathologies, and Extends Survival in a Mouse Model of Huntington's Disease

    OpenAIRE

    Martin, Bronwen; Golden, Erin; Carlson, Olga D.; Pistell, Paul; Zhou, Jie; Kim, Wook; Frank, Brittany P.; Sam THOMAS; Chadwick, Wayne A.; Greig, Nigel H.; Bates, Gillian P.; Sathasivam, Kirupa; Bernier, Michel; Maudsley, Stuart; Mattson, Mark P.

    2009-01-01

    OBJECTIVE—The aim of this study was to find an effective treatment for the genetic form of diabetes that is present in some Huntington's disease patients and in Huntington's disease mouse models. Huntington's disease is a neurodegenerative disorder caused by a polyglutamine expansion within the huntingtin protein. Huntington's disease patients exhibit neuronal dysfunction/degeneration, chorea, and progressive weight loss. Additionally, they suffer from abnormalities in energy metabolism affec...

  4. Molecular diagnostic analysis for Huntington's disease: a prospective evaluation.

    OpenAIRE

    MacMillan, J C; Davies, P; P.S. Harper

    1995-01-01

    The availability of mutation analysis for the CAG repeat expansion associated with Huntington's disease has prompted clinicians in various specialties to request testing of samples from patients displaying clinical features that might be attributable to Huntington's disease. A series of 38 cases presenting with clinical features thought possibly to be due to Huntington's disease were analysed prospectively. In 53% of such cases presenting initially with chorea and 62.5% with psychiatric sympt...

  5. Huntington’s Disease and Striatal Signaling

    OpenAIRE

    Roze, Emmanuel; Cahill, Emma; Martin, Elodie; Bonnet, Cecilia; Vanhoutte, Peter; Betuing, Sandrine; Caboche, Jocelyne

    2011-01-01

    Huntington’s Disease (HD) is the most frequent neurodegenerative disease caused by an expansion of polyglutamines (CAG). The main clinical manifestations of HD are chorea, cognitive impairment, and psychiatric disorders. The transmission of HD is autosomal dominant with a complete penetrance. HD has a single genetic cause, a well-defined neuropathology, and informative pre-manifest genetic testing of the disease is available. Striatal atrophy begins as early as 15 years before disease onset a...

  6. Xyloketal-derived small molecules show protective effect by decreasing mutant Huntingtin protein aggregates in Caenorhabditis elegans model of Huntington’s disease

    OpenAIRE

    Zeng, Yixuan; Guo, Wenyuan; Xu, Guangqing; Wang, Qinmei; Feng, Luyang; Long, Simei; Liang, Fengyin; Huang, Yi; Lu, Xilin; Li, Shichang; Zhou, Jiebin; Burgunder, Jean-Marc; Pang, Jiyan; Pei, Zhong

    2016-01-01

    Huntington’s disease is an autosomal-dominant neurodegenerative disorder, with chorea as the most prominent manifestation. The disease is caused by abnormal expansion of CAG codon repeats in the IT15 gene, which leads to the expression of a glutamine-rich protein named mutant Huntingtin (Htt). Because of its devastating disease burden and lack of valid treatment, development of more effective therapeutics for Huntington’s disease is urgently required. Xyloketal B, a natural product from mangr...

  7. Tetrabenazine in the treatment of Huntington’s disease

    OpenAIRE

    Paleacu, Diana

    2007-01-01

    Tetrabenazine (TBZ), a catecholamine-depleting agent initially developed for the treatment of schizophrenia, when tested for other indications, has proven to be more useful for the treatment of a variety of hyperkinetic movement disorders. These disorders include neurological diseases characterized by abnormal involuntary movements such as chorea associated with Huntington’s disease, tics in Tourette’s syndrome, dyskinesias and dystonias in tardive dyskinesia, also primary dystonias and myocl...

  8. Altered Fractional Anisotropy in Early Huntington's Disease

    OpenAIRE

    Singh, Silky; Mehta, Hasit; Fekete, Robert

    2013-01-01

    Huntington's disease (HD) is a dominantly inherited neurodegenerative disease best known for chorea. The disorder includes numerous other clinical features including mood disorder, eye movement abnormalities, cognitive disturbance, pendular knee reflexes, motor impersistence, and postural instability. We describe a mild case of HD early in the disease course with depression and subtle neurological manifestations. In addition, we review MRI and diffusion tensor imaging features in this patient...

  9. Cell Therapy Strategies vs. Paracrine Effect in Huntington’s Disease

    OpenAIRE

    Wooseok Im; Manho Kim

    2014-01-01

    Huntington’s disease (HD) is a genetic neurodegenerative disorder. The most common symptom of HD is abnormal involuntary writhing movements, called chorea. Antipsychotics and tetrabenazine are used to alleviate the signs and symptoms of HD. Stem cells have been investigated for use in neurodegenerative disorders to develop cell therapy strategies. Recent evidence indicates that the beneficial effects of stem cell therapies are actually mediated by secretory molecules, as well as cell replacem...

  10. Preserving cortico-striatal function: Deep brain stimulation in Huntington's disease

    OpenAIRE

    Nagel, Sean J.; John Thomas Gale; Mayur Pandya

    2015-01-01

    Huntington’s disease (HD) is an incurable neurodegenerative disease characterized by the triad of chorea, cognitive dysfunction and psychiatric disturbances. Since the discovery of the HD gene, the pathogenesis has been outlined, but to date a cure has not been found. Disease modifying therapies are needed desperately to improve function, alleviate suffering, and provide hope for symptomatic patients. Deep brain stimulation (DBS), a proven therapy for managing the symptoms of some neurodegene...

  11. Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting.

    OpenAIRE

    Ridley, R. M.; Frith, C.D.; Farrer, L A; Conneally, P M

    1991-01-01

    The interaction of symptomatology (rigidity/chorea) in Huntington's disease (HD) with age of onset (AO) was examined using data from the Research Roster for Huntington's Disease Patients and Families. It was shown that AO varies between families and between paternal and maternal transmission and that rigidity is associated specifically with very early onset, major anticipation, paternal transmission, and young parental AO. It is proposed that AO depends on the state of methylation of the HD l...

  12. Plants and phytochemicals for Huntington's disease

    OpenAIRE

    Sunayna Choudhary; Puneet Kumar; Jai Malik

    2013-01-01

    Huntington′s disease (HD) is a neurodegenerative disorder characterized by progressive motor dysfunction, including chorea and dystonia, emotional disturbances, memory, and weight loss. The medium spiny neurons of striatum and cortex are mainly effected in HD. Various hypotheses, including molecular genetics, oxidative stress, excitotoxicity, metabolic dysfunction, and mitochondrial impairment have been proposed to explain the pathogenesis of neuronal dysfunction and cell death. Despite no tr...

  13. Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype

    OpenAIRE

    Guilherme Riccioppo Rodrigues; Walker, Ruth H.; Benedikt Bader; Adrian Danek; Alexis Brice; Cécile Cazeneuve; Odile Russaouen; Iscia Lopes-Cendes; Wilson Marques Jr; Vitor Tumas

    2011-01-01

    Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington’s disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidol...

  14. Deep Brain Stimulation in Huntington’s Disease—Preliminary Evidence on Pathophysiology, Efficacy and Safety

    Directory of Open Access Journals (Sweden)

    Lars Wojtecki

    2016-08-01

    Full Text Available Huntington’s disease (HD is one of the most disabling degenerative movement disorders, as it not only affects the motor system but also leads to cognitive disabilities and psychiatric symptoms. Deep brain stimulation (DBS of the pallidum is a promising symptomatic treatment targeting the core motor symptom: chorea. This article gives an overview of preliminary evidence on pathophysiology, safety and efficacy of DBS in HD.

  15. Huntington disease and Huntington disease-like in a case series from Brazil.

    Science.gov (United States)

    Castilhos, R M; Souza, A F D; Furtado, G V; Gheno, T C; Silva, A L; Vargas, F R; Lima, M-A F D; Barsottini, O; Pedroso, J L; Godeiro, C; Salarini, D; Pereira, E T; Lin, K; Toralles, M-B; Saute, J A M; Rieder, C R; Quintas, M; Sequeiros, J; Alonso, I; Saraiva-Pereira, M L; Jardim, L B

    2014-10-01

    The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non-HD cases. In HD, the median expanded (CAG)n (range) was 44 (40-81) units; R(2) between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.

  16. Clinics in diagnostic imaging (166)

    OpenAIRE

    Goh, Lin Wah; Chinchure, Dinesh; Lim, Tze Chwan

    2016-01-01

    A 68-year-old woman with poorly controlled diabetes mellitus presented to the emergency department with choreoathetoid movements affecting the upper and lower left limbs. Computed tomography of the brain did not show any intracranial abnormalities. However, subsequent magnetic resonance (MR) imaging of the brain revealed an increased T1 signal in the right basal ganglia, raising the suspicion of nonketotic hyperglycaemic chorea-hemiballismus. Management consisted of adjusting her insulin dose...

  17. A tale of two maladies? Pathogenesis of depression with and without the Huntington’s disease gene mutation

    OpenAIRE

    Xin eDu; Pang, Terence Y. C.; Anthony John Hannan

    2013-01-01

    Huntington’s disease (HD) is an autosomal dominant disorder caused by a tandem repeat expansion encoding an expanded tract of glutamines in the huntingtin protein. HD is progressive and manifests as psychiatric symptoms (including depression), cognitive deficits (culminating in dementia) and motor abnormalities (including chorea). Having reached the 20th anniversary of the discovery of the ‘genetic stutter’ which causes HD, we still lack sophisticated insight into why so many HD patients ex...

  18. Deep Brain Stimulation in Huntington's Disease-Preliminary Evidence on Pathophysiology, Efficacy and Safety.

    Science.gov (United States)

    Wojtecki, Lars; Groiss, Stefan Jun; Hartmann, Christian Johannes; Elben, Saskia; Omlor, Sonja; Schnitzler, Alfons; Vesper, Jan

    2016-01-01

    Huntington's disease (HD) is one of the most disabling degenerative movement disorders, as it not only affects the motor system but also leads to cognitive disabilities and psychiatric symptoms. Deep brain stimulation (DBS) of the pallidum is a promising symptomatic treatment targeting the core motor symptom: chorea. This article gives an overview of preliminary evidence on pathophysiology, safety and efficacy of DBS in HD. PMID:27589813

  19. GABAA receptor complex function in frontal cortex membranes from control and neurological patients.

    Science.gov (United States)

    Lloyd, G K; Lowenthal, A; Javoy-Agid, F; Constantidinis, J

    1991-05-01

    The functional integrity of the GABAA receptor-benzodiazepine (BZ) recognition site-Cl- ionophore complex was assessed by means of [35S]TBPS (t-butylbicyclophosphorothionate) binding to frontal cortex membranes prepared from frozen postmortem brain tissue taken from control (n = 4), Alzheimer (n = 7), Parkinson (n = 3) and Huntington's chorea (n = 2) patients. Specific [35S]TBPS binding was similar in control, Parkinson's disease and Huntington's chorea brains, but was significantly reduced (78% control, P less than 0.01) in frontal cortex membranes from Alzheimer's patients. The linkage between the BZ recognition sites and the GABAA receptor-linked Cl- ionophore was functionally intact in these membranes as BZ site agonists (zolpidem, alpidem, flunitrazepam and clonazepam) enhanced [35S]TBPS binding under the conditions used (well-washed membranes in the presence of 1.0 M NaCl). Zolpidem (BZ1 selective) exhibited a biphasic enhancement in control membranes whereas the other compounds induced a bell-shaped concentration-response curve. The enhancement of [35S]TBPS binding by alpidem, flunitrazepam and clonazepam was greater in frontal cortex membranes from Alzheimer's patients than in controls whereas it tended to be reduced in membranes from the brains of Huntington's chorea patients. These studies demonstrate the functional integrity of the GABAA receptor macromolecular complex and also the usefulness of [35S]TBPS binding in the study of human postmortem tissue. PMID:1654259

  20. Tetrabenazine: Spotlight on Drug Review

    Science.gov (United States)

    Kaur, Navneet; Kumar, Puneet; Jamwal, Sumit; Deshmukh, Rahul; Gauttam, Vinod

    2016-01-01

    Background Tetrabenazine (TBZ) is the only US Food and Drug Administration-approved drug for the treatment of chorea related to Huntington's disease and other hyperkinetic disorders. TBZ was first synthesized in 1950, and was then used for the treatment of psychosis. But later its potential in treating hyperkinetic disorders was proved by its ability to block vesicular monoamine transporters 2 and deplete monoamine stores. There is still lack of awareness about the therapeutic potential of this drug. Summary TBZ had been approved only for the treatment of chorea, but several clinical studies have been conducted by different research groups and it was concluded that TBZ is effective in various other conditions such as tardive dyskinesia, dystonia, tics, and Tourette's syndrome, thus, highlighting the need for further clinical trials in these conditions. Key Message The intention of this review is to sum up the information regarding chemistry, mechanism of action, pharmacokinetics, interactions, contraindications, adverse effects, and clinical efficacy of TBZ in diseases other than Huntington's chorea.

  1. Huntington's disease: a clinical review

    Directory of Open Access Journals (Sweden)

    Roos Raymund AC

    2010-12-01

    Full Text Available Abstract Huntington disease (HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD. The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which

  2. Huntington's disease presenting as amyotrophic lateral sclerosis.

    LENUS (Irish Health Repository)

    Phukan, Julie

    2010-08-01

    We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington\\'s disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington\\'s disease. This case confirms the rare coexistence of Huntington\\'s disease and motor neuron degeneration.

  3. Hemichorea as a presentation of acute rheumatic fever: a case report

    Directory of Open Access Journals (Sweden)

    Khwaja Saifullah Zafar

    2014-08-01

    Full Text Available Chorea is a major manifestation of acute RF and is the only evidence of RF in approximately 20% of cases. We report on a 15-year-old boy who presented with transient right side involuntary jerky movements, apical systolic murmur, sinus bradycardia, arthralgia, elevated antistreptolysin O titer and ESR, who was diagnosed with acute rheumatic fever and improved with haloperidol, prednisolone, digoxin, aspirin and furosemide and was given benzathine penicillin prophylaxis for future RF. Patient is faring well in follow up visits. We present our case because of its rarity. [Int J Res Med Sci 2014; 2(4.000: 1788-1790

  4. 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.

  5. 18F-fluorodeoxyglucose positron emission tomography/computed tomography in a case of non-ketotic hyperglycemia

    International Nuclear Information System (INIS)

    Hemichorea and generalized chorea are rare syndromes associated with nonketotic hyperglycemia. This disorder usually afflicts elderly females, and may herald the onset of new onset diabetes, usually type 2. There are conflicting reports of the underlying pathophysiology of this rare entity. Magnetic resonance imaging findings have been described in the past, and are characteristic. There are very few reports of 18F-fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT) findings of this unusual dyskinetic syndrome. This report describes the PET/CT features of this rare disease. Early detection and prompt correction of hyperglycemia may lead to complete or significant amelioration of symptoms

  6. Neurologic disease described in the Journal of Empirical Psychology (Gnothi Sauton oder Magazin zur Erfahrungsseelenkunde), 1783-1793.

    Science.gov (United States)

    Förstl, H

    1992-02-01

    Know Thyself or Journal of Empirical Psychology (Gnothi Sauton oder Magazin zur Erfahrungsseelenkunde), 1783-1793, was the first of its kind--concentrating on nervous and mental disturbances and marking the beginning of periodical neuropsychiatric publications. The editor, Karl Philipp Moritz, and the contributors, many of them lay people, were particularly interested in disturbances of language and consciousness. Descriptions of epilepsy, Sydenham's chorea, jargon aphasia, and dementia are briefly summarized. The case material from the Journal was soon translated and integrated in later work. The Journal itself and its "empirical" approach became a model for publications that followed. PMID:1736853

  7. Relationship between obsessive-compulsive disorders and diseases affecting primarily the basal ganglia

    Directory of Open Access Journals (Sweden)

    Maia Alex S. S. Freire

    1999-01-01

    Full Text Available Obsessive-compulsive disorder (OCD has been reported in association with some neurological diseases that affect the basal ganglia such as Tourette's syndrome, Sydenham's chorea, Parkinson's disease, and Huntington's disease. Furthermore, studies such as neuroimaging, suggest a role of the basal ganglia in the pathophysiology of OCD. The aim of this paper is to describe the association of OCD and several neurologic disorders affecting the basal ganglia, report the existing evidences of the role of the basal ganglia in the pathophysiology of OCD, and analyze the mechanisms probably involved in this pathophysiology.

  8. Post-mortem Findings in Huntington’s Deep Brain Stimulation: A Moving Target Due to Atrophy

    Science.gov (United States)

    Vedam-Mai, Vinata; Martinez-Ramirez, Daniel; Hilliard, Justin D.; Carbunaru, Samuel; Yachnis, Anthony T.; Bloom, Joshua; Keeling, Peyton; Awe, Lisa; Foote, Kelly D.; Okun, Michael S.

    2016-01-01

    Background Deep brain stimulation (DBS) has been shown to be effective for Parkinson’s disease, essential tremor, and primary dystonia. However, mixed results have been reported in Huntington’s disease (HD). Case Report A single case of HD DBS was identified from the University of Florida DBS Brain Tissue Network. The clinical presentation, evolution, surgical planning, DBS parameters, clinical outcomes, and brain pathological changes are summarized. Discussion This case of HD DBS revealed that chorea may improve and be sustained. Minimal histopathological changes were noted around the DBS leads. Severe atrophy due to HD likely changed the DBS lead position relative to the internal capsule. PMID:27127722

  9. Late onset of Huntington's disease.

    OpenAIRE

    Myers, R. H.; Sax, D S; Schoenfeld, M; Bird, E D; Wolf, P. A.; Vonsattel, J P; White, R. F.; Martin, J B

    1985-01-01

    Twenty-five patients with late-onset Huntington's disease were studied; motor impairment appeared at age 50 years or later. The average age at onset of chorea was 57.5 years, with an average age at diagnosis of 63.1 years. Approximately 25% of persons affected by Huntington's disease exhibit late onset. A preponderance of maternal transmission was noted in late-onset Huntington's disease. The clinical features resembled those of mid-life onset Huntington's disease but progressed more slowly. ...

  10. Synthesis of radiotracers for studying muscarinic cholinergic receptors in the living human brain using positron emission tomography: [11C]dexetimide and [11C]levetimide

    International Nuclear Information System (INIS)

    The localization and quantitation of muscarinic cholinergic receptors (m-AChR) in the living human brain using a non-invasive method such as positron emission tomography (PET) may provide valuable information about receptor changes which have been observed post mortem in patients with Huntington's chorea and Alzheimer's dementia, as well as normal brain mechanisms mediated by the m-AChR. We chose to label dexetimide as a radiotracer for studying the m-AChR and levetimide as a radiotracer for assessing non-specific binding associated with the in vivo receptor binding studies. (author)

  11. Non-choreic movement disorders as initial manifestations of Huntington's disease Distúrbios do movimento não-coreicos como manifestação inicial da doença de Huntington

    OpenAIRE

    Nilson Becker; Renato P. Munhoz; Salmo Raskin; Lineu César Werneck; Teive, Hélio A.G.

    2007-01-01

    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 mot...

  12. Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease

    Directory of Open Access Journals (Sweden)

    A. Ciammola

    2011-01-01

    Full Text Available Huntington's disease (HD is a rare hereditary neurodegenerative disorder characterized in over 90 percent of cases by chorea as the presenting motor symptom. We report a 54-year-old male who presented with Parkinsonism as the initial symptom of the disease. Genetic analysis revealed expansion of 40 CAG repeats, and brain MRI showed both severe caudate nuclei and cortical atrophy. Single-photon emission computed tomography (SPECT imaging of the dopamine transporter showed nigrostriatal pathway degeneration. Here, we also describe his 2 years of clinical followup after ensuing dopaminergic stimulation.

  13. Receptor-specific positron emission tomography radiopharmaceuticals: 75Br-labeled butyrophenone neuroleptics

    International Nuclear Information System (INIS)

    Cerebral dopaminergic D2 receptors are involved in several common disease states, such as schizophrenia, Parkinson's disease, and Huntington's chorea. The use of radiolabeled D2 receptor-binding ligands with positron emission tomography (PET) to noninvasively quantitate D2 receptor densities thus has potential application in medicine. Butyrophenone neuroleptics have a high in vitro and in vivo binding affinity for cerebral D2 receptors, and due to the useful chemical and nuclear decay properties of 74Br (76% β+, half-life = 1.6 h), the authors have evaluated radiobrominated bromospiperone (BSP), brombenperidol (BBP), and bromperidol (BP) as radiopharmaceuticals for use with PET

  14. Neuropsychological and neuroradiological correlates in Huntington's disease.

    OpenAIRE

    Starkstein, S E; Brandt, J.; Folstein, S; Strauss, M.; Berthier, M L; Pearlson, G.D.; Wong, D.; McDonnell, A.; Folstein, M

    1988-01-01

    Measurements of cortical and subcortical atrophy were made on CT scans of 34 patients with Huntington's disease. Significant correlations were found between the bicaudate ratio (BCR) and an eye movement scale (r = 0.44, p less than 0.01), and activities of daily living scale (r = 0.57, p less than 0.001) and the Mini-Mental State Exam (r = 0.49, p less than 0.01). No correlations were found between BCR values and severity of chorea or voluntary motor impairment. A detailed neuropsychological ...

  15. Positron-emissionstomografisk kortlaegning af den levende menneskehjernes receptorer

    DEFF Research Database (Denmark)

    Gjedde, A

    2001-01-01

    receptors in Alzheimer's disease, and benzodiazepine and opiate receptors in stroke, epilepsy, and Huntington's chorea; altered opiate receptors in chronic pain and drug abuse; and release of opiates in analgesia; but changes in serotonin synthesis, transport, and binding in affective or psychotic disorders...... tracers are used in diseases of the basal ganglia, whereas serotonin, benzodiazepine, and opiate tracers are used in lesions of the cerebral cortex. PET has revealed loss of dopaminergic terminals and dopamine synthetic capacity in Parkinson's disease, MPTP intoxication, and Lesch-Nyhan's syndrome...

  16. Fahr disease with atypical presentation: A report of two cases

    Directory of Open Access Journals (Sweden)

    Suzan Tunç

    2010-05-01

    Full Text Available Fahr’s disease is a rare disorder where bilateral, almost symmetric, calcium and other mineral deposits occur in basal ganglia, cerebellar dentate nucleus and white matter. Common clinical findings of the disease are characterizing parkinsonism, dystonia, chorea, ataxia and psychiatric symptoms. Fahr’s disease is associated with various metabolic disorders especially with parathyroid disorders. In this article a 65 year old female patient with vision loss and headache, bilateral basal ganglia and cerebellar calsification on Computerized Tomography examination and a 45 year old female patient with convulsive state and bilateral caudat nucleus calcification on Computerized Tomography examination were reported.

  17. Accidental haloperidol poisoning in children

    Directory of Open Access Journals (Sweden)

    Mona P Gajre

    2012-01-01

    Full Text Available Haloperidol, a butyrophenone neuroleptic drug, is an antipsychotic used in the treatment of adult schizophrenia and mania. It is used in children with neurological disorders like chorea and developmental disorders such as hyperactivity. With the advent of newer selective neuroleptics use of haloperidol is now on decline. However, in adults it is still the preferred drug especially in resource challenged settings. Extrapyramidal reactions occur frequently with haloperidol predominantly as parkinsonian symptoms. There are few case reports of accidental haloperidol poisoning in children and this one of them.

  18. Comparison of D2 receptor binding (123I-IBZM) and rCBF (99mTc-HMPAO) in extrapyramidal disorders

    International Nuclear Information System (INIS)

    The aim of this SPECT study was to determine whether there is a correlation between rCBF (99mTc-HMPAO) and D2 receptor binding (123I-IBZM) in disorders of the extrapyramidal system and in which situation the 99MTc-HMPAO scan could predict the outcome of the 123I-IBZM study. 13 patients with Parkinson's syndrome and 13 patients with hyperkinetic extrapyramidal disorders were studied. In all patients the two SPECT studies were performed within 2-7 days. ROIs were placed over the basal ganglia (BG), the frontal cortex (FC) and the cerebellum (CE). The ratios BG/FC and BG/CE were calculated. In both groups the scatter was lower when the frontal cortex was used as reference region. Among the patients with hyperkinetic extrapyramidal hyperkinetic extrapyramidal disorders the two patients with Huntington's chorea had lower rCBF and D2 receptor binding compared to other hyperkinetic extrapyramidal disorders. There was no correlation between D2 receptor binding and rCBF in the basal ganglia. The 99MTc-HMPAO studies did not provide clinically useful information, except in Huntington's chorea. (orig.)

  19. Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

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    Guilherme Riccioppo Rodrigues

    2011-06-01

    Full Text Available Huntington's disease (HD is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2, spinocerebellar ataxia (SCA 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA and chorea-acanthocytosis (ChAc among 29 Brazilian patients with a HD-like phenotype. In the group analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not reached in 79.3% of the patients. HDL2 was the main cause of the HD-like phenotype in the group analyzed, and is attributable to the African ancestry of this population. However, the etiology of the disease remains undetermined in the majority of the HD negative patients with HD-like phenotype.

  20. Quantitative analysis of CT scan in degenerative diseases of the nervous system

    International Nuclear Information System (INIS)

    Quantitative analysis was made on cranial CT scans of 142 patients with spinocerebellar degeneration (SCD), 16 with dentato-rubro-pallido-luysian atrophy (DRPLA), 12 with Huntington's chorea (HC), and four with chorea-acanthocytosis (CA). One hundred sex- and age-matched persons without any neurologic signs served as controls. Regarding parameters for atrophy in the infratentorial brain tissue, there was statistically significant difference between the SCD group and the control group. This indicated remarkable atrophy in the cerebellum and brain stem in SCD. According to subgroups of SCD, both bilateral atrophy of the pons and dilation of the prepontine cistern were significantly greater in the group of sporadic olivo-ponto-cerebellar atrophy than the group of Menzel type of olivo-ponto-cerebellar atrophy. The subgroup of hereditary spastic paraplegia had the mildest atrophy of the brain on CT, although there was still a significant atrophy compared with controls. In the DRPLA group, finding in the infratentorial brain tissue were similar to those in the SCD group. The HC group was characterized by having the greatest atrophy in the lateral ventricle, especially the caudate nuclei. Similar findings were seen in the CA group, although atrophy was generally mild. The results indicate the usefulness of quantitative analysis on CT in the diagnosis of degenerative diseases of the nervous system. (Namekawa, K.)

  1. ETHICAL AND GENETIC ASPECTS REGARDING PRESYMPTOMATIC TESTING FOR NEURODEGENERATIVE DISEASES.

    Science.gov (United States)

    Cozaru, Georgeta Camelial; Aşchie, Mariana; Mitroi, Anca Florentina; Poinăreanu, I; Gorduza, E V

    2016-01-01

    Neurodegenerative diseases, such as Alzheimer's dementia, Huntington's chorea, Parkinson's disease or spinocerebellar ataxia, manifests into adulthood with an insidious onset, slowly of progressive symptoms. All of these diseases are characterized by presimptomatic stages that preceded with many years of clinical debut. In Parkinson's disease, more than half of the dopaminergic neurons of the black substance are lost before the advent of motor characteristic manifestations. In Huntington's chorea, the progressive neurodegenerative disease could be diagnose prenatal and presymptomatic by analyse of the number of CAG repeats in exon 1 of the huntingtin gene. A similar mechanism represented by expansion of trinucleotide repeats during hereditary transmission from parents to children was identified in fragile X syndrome, spinocerebellar ataxia, spinal muscular and bulbar atrophy, or myotonic dystrophy. Presymptomatic diagnosis in all these progressive diseases raise many ethical issues, due to the psychological impact that can cause the prediction of a disease for which there is currently no curative treatment. Therefore, a positive result can produce serious psychological trauma and major changes in the lifestyle of the individual, instead, a negative result can bring joy and tranquillity. But the problem arises if presymptomatic testing in these neurodegenerative diseases brings greater benefits compared to the possible psychological damage, which can add the risk of stigmatization or discrimination. PMID:27125067

  2. Genetic features of Huntington disease in Cuban population: implications for phenotype, epidemiology and predictive testing.

    Science.gov (United States)

    Vázquez-Mojena, Yaimeé; Laguna-Salvia, Leonides; Laffita-Mesa, José M; González-Zaldívar, Yanetza; Almaguer-Mederos, Luis E; Rodríguez-Labrada, Roberto; Almaguer-Gotay, Dennis; Zayas-Feria, Pedro; Velázquez-Pérez, Luis

    2013-12-15

    Huntington disease is the most frequent polyglutamine disorder with variable worldwide prevalence. Although some Latin American populations have been studied, HD prevalence in Cuban population remains unknown. In order to characterize the disease in Cuba, the relative frequency of HD was determined by studying 130 patients with chorea and 63 unrelated healthy controls, emphasizing in the molecular epidemiology of the disease. Sixty-two patients with chorea belonging to 16 unrelated families carried a pathological CAG expansion in the HTT gene, ranging from 39 to 67 repeats. Eighty-three percent of them come from the eastern region of the country. A significant inverse correlation between age at onset and expanded CAG repeats was seen. Intermediate alleles in affected individuals and controls represented 4.8% and 3.97% respectively, which have been a putative source of de novo mutation. This study represents the largest molecular characterization of Huntington disease in the Cuban population. These results may have significant implications for an understanding of the disease, its diagnosis and prognosis in Cuban patients, giving health professionals the tools to implement confirmatory genetic testing, pre-symptomatic testing and clinical trials in this population.

  3. Hypernasality associated with basal ganglia dysfunction: evidence from Parkinson’s disease and Huntington’s disease

    Science.gov (United States)

    Novotný, Michal; Čmejla, Roman; Růžičková, Hana; Klempíř, Jiří; Růžička, Evžen

    2016-01-01

    Background Although increased nasality can originate from basal ganglia dysfunction, data regarding hypernasality in Parkinson’s disease (PD) and Huntington’s disease (HD) are very sparse. The aim of the current study was to analyze acoustic and perceptual correlates of velopharyngeal seal closure in 37 PD and 37 HD participants in comparison to 37 healthy control speakers. Methods Acoustical analysis was based on sustained phonation of the vowel /i/ and perceptual analysis was based on monologue. Perceptual analysis was performed by 10 raters using The Great Ormond Street Speech Assessment ’98. Acoustic parameters related to changes in a 1/3-octave band centered on 1 kHz were proposed to reflect nasality level and behavior through utterance. Results Perceptual analysis showed the occurrence of mild to moderate hypernasality in 65% of PD, 89% of HD and 22% of control speakers. Based on acoustic analyses, 27% of PD, 54% of HD and 19% of control speakers showed an increased occurrence of hypernasality. In addition, 78% of HD patients demonstrated a high occurrence of intermittent hypernasality. Further results indicated relationships between the acoustic parameter representing fluctuation of nasality and perceptual assessment (r = 0.51, p Huntington Disease Rating Scale chorea composite subscore (r = 0.42, p = 0.01). Conclusions In conclusion the acoustic assessment showed that abnormal nasality was not a common feature of PD, whereas patients with HD manifested intermittent hypernasality associated with chorea. PMID:27703866

  4. Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.

    Science.gov (United States)

    Waters, Christopher W; Varuzhanyan, Grigor; Talmadge, Robert J; Voss, Andrew A

    2013-05-28

    Huntington disease is a progressive and fatal genetic disorder with debilitating motor and cognitive defects. Chorea, rigidity, dystonia, and muscle weakness are characteristic motor defects of the disease that are commonly attributed to central neurodegeneration. However, no previous study has examined the membrane properties that control contraction in Huntington disease muscle. We show primary defects in ex vivo adult skeletal muscle from the R6/2 transgenic mouse model of Huntington disease. Action potentials in diseased fibers are more easily triggered and prolonged than in fibers from WT littermates. Furthermore, some action potentials in the diseased fibers self-trigger. These defects occur because of decreases in the resting chloride and potassium conductances. Consistent with this, the expression of the muscle chloride channel, ClC-1, in Huntington disease muscle was compromised by improper splicing and a corresponding reduction in total Clcn1 (gene for ClC-1) mRNA. Additionally, the total Kcnj2 (gene for the Kir2.1 potassium channel) mRNA was reduced in disease muscle. The resulting muscle hyperexcitability causes involuntary and prolonged contractions that may contribute to the chorea, rigidity, and dystonia that characterize Huntington disease.

  5. Neurological mitochondrial cytopathies.

    Directory of Open Access Journals (Sweden)

    Mehndiratta M

    2002-04-01

    Full Text Available The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. To the best of our knowledge, there are very few studies published from India till date. Selected and confirmed fourteen cases of neurological mitochondrial cytopathies with different clinical syndromes admitted between 1997 and 2000 are being reported. There were 8 male and 6 female patients. The mean age was 24.42+/-11.18 years (range 4-40 years. Twelve patients could be categorized into well-defined syndromes, while two belonged to undefined group. In the defined syndrome categories, three patients had MELAS (mitochondrial encephalopathy, lactic acidosis and stroke like episodes, three had MERRF (myoclonic epilepsy and ragged red fibre myopathy, three cases had KSS (Kearns-Sayre Syndrome and three were diagnosed to be suffering from mitochondrial myopathy. In the uncategorized group, one case presented with paroxysmal kinesogenic dystonia and the other manifested with generalized chorea alone. Serum lactic acid level was significantly increased in all the patients (fasting 28.96+/-4.59 mg%, post exercise 41.02+/-4.93 mg%. Muscle biopsy was done in all cases. Succinic dehydrogenase staining of muscle tissue showed subsarcolemmal accumulation of mitochondria in 12 cases. Mitochondrial DNA study could be performed in one case only and it did not reveal any mutation at nucleotides 3243 and 8344. MRI brain showed multiple infarcts in MELAS, hyperintensities in putaminal areas in chorea and bilateral cerebellar atrophy in MERRF.

  6. Characteristics of handwriting of patients with Huntington's disease.

    Science.gov (United States)

    Phillips, J G; Bradshaw, J L; Chiu, E; Bradshaw, J A

    1994-09-01

    Patients with Huntington's disease exhibit poorer-quality handwriting, sometimes clinically exhibiting macrographia, an increase in the size of handwriting. To characterize deficits in handwriting of patients with Huntington's disease, we compared the writing of 12 young, 12 age-matched controls, and 12 patients with Huntington's disease. Subjects were asked to write the letter "l" four times, at a constant length, on a graphics tablet that sampled pen position at 200 Hz. Huntington's disease causes chorea (involuntary movement), akinesia (difficulty in initiating voluntary movement), and bradykinesia (slowness and difficulty in maintaining voluntary movement). To distinguish changes in handwriting quality due to involuntary movement from impairments of voluntary movement, handwriting samples with obvious choreic movements were analyzed separately from other handwriting samples. Several measures of quality of handwriting were considered, based on: the regularity and consistency of handwriting, the efficiency of movement trajectories, and the proportions of movement occurring at specific frequencies. Results suggested that Huntington's disease increases variability of movement parameters, and causes problems in producing smooth movements. Choreic movement was best characterized by the number of zero crossings in the velocity function relative to the prescribed number of writing strokes. We hypothesize that macrographia in Huntington's disease occurs when chorea predominates over bradykinesia. Comparisons were made between the handwriting of patients with Huntington's and Parkinson's diseases. PMID:7990847

  7. Rheumatic fever: a multicenter study in the State of São Paulo

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    Silva Carlos Henrique Martins da

    1999-01-01

    Full Text Available Rheumatic fever is still the most commonly seen rheumatic disease in Brazilian pediatric rheumatology clinics. It remains a significant health problem since subsequent cardiac sequelae represent one of the most important causes of chronic heart disease in children. We reviewed the clinical manifestations of rheumatic fever in 786 patients, followed at seven pediatric rheumatology clinics in the state of São Paulo, Brazil. All patients were diagnosed according to revised Jones' criteria. Regarding major criteria, 396 (50.4% children exhibited carditis, 453 (57.6% polyarthritis, 274 (34.8% chorea, 13 (1.6% erythema marginatum, and 12 (1.5% subcutaneous nodules. Valvular lesions documented by echocardiography in the absence of accompanying auscultatory findings were found in 144 (18.3% patients. Migratory polyarthritis was observed in 290 (64.0% patients with articular involvement. Documented previous streptococcal infection assessed by serum antistreptolysin (ASO titers occurred in 531 (67.5% patients. Even though prophylaxis with benzathine penicillin was recommended to all patients, recurrent attacks were observed in 147 (18.7%. We emphasize the high frequency of chorea, silent carditis and recurrences in our series as well as the variable clinical presentation of arthritis in rheumatic fever. Multicenter studies should be encouraged to improve our understanding of the clinical features of rheumatic diseases in children and adolescents.

  8. Antiphospholipid Antibody Syndrome Presenting with Hemichorea

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    Yezenash Ayalew

    2012-01-01

    Full Text Available A 25-year-old Bangladeshi lady presented to neurology with a three-month history of involuntary movements of her right arm, associated with loss of power. There was progression to the right leg, and she subsequently developed episodes of slurred speech and blurred vision. At the time of presentation, she was 12 weeks pregnant and the symptoms were reported to have started at conception. Past medical history was unremarkable apart from one first trimester miscarriage and there was no significant family history suggestive of a hereditary neurological condition. MRI of the head revealed no abnormalities but serology showed positive antinuclear antibodies (ANAs at a titre of 1/400. Further investigations revealed strongly positive anticardiolipin antibodies (>120 and positive lupus anticoagulant antibodies. The patient had a second miscarriage at 19 weeks gestation strengthening the possibility that the chorea was related to antiphospholipid antibody syndrome and she was started on a reducing dose of Prednisolone 40 mg daily and aspirin 300 mg daily. Six months later, she had complete resolution of neurological symptoms. There are several reports of chorea as a feature of antiphospholipid syndrome, but no clear consensus on underlying pathophysiology.

  9. In 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-treated primates, the selective 5-hydroxytryptamine 1a agonist (R)-(+)-8-OHDPAT inhibits levodopa-induced dyskinesia but only with\\ increased motor disability.

    Science.gov (United States)

    Iravani, Mahmoud M; Tayarani-Binazir, Kayhan; Chu, Wing B; Jackson, Michael J; Jenner, Peter

    2006-12-01

    5-Hydroxytryptamine 1a (5-HT(1a)) receptor agonists, such as sarizotan and tandospirone, are reported to reduce levodopa-induced dyskinesia in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated macaques and in Parkinson's disease without worsening motor disability. However, these compounds are not specific for 5-HT(1a) receptors and also possess dopamine antagonist actions. We now report on the effects of (2R)-(+)-8-hydroxy-2-(di-n-propylamino)tetralin [(R)-(+)-8-OHDPAT], a selective 5-HT(1a) agonist lacking dopaminergic activity, on motor disability and dyskinesia (chorea and dystonia) in levodopa-primed MPTP-treated common marmosets. Administration of (R)-(+)-8-OHDPAT (0.2, 0.6, and 2.0 mg/kg s.c), in conjunction with levodopa/carbidopa (12.5 mg/kg each p.o.) to levodopa-primed animals, dose-dependently reduced levodopa-induced chorea but did not affect dystonic movements. However, (R)-(+)-8-OHDPAT treatment also reduced locomotor activity and the reversal of motor disability. Administration of (R)-(+)-8-OHDPAT alone had no effects of motor behaviors. The effects of (R)-(+)-8-OHDPAT on levodopa-induced motor behaviors were antagonized by the 5-HT(1a) receptor antagonist N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-2-pyridinylcyclohexanecarboxamide maleate (WAY-100635) (1.0 mg/kg s.c.). Administration of (R)-(+)-8-OHDPAT (0.6 mg/kg s.c.) also reduced chorea produced by the administration of the D(2)/D(3) dopamine receptor agonist pramipexole (0.06 mg/kg p.o.) to levodopa-primed MPTP-treated animals. However, again the increase in locomotor activity and reversal of motor disability produced by pramipexole were also inhibited. These data suggest that selective 5-HT(1a) agonists do not provide an effective means of suppressing levodopa-induced dyskinesia, except with worsening of parkinsonism. PMID:16959959

  10. Clinical and genetic study of a juvenile-onset Huntington disease

    Directory of Open Access Journals (Sweden)

    HAO Ying

    2012-06-01

    Full Text Available Background Huntington's disease (HD is an autosomal dominant hereditary progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dementia, cognitive and affective impairment. There are selective neural cell loss and atrophy in the caudate and putamen. Dr. George Huntington firstly described the disease accurately and insightfully, which led to a widespread recognition of the inherited chorea that now bears his name. Huntington disease gene (IT15 locus on chromosome 4p16.3, and encompasses 67 exons with a trinucleotide repeat (CAG in the first exon. The CAG repeat length is highly polymorphic in the population and expanded on at least one chromosome of individuals with HD. Clinically, patient with HD are often onset in adulthood. Juvenile-onset HD is relatively rare. Adult-onset HD patients usually have a CAG expansion from 40 to 55 whereas those with juvenile-onset greater than 60 which are often inherited from the father. We investigated the clinical features of a juvenile-onset case with Huntington disease and dynamic mutation of his family. Methods The CAG repeats of IT15 gene were detected using polymerase chain reaction and capillary electrophoresis in 115 individuals with preliminary diagnosis as Huntington disease. The repeat numbers of some samples carried expanded or intermediate alleles were verified by the pMD18-T vector clone sequencing. Results Fragment analysis showed that one juvenile-onset case presenting with cognitive dysfunction and hypokinesis carried 15/68 CAG repeats of IT15. His father carried 17/37 and mother carried 15/17. Conclusion 1 The juvenile-onset case of HD presented with different clinical features compared with adult-onset cases. The typical signs of adult-onset cases include progressive chorea, rigidity and dementia. The most common sign of juvenile-onset Huntington disease is cognitive decline. 2 The dynamic mutation of IT15 gene expansion of the CAG repeats in the

  11. Undulating tongue in Wilson′s disease

    Directory of Open Access Journals (Sweden)

    M Nagappa

    2014-01-01

    Full Text Available We report an unusual occurrence of involuntary movement involving the tongue in a patient with confirmed Wilson′s disease (WD. She manifested with slow, hypophonic speech and dysphagia of 4 months duration, associated with pseudobulbar affect, apathy, drooling and dystonia of upper extremities of 1 month duration. Our patient had an uncommon tongue movement which was arrhythmic. There was no feature to suggest tremor, chorea or dystonia. It might be described as athetoid as there was a writhing quality, but of lesser amplitude. Thus, the phenomenology was uncommon in clinical practice and the surface of the tongue was seen to "ripple" like a liquid surface agitated by an object or breeze. Isolated lingual dyskinesias are rare in WD. It is important to evaluate them for WD, a potentially treatable disorder.

  12. Targeting Cannabinoid CB2 Receptors in the Central Nervous System. Medicinal Chemistry Approaches with Focus on Neurodegenerative Disorders

    Science.gov (United States)

    Navarro, Gemma; Morales, Paula; Rodríguez-Cueto, Carmen; Fernández-Ruiz, Javier; Jagerovic, Nadine; Franco, Rafael

    2016-01-01

    Endocannabinoids activate two types of specific G-protein-coupled receptors (GPCRs), namely cannabinoid CB1 and CB2. Contrary to the psychotropic actions of agonists of CB1 receptors, and serious side effects of the selective antagonists of this receptor, drugs acting on CB2 receptors appear as promising drugs to combat CNS diseases (Parkinson's disease, Huntington's chorea, cerebellar ataxia, amyotrohic lateral sclerosis). Differential localization of CB2 receptors in neural cell types and upregulation in neuroinflammation are keys to understand the therapeutic potential in inter alia diseases that imply progressive neurodegeneration. Medicinal chemistry approaches are now engaged to develop imaging tools to map receptors in the living human brain, to develop more efficacious agonists, and to investigate the possibility to develop allosteric modulators. PMID:27679556

  13. Brain FDG-PET Scan and Brain Perfusion SPECT in the Diagnosis of Neuroacanthocytosis Syndromes

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    Eylem Değirmenci

    2015-06-01

    Full Text Available Neuroacanthocytosis syndromes (NA include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. Fluor 18 -2-fluoro-2-deoxyglucose (18F-FDG-PET positron emission tomography (PET and technetium 99m -d, l-hexamethyl-propylene amine oxime (99mTc-HMPAO brain single photon emission computed tomography (SPECT have been increasingly used for the detection of neurologic disorders, such as dementia, epilepsy, and movement disorders. In this case report, we report two patients with neuroacanthocytosis syndromes with the imaging features of brain metabolism by PET and brain perfusion by SPECT. Brain PET and brain SPECT findings of patients with neuroacanthocytosis syndromes were also reviewed.

  14. Wilson′s disease presenting as isolated obsessive-compulsive disorder

    Directory of Open Access Journals (Sweden)

    Kumawat B

    2007-11-01

    Full Text Available Wilson′s disease (WD is a genetic neurodegenerative disorder; it exhibits wide heterogeneity in symptoms and usually presents with liver disease and/ or neuropsychiatric manifestations. The common neurological manifestations observed are dysarthria, gait disturbance, dystonia, rigidity, tremor, dysphagia and chorea. The frequent psychiatric manifestations reported are personality and mood changes, depression, phobias, cognitive impairment, psychosis, anxiety, compulsive and impulsive behavior. Isolated obsessive-compulsive disorder (OCD is a rare presentation of WD. Reported herein is a case of a 17-year-old boy with isolated OCD. He presented to the psychiatrist with symptoms of contamination obsessions and washing compulsions, along with compulsion of repeated feet tapping, and was treated with adequate doses of fluoxetine for 6 months but did not improve. Later on, he was diagnosed as a case of WD and showed improvement with chelating and behavior therapy. This implies the importance of the occurrence of isolated psychological symptoms in WD.

  15. Logainmneacha Chléire, Co. Chorcaí

    OpenAIRE

    Lankford, Eamonn

    1995-01-01

    Ar bhailiúcháin 14,000 mion-áitainmneacha i gCo. Chorcaí a chuir mé le chéile ó 1976 tá mion-áitainmneacha na n-oileán Inis Uí Drisceoil, Oileán Uí Chumaisc, Inis Fada, Inis Cáim, Inis Earcáin, An Bhá Thuaidh agus Oileán Chléire. Is é atá sa tráchtas seo ná bailiúchán Chléire agus An Bhá Thuaidh (Long Island Bay) ina bhfuil 2,105 ainm. Seachas a bhfuil curtha ar fáil i dTriocha Céad Chorea Dhuibhne (1938) agus Uí Ráthach (1954) leis An Seabhach ainmneacha bailte fearainn is ...

  16. PANDAS: an autoimmune model of mental disorder

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    Laura del Pilar Cadena Afanador

    2004-08-01

    Full Text Available In 1998, the National Institute of Mental Health defined the criteria of diagnosis for the pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS. Since then there has been investigating the genesis of the autoimmunity caused by this microorganism and its clinical implications, since it has been associated with the obsessive-compulsive disorder, Tourette’s disorder and Sydenham’s chorea and with minor evidence it has been related to of hyperactivity disorder with lack of attention, autistic disorder and anorexia nervosa. The present article is a review on the most important aspects that have been defined up to now in regards to the physiopatlogy, clinical presentation and management of the patients with PANDAS spectrum, since they are a group of diseases in which it will be possible to change the paradigm of treatment in Psychiatry, from being a symptomatic disease to an etiological one.

  17. Is Tourette's syndrome an autoimmune disease?

    Science.gov (United States)

    Hoekstra, P J; Kallenberg, C G M; Korf, J; Minderaa, R B

    2002-01-01

    We provide a review of recent research findings which support the involvement of autoimmunity in childhood-onset tic disorders, in particular the presence of antineuronal autoantibodies, D8/17 B lymphocyte overexpression, a marker of chorea associated with streptococcal infection, and possible beneficial effects of immunomodulatory intervention. One of the most controversial areas in this field is the validity of the proposed PANDAS concept. Some researchers have delineated a putatively unique subgroup of patients, from the spectrum of illness encompassing Tourette's syndrome and obsessive-compulsive disorder (OCD), whose tics and obsessive-compulsive symptoms are shown to arise in response to beta-hemolytic streptococcal infections. They designated it by the term pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Herein we additionally present pros and cons concerning the concept of PANDAS. Finally, recommendations for future research directions are given.

  18. Type-2 cannabinoid receptors in neurodegeneration.

    Science.gov (United States)

    Bisogno, Tiziana; Oddi, Sergio; Piccoli, Alessandra; Fazio, Domenico; Maccarrone, Mauro

    2016-09-01

    Based on its wide expression in immune cells, type-2 cannabinoid (CB2) receptors were traditionally thought to act as "peripheral receptors" with an almost exclusively immunomodulatory function. However, their recent identification in mammalian brain areas, as well as in distinct neuronal cells, has opened the way to a re-consideration of CB2 signaling in the context of brain pathophysiology, synaptic plasticity and neuroprotection. To date, accumulated evidence from several independent preclinical studies has offered new perspectives on the possible involvement of CB2 signaling in brain and spinal cord traumatic injury, as well as in the most relevant neurodegenerative disorders like Alzheimer's disease, Parkinson's disease and Huntington's chorea. Here, we will review available information on CB2 in these disease conditions, along with data that support also its therapeutic potential to treat them. PMID:27450295

  19. Central nervous system lupus erythematosus in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Yokota, Shumpei; Kimura, Kazue; Yoshida, Naotaka; Mitsuda, Toshihiro; Ibe, Masa-aki; Shimizu, Hiroko (Yokohama City Univ. (Japan). Faculty of Medicine)

    1989-12-01

    Clinical features of central nervous system (CNS) invlvement in childhood systemic lupus erythematosus (SLE) was investigated. Neuropsychiatric manifestations including seizures, chorea, headache, overt psychosis, tremor, increase of muscle spastisity, and disturbed memory were found in 47% of 15 patients with SLE. There was a well correlatin between CNS abnormalities and SLE disease activity judged by serum complement levels and anti-nuclear antibody and anti-DNA antibody titers. The administration of Prednisolon was effective for the treatment of these CNS abnormalities and steroid psychosis was rare in the present study. EEG abnormalities involving diffuse slowing and slowing bursts were found in 73% of the patients. Cranial CT scan revealed basel ganglia calcifications in 2 patients, and marked brain atrophy in 3 patients. This study indicated that in the long term following of SLE children CNS abnormalities need to be serially checked by EEG and cranial CT scans as well as serological investigations. (author).

  20. Acid-beta-glycerophosphatase reaction products in the central nervous system mitochondria following x-ray irradiation.

    Science.gov (United States)

    Roizin, L; Orlovskaja, D; Liu, J C; Carsten, A L

    1975-06-01

    A survey of the literature to date on the enzyme histochemistry of intracellular organelles has not yielded any reference to the presence of acid phosphatase reaction products in the mammalian mitochondria of the central nervous system. A combination of Gomori's acid phosphatase mehtod, however, with standard electron microscopy has disclosed the presence of enzyme reaction products in the mitochondria of the central nervous system of rats from 2 hr to 22 weeks after x-ray irradiation, as well as in a cerebral biopsy performed on a patient affected by Huntington's chorea. No enzyme reaction products, on the other hand, were observed in serial sections that had been incubated in substrates either containing sodium fluoride or lacking in beta-glycerophosphate. The abnormal mitochondrial enzyme reaction (chemical lesion) is considered to be the consequenco of the pathologic process affecting the ultrastructural-chemical organization of the organelle.

  1. Paraneoplastic Choreoathetosis in a Patient with Small Cell Lung Carcinoma and Anti-CRMP5/CV2: A Case Report

    DEFF Research Database (Denmark)

    Lassen, Lisbeth Landschoff; Somnier, Finn; Aydin, Dogu

    2016-01-01

    Introduction: The occurrence of more or less monosymptomatic paraneoplastic choreoathetosis associated with anti-CRMP5/CV2 antibodies is rare. Typically, such autoantibodies are associated with a more classical syndrome - paraneoplastic encephalomyelitis. Frequently, small cell lung carcinoma (SCLC......) is the related neoplastic finding. Case Report: We present a 71-year-old woman who developed visual symptoms with papilledema and chorea. Anti-CRMP5/CV2 antibodies were a feature of both the serum and cerebrospinal fluid. Although SCLC was suspected already at the time of the initial examinations, no signs...... 14 months after the onset of the symptoms. Conclusion: We report paraneoplastic choreoathetosis associated with anti-CRMP5/CV2 antibodies. Such published case histories are rare. Although expected, we did not find any reduced signal intensity at the basal ganglia on the T1-weighted or increased...

  2. Drug discovery and development for Huntington's disease - an orphan indication with high medical need.

    Science.gov (United States)

    Heitz, Freddy; La Rosa, Salvatore; Gonzalez-Couto, Eduardo; Gaviraghi, Giovanni; Terstappen, Georg C

    2008-09-01

    Huntington's disease (HD) is a rare neurodegenerative disorder that progressively destroys the mental capacity and motor control of patients. This loss of motor control results in abnormal body movements (chorea) - the hallmark of HD. Given that no disease-modifying therapy for HD exists and that available symptomatic treatments are not highly efficacious, the medical need for this 'orphan' disease remains high. The number of compounds that are undergoing discovery and development for the treatment of HD has increased significantly in recent years, spurred by legislative incentives for orphan drug development and by support from non-profit foundations. Thus, hope exists for patients with HD that efficacious medicines will become available. PMID:18763216

  3. Crack dancing in the United Kingdom: apropos a video case presentation.

    Science.gov (United States)

    Kamath, Shankar; Bajaj, Nin

    2007-06-15

    We report an adult patient presenting with choreiform movements 4 days after a large intravenous dose of cocaine. These movements were transitory and they normalized a week after admission. We believe this to be the first video case of acute chorea secondary to cocaine--a phenomenon popularly known as "crack dancing. " Cocaine abuse is associated with a wide range of movement disorders, including dystonia and exacerbation of Tourette's syndrome, multifocal tics, opsoclonus-myoclonus, choreiform movements, and stereotyped behavior known as "punding." Transient choreiform movements with a typical duration of 2 to 6 days are recognized by cocaine abusers themselves as crack dancing, but are infrequently reported. We present a video report of a patient with cocaine dependency and choreiform movements that normalized within a week of admission. PMID:17415801

  4. Childhood-onset (Juvenile Huntington′s disease: A rare case report

    Directory of Open Access Journals (Sweden)

    Kailash Chandra Patra

    2015-01-01

    Full Text Available Huntington′s disease (HD is a rare dominantly inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary (choreic movements, neuropsychiatric manifestations, and dementia. It is caused by an unstable CAG repeat expansion in the gene IT15 which encodes a Huntingtin protein. We present a case of a 9 year old boy who had developmental regression starting from the age of 8 years of age along with resistant seizures and signs of cerebellar involvement with absence of chorea and is on anticonvulsants, baclofen, and tetrabenzine. As is expected in a case of childhood-onset HD, our patient is rapidly deteriorating and is currently in the terminal phase of his illness along with resistant convulsions.

  5. CT and MRI findings in patients with hyperglycemic encephalopathy : three cases report

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Sun Hee; Choi, Hye Young [College of Medicine, Ewha Womans Unviersity, Seoul (Korea, Republic of)

    2000-03-01

    We describe the distinctive brain CT and MRI findings seen in the putamen of three patients with hyperglycemia. The chief complaint of these patients was either chorea (n=3D1) or mental change (n=3D2). They showed hyperglycemia, but physical examination and laboratory data revealed no other abnormalities. In all patients, non-enhanced CT scanning revealed high-attenuated lesions in the unilateral putamen. In two of the three patients, brain MRI performed two days after the onset of symptoms showed an abnormally high signal on T1-weighted images and a low signal on T2-weighted images. One patient had a history of diabetes mellitus, and another had acute myocardiac infarction. The third had no specific history. After the correction of hyperglycemia, the patient's symptoms subsided and diabetes mellitus was diagnosed. (author)

  6. Heat stroke-like episode in a child caused by zonisamide.

    Science.gov (United States)

    Shimizu, T; Yamashita, Y; Satoi, M; Togo, A; Wada, N; Matsuishi, T; Ohnishi, A; Kato, H

    1997-07-01

    A 2-year-old mentally retarded boy with frontal lobe epilepsy presented with an episode that resembled heat stroke during the administration of zonisamide. He developed hyperpyrexia with oligohidrosis and central neurological symptoms, including, chorea-like involuntary movements, resting tremor, and cogwheel rigidity. A sweat test using pilocarpine iontophoresis revealed a marked reduction in the sweat response, which suggested a postganglionic sweating dysfunction. A skin biopsy examined by light and electron microscopy showed no morphological abnormality in the sweat glands. The oligohidrosis caused by zonisamide was reversible in that the patient regained the ability to sweat within 2 weeks of the cessation of drug administration. Children receiving zonisamide should be monitored for oligohidrosis and the development of neurological symptoms associated with an elevation of body temperature. PMID:9253492

  7. Neurological manifestations of Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Mathew T

    2005-01-01

    Full Text Available Ehlers-Danlos Syndrome (EDS is more identified for its cutaneous features but its neurological manifestations have not received the focused attention. Four patients of Ehlers-Danlos Syndrome (EDS with neurological manifestations were evaluated for phenotypic data. These four men were from three families and two had consanguineous parentage. The mean age at onset and presentation of neurological symptoms were 10.5 years and 19 years respectively. Patient 1 presented with bilateral optic atrophy, sensorineural deafness, cerebellar ataxia and neuropathy. Patient 2 had marfanoid habitus, chorea and cerebellar ataxia. Patient 3 had action and percussion myotonia, wasting and weakness of sternocleidomastoid and distal limb muscles. Patient 4 had action myotonia, mirror movements of both hands and neuropathy. MRI of brain showed right parietal polymicrogyria. Neuroaxis involvement at multiple levels in EDS may have prognostic significance.

  8. Expanding the ataxia with oculomotor apraxia type 4 phenotype.

    Science.gov (United States)

    Paucar, Martin; Malmgren, Helena; Taylor, Malcolm; Reynolds, John J; Svenningsson, Per; Press, Rayomand; Nordgren, Ann

    2016-02-01

    Ataxia with oculomotor apraxia type 4 (AOA4) is an autosomal recessive (AR) disorder recently delineated in a Portuguese cohort and caused by mutations in the PNKP (polynucleotide kinase 3'-phosphatase) gene.(1) AOA4 is a progressive, complex movement disorder that includes hyperkinetic features, eye movement abnormalities, polyneuropathy, varying degrees of cognitive impairment, and obesity. PNKP mutations were initially discovered to be the cause of the severe nonprogressive syndrome microcephaly, early-onset intractable seizures, and developmental delay (MCSZ).(2) Here we describe a patient with compound heterozygous PNKP mutations presenting with an AOA4 phenotype. New features that we report include both mutations, presence of chorea, absence of oculomotor apraxia (OMA), and slow disease progression. PMID:27066586

  9. Is direct CT-caudatometry superior to indirect parameters in confirming Huntington's disease

    International Nuclear Information System (INIS)

    The largest diamter and area of the head of the caudate nucleus in the CT slice closest to the foramina of Monro were compared to other conventional parameters used in confirming Huntington's disease and contrasted with two groups of non-Huntington patients. A maximum diameter under 6.5 mm and an area under 92.5 mm2 were indicative of, but not specific for, Huntington's chorea. Without taking additional parameters into account, mainly occlusive hydrocephalus may be confused with genuine caudate atrophy. With advancing technology - especially Nuclear Magnetic Resonance imaging - it is to be hoped that direct measurement of the caudate uneleve may be easier and more reliable and emerge as a valuable adjunct to conventional measures. (orig.)

  10. Metabolic changes in the brain

    International Nuclear Information System (INIS)

    A positron emission tomograph (PET) is described for displaying the flow pattern of radioactive isotope-labelled substances injected into the human brain. This is claimed to assist in diagnosis of circulation disturbances and to show sugar and oxygen uptake. Emitted gamma rays are detected by rings of 96 detectors whose outputs are used to produce a computer-generated reproduction of the brain, with different colours or densities on a cathode ray tube representing concentration of the labelled substance. Epileptic spasms, Huntington's chorea and drug uptake, as well as albumen content variations due to tumours, are stated to be capable of display. Future uses of the ''PET'' tomograph are discussed. (G.M.E.)

  11. Acid-β-glycerophosphatase reaction products in the central nervous system mitochondria following x-ray irradiation

    International Nuclear Information System (INIS)

    A survey of the literature to date on the enzyme histochemistry of intracellular organelles has not yielded any reference to the presence of acid phosphatase reaction products in the mammalian mitochondria of the central nervous system. A combination of Gomori's acid phosphatase method, however, with standard electron microscopy has disclosed the presence of enzyme reaction products in the mitochondria of the central nervous system of rats from 2 hr to 22 weeks after x-ray irradiation, as well as in a cerebral biopsy performed on a patient affected by Huntington's chorea. No enzyme reaction products, on the other hand, were observed in serial sections that had been incubated in substrates either containing sodium fluoride or lacking in β-glycerophosphate. The abnormal mitochondrial enzyme reaction (chemical lesion) is considered to be the consequence of the pathologic process affecting the ultrastructural-chemical organization of the organelle

  12. An enzyme activity in normal and ataxia telangiectasia cell lines which is involved in the repair of γ-irradiation-induced DNA damage

    International Nuclear Information System (INIS)

    An enzyme that enhances the activity of DNA polymerase I (EC 2.7.7.7) for γ-irradiated calf thymus DNA was demonstrated in cellular extracts of normal human fibroblasts and lymphoid-cell lines. This enzyme was found to be deficient in all cellular extracts of fibroblasts and lymphoid-cell lines examined from patients with the autosomal recessive disease ataxia telangiectasia. The activity in cellular extracts from normal fibroblasts was removed when heated to 1000C for 2 min or when the assay was performed at 40C. No significant deficiency in primer activating enzyme activity was observed in cell-free extracts of lymphoid lines from patients with xeroderma pigmentosum, Huntington's chorea or neurofibromatosis, or from an ataxia telangiectasia heterozygote. (author)

  13. Application of iodine-123-labeled isopropylamphetamine imaging to the study of dementia

    International Nuclear Information System (INIS)

    Forty-seven patients diagnosed as clinically demented were imaged with 123I isopropylamphetamine (IMP). All of these patients also had a nuclear magnetic resonance (NMR) study. In those patients diagnosed as having senile dementia of the Alzheimer type a bilateral reduction in IMP uptake in the temporo-parieto-occipital region was always seen. The NMR appearances were normal in 64% of these sites. The IMP images of patients with multi-infarct dementia varied from normal to marked focal deficits. There was, however, a much closer agreement between the abnormalities seen on the IMP and NMR images. In alcoholic dementia no focal areas of reduced IMP uptake were seen, although the uptake was generally irregular. In both Korsakoff's psychosis and Huntington's chorea the IMP uptake pattern and the NMR study were normal

  14. 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".

  15. CT and MRI findings in patients with hyperglycemic encephalopathy : three cases report

    International Nuclear Information System (INIS)

    We describe the distinctive brain CT and MRI findings seen in the putamen of three patients with hyperglycemia. The chief complaint of these patients was either chorea (n=3D1) or mental change (n=3D2). They showed hyperglycemia, but physical examination and laboratory data revealed no other abnormalities. In all patients, non-enhanced CT scanning revealed high-attenuated lesions in the unilateral putamen. In two of the three patients, brain MRI performed two days after the onset of symptoms showed an abnormally high signal on T1-weighted images and a low signal on T2-weighted images. One patient had a history of diabetes mellitus, and another had acute myocardiac infarction. The third had no specific history. After the correction of hyperglycemia, the patient's symptoms subsided and diabetes mellitus was diagnosed. (author)

  16. ACUTE RHEUMATIC FEVER IN THE 21st CENTURY: THE PROBLEM THAT CANNOT BE FORGOTTEN

    Directory of Open Access Journals (Sweden)

    N. N. Kuzmina

    2016-01-01

    Full Text Available Despite considerable advances in the control of acute rheumatic fever (ARF, the problem of this disease remains relevant and contains a number of unsolved issues as before. The paper displays an epidemiological update on ARF and analyzes a number of provisions of the recent (2015 American Heart Association guidelines on the revision of the Jones diagnostic criteria. The wide discussion in the academic circles concerns the clinical aspects of ARF (carditis, chorea, an understanding of which makes it possible to correctly predict the course of the disease, but also to form a rational therapy policy that affects its outcome. Current approaches to primary and secondary prevention of ARF are given; emphasis is placed on the necessity of designing a novel vaccine against Streptococcus.

  17. Psychosis, Treatment Emergent Extrapyramidal Events, and Subsequent Onset of Huntington’s Disease: A Case Report and Review of the Literature

    Science.gov (United States)

    Xu, Changqing; Yogaratnam, Jegan; Tan, Nigel; Sim, Kang

    2016-01-01

    Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by a triad of progressive motor dysfunction, cognitive decline and psychiatric disturbances. The hallmark of HD is the distinctive choreiform movement disorder that typically has a subtle, insidious onset in the fourth to fifth decade of life and gradually worsens over 10 to 20 years until death. Notably, two-thirds of HD patients present with chorea and one third with mental changes. The prevalence of psychiatric symptoms is significantly higher than in the general population, and is estimated to be around 66–73%. Here, we report a unique case of subsequent onset of HD in a patient previously treated for schizophrenia and complicated by the extrapyramidal side effects to antipsychotics. PMID:27489386

  18. Fahr’s Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    İlhan Kılınç

    2007-01-01

    Full Text Available Fahr’s disease is characterized with presence of calcifications in basal ganglions, dentate nucleus, and centrum semiovale. Common clinical findings of the disease are Parkinsonism, dystonia, chorea, ataxia, dementia, and mood disorders. We present a patient, in whom a diagnosis of Fahr disease established, with clinical and radiological findings. Neurological and physical exam of the 56 year-old female with complaints of memory loss and speech disorder for one year. Brain CT showed Fahr type calcification in the basal ganglion, thalamus, periventricular white matter, centrum semiovale, and cerebellum. Fahr’s disease must be present in differential diagnosis of patients with calcification in basal ganglion, thalamus, periventricular white matter, centrum semiovale, and cerebellum on CT or MRI that could not be explained otherwise.

  19. A Case of Fahr Syndrome Presenting with Seizures

    Directory of Open Access Journals (Sweden)

    Mustafa Calik

    2013-06-01

    Full Text Available Fahr syndrome is characterized with calcification in basal ganglia, dentate nucleus of cerebellum and centrum semiovale. Frequent clinical findings include Parkinsonism, dystonia, tremor, chorea, ataxia, dementia, and mood disorders. 13 years old male was admitted with generalized tonic-clonic seizures in our clinic. His neurological examination was normal. No abnormalities were determined in biochemical and hormonal examinations. Cranial computed tomography and magnetic resonance imaging demonstrated alterations in signal intensity suggestive of extensive calcifications in basal ganglia, thalami, periventricular white matter and centrum semiovale. Although, extra pyramidal system findings are the most common signs in Fahr syndrome, we aimed to point out that some of the patients might also present with epileptic seizures.

  20. Rapid eye movement sleep disturbances in Huntington disease

    DEFF Research Database (Denmark)

    Arnulf, I.; Nielsen, J.; Lohmann, E.;

    2008-01-01

    and shortened rapid eye movement (REM) sleep, and increased periodic leg movements. Three HD patients (12%) had REM sleep behavior disorders. No sleep abnormality correlated with CAG repeat length. Reduced REM sleep duration (but not REM sleep behavior disorders) was present in premanifest carriers and patients...... with very mild HD and worsened with disease severity. In contrast to narcoleptic patients, HD patients had no cataplexy, hypnagogic hallucinations, or sleep paralysis. Four HD patients had abnormally low (sleep latencies, but none had multiple sleep-onset REM periods. Conclusions......: The sleep phenotype of HD includes insomnia, advanced sleep phase, periodic leg movements, REM sleep behavior disorders, and reduced REM sleep but not narcolepsy. Reduced REM sleep may precede chorea. Mutant huntingtin may exert an effect on REM sleep and motor control during sleep Udgivelsesdato: 2008/4...

  1. Therapeutics in Huntington's Disease.

    Science.gov (United States)

    Killoran, Annie; Biglan, Kevin M

    2012-02-01

    OPINION STATEMENT: There is no specific treatment for Huntington's disease (HD). Its many symptoms of motor, psychiatric, and cognitive deterioration are managed with symptomatic relief, rehabilitation, and support. The only drug approved by the US Food and Drug Administration (FDA) for the treatment of HD is an antichoreic agent, tetrabenazine, but this drug is used sparingly because of uneasiness regarding its propensity to cause depression and suicidality in this population, which is already at risk for these complications. Neuroleptics are still first-line treatments for chorea accompanied by comorbid depression and/or behavioral or psychotic symptoms, as is often the case. Psychiatric features, which have a significant impact on a patient's professional and personal life, often become the major focus of management. In addition to neuroleptics, commonly used medications include antidepressants, mood stabilizers, anxiolytics, and psychostimulants. In contrast, few treatment options are available for cognitive impairment in HD; this remains an important and largely unmet therapeutic need. HD patients typically lack insight into their disease manifestations, failing to recognize their need for treatment, and possibly even arguing against it. Multipurpose medications are employed advantageously to simplify the medication regimen, so as to facilitate compliance and not overwhelm the patient. For example, haloperidol can be prescribed for a patient with chorea, agitation, and anorexia, rather than targeting each symptom with a different drug. This approach also limits the potential for adverse effects, which can be difficult to distinguish from the features of the disease itself. With HD's complexity, it is best managed with a multidisciplinary approach that includes a movement disorders specialist, a genetic counselor, a mental health professional, a physical therapist, and a social worker for support and coordination of services. As the disease progresses, there

  2. Positron research in neuropsychiatric disorders

    International Nuclear Information System (INIS)

    The principal findings revealed by our 18F-fluoro-2-deoxyglucose (18FDG) and 15O-oxygen study were reviewed in the former part of this paper. (1) The effect of surgical severing of fiber connections on the terminal gray matter was clearly demonstrated in the following examples. A patient with the injured left optic radiation showed a markedly decreased 18FDG uptake in the ipsilateral primary visual cortex. The extent of the decrease was larger in the secondary visual cortex (--60%). The patient with bilateral frontal leukotomy (lobotomy) showed about 30% decrease of oxygen accumulation not only in the frontal cortex but in the anterior half of the temporal cortex. (2) The effect of electrical stimulation of the left median nerve can be detected as an increased 18FDG accumulation in the corresponding sensory and motor areas in the right precentral and postcentral cortices. The slight to moderate increase in the right striatal region was though to be related to the muscle movement caused by the stimulation. (3) The neuro-degenerative disorders such as Huntington's chorea and Parkinsonism could be diagnosed by demonstrating the decrease of 18FDG in the degenerating focus or the increase in the secondarily affected area. An example was provided by a case of Huntington's chorea patient who showed a markedly decreased 18FDG uptake in the striatal region in spite that 13N-ammonia visualized this area. (4) Dementia gives another field where the 18FDG and 15O2 studies are demonstrated to be quite useful. (5) The 18FDG studies on the intrinsic psychoses are also reviewed. But consistent results seemed to be very difficult in this area by using labeled sugars and oxygens which are nonspecific gray matter imagers. Therefore, new tracers and new techniques in positron emission tomography are briefly described in the latter part of this paper. (author)

  3. Manifestações neuropsiquiátricas em crianças e adolescentes com lúpus eritematoso sistêmico juvenil: associação com anticorpos antifosfolípide? Neuropsychiatric manifestations of children and adolescents with juvenile systemic lupus erythematosus: is there an association with antiphospholipid antibodies?

    Directory of Open Access Journals (Sweden)

    Cássia Maria Passarelli Lupoli Barbosa

    2006-10-01

    Full Text Available OBJETIVO: estudar a freqüência de anticorpos antifosfolípide (aFL em pacientes com lúpus eritematoso sistêmico juvenil (LESJ e sua possível associação com manifestações neuropsiquiátricas. MÉTODOS: análise retrospectiva de prontuários de 64 pacientes com LESJ, de acordo com os critérios do American College of Rheumatology (ACR, acompanhados por um período mínimo de seis meses. Foram consideradas manifestações neuropsiquiátricas: cefaléia, convulsão, acidente vascular cerebral (AVC, coréia, neuropatia medular e periférica, além de alterações do comportamento, com ou sem psicose. Duas dosagens de anticorpos anticardiolipina foram realizadas com intervalo de dois meses e foram considerados positivos os títulos de IgG maiores que 20 e de IgM maiores que 12. O anticoagulante lúpico foi dosado em 32 pacientes. A análise estatística foi realizada através do teste de Fisher com nível de significância OBJECTIVE: to study the frequency of antiphospholipid antibodies (aPL in patients with juvenile systemic lupus erythematosus (JSLE and the possible association to neuropsychiatric manifestations. METHODS: retrospective analysis of charts of 64 JSLE patients according to the American College of Rheumatology (ACR classification criteria, followed for at least six months. The neuropsychiatric manifestations were defined by the presence of: headache, seizure, cerebrovascular accident (CVA, chorea, medular or peripheral neuropathy and behavior disturbances with psichosis or not. The aPL were tested in two occasions with an interval of two months. Values greater than 20 for IgG or 12 for IgM were considered as positive. The lupus anticoagulant was tested in 32 patients. The statistical analysis was performed using the Fisher’s exact test with a significance level of 0,05. RESULTS: 38 (59.4% out of 64 JSLE patients had neuropsychiatric manifestations. APL antibodies were presented in 29 patients (45.3%. We did not observe a

  4. Los trastornos del movimiento en urgencias Movement disorders in the emergency department

    Directory of Open Access Journals (Sweden)

    M.E. Erro

    2008-01-01

    Full Text Available Los pacientes que acuden a urgencias con un cuadro clínico en el que predomina un trastorno del movimiento de instauración aguda o subaguda suponen un porcentaje pequeño de las urgencias neurológicas. Sin embargo, su conocimiento es importante ya que en muchos de estos casos un error en el diagnóstico o tratamiento puede conllevar una importante morbilidad e incluso mortalidad. La forma clínica de presentación de estos trastornos es variada y en algunos predomina la acinesia o la rigidez mientras que en otros casos son los movimientos anormales en forma de discinesias o balismos lo que caracterizan al cuadro clínico. El tipo de trastorno del movimiento orienta hacia una determinada etiología. El consumo de determinados fármacos o tóxicos supone una de las principales causas de trastorno agudo del movimiento dentro de las que se incluyen el síndrome neuroléptico maligno y el síndrome serotoninérgico. En esta revisión se ha dedicado un apartado a las urgencias que plantea la enfermedad de Parkinson y que incluyen el síndrome parkinsonismo-hiperpirexia, la psicosis aguda y las urgencias de los pacientes con neuroestimuladores. Las distonías y corea-balismo agudas son también abordadas, y por último se dedica un apartado a las trastornos del movimiento como forma de presentación de un ictus.Acute or sub-acute movement disorders represent a small percentage of neurological emergencies but it is necessary to be aware of their existence because a failure in their diagnosis or treatment can result in significant morbidity and mortality. Clinical presentation of acute movement disorders can be diverse. In some cases acinesia or rigidity predominates, while others are characterized by dystonia, chorea o balism. The type of movement disorder suggest a specific aetiology. Drugs represent the most frequent etiologic factor and are the cause of neuroleptic malignant syndrome and serotoninergic syndrome. Emergencies secondary to Parkinson

  5. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  6. [Adult-onset rare diseases].

    Science.gov (United States)

    Pfliegler, György; Kovács, Erzsébet; Kovács, György; Urbán, Krisztián; Nagy, Valéria; Brúgós, Boglárka

    2014-03-01

    The present paper is focusing on rare diseases manifesting in late childhood or adulthood. A part of these syndromes are not of genetic origin, such as relatively or absolutely rare infections, autoimmune diseases, tumours, or diseases due to rare environmental toxic agents. In addition, even a large proportion of genetic disorders may develop in adulthood or may have adult forms as well, affecting are almost each medical specialization. Examples are storage disorders (e.g. adult form of Tay-Sachs disease, Gaucher-disease), enzyme deficiencies (e.g. ornithin-transcarbamylase deficiency of the urea cycle disorders), rare thrombophilias (e.g. homozygous factor V. Leiden mutation, antithrombin deficiency), or some rare monogenic disorders such as Huntington-chorea and many others. It is now generally accepted that at least half of the 6-8000 "rare diseases" belong either to the scope of adult-care (e.g. internal medicine, neurology), or to "age-neutral" specialities such as ophtalmology, dermatology etc.).

  7. Hemichorea and dystonia due to frontal lobe meningioma

    Directory of Open Access Journals (Sweden)

    Abdul Qayyum Rana

    2014-01-01

    Full Text Available Tumors originating from the meninges, also known as meningiomas, have rarely been known to cause parkinsonian symptoms and other movement disorders. Although some cases of AV malformations causing movement disorders have been described in the literature, not much has been reported about meningiomas in this regard. The aim of this case report is to further highlight the importance of brain imaging in patients with movement disorders for even a benign tumor; and also emphasize the need for a careful movement disorder examination because more than one phenomenology of movement disorders may result from the mechanical pressure caused by a tumor. We present a case report of a patient with a heavily calcified right frontal lobe meningioma. Our patient had irregular, involuntary, brief, fleeting and unpredictable movements of her left upper and lower extremities, consistent with chorea. The patient also had abnormal dystonic posturing of her left arm while walking. This case report highlights the importance of brain imaging as well as careful neurological examinations of patients with benign meningiomas. Moreover, it illustrates the remarkable specificity yet clinical diversity of meningiomas in presentation through movement disorders.

  8. Drug-Induced Dyskinesia, Part 1: Treatment of Levodopa-Induced Dyskinesia.

    Science.gov (United States)

    Vijayakumar, Dhanya; Jankovic, Joseph

    2016-05-01

    Dyskinesias encompass a variety of different hyperkinetic phenomenologies, particularly chorea, dystonia, stereotypies, and akathisia. Levodopa-induced dyskinesia (LID) is one of the main types of drug-induced dyskinesia, occurring in patients with Parkinson's disease (PD) who have been treated with levodopa for long time, but this side effect may be encountered even within a few weeks or months after initiation of levodopa therapy. Based on the temporal pattern in relationship to levodopa dosing, LIDs are divided into "peak-dose dyskinesia," "diphasic dyskinesia," and "wearing off" or "off-period" dyskinesia, of which peak-dose dyskinesia is the most common, followed by off-period, and then diphasic dyskinesia. Treatment strategy includes identifying the kind of dyskinesia and tailoring treatment accordingly. Peak-dose dyskinesia is treated mainly by reducing individual doses of levodopa and adding amantadine and dopamine agonists, whereas off-period dystonia often responds to baclofen and botulinum toxin injections. Diphasic dyskinesias, occurring particularly in patients with young-onset PD, are the most difficult to treat. While fractionation of levodopa dosage is the most frequently utilized strategy, many patients require deep brain stimulation to control their troublesome motor fluctuations and LIDs. A variety of emerging (experimental) drugs currently in development promise to provide better control of LIDs and other levodopa-related complications in the near future. PMID:27091215

  9. Postpartum spontaneous colonic perforation due to antiphospholipid syndrome

    Institute of Scientific and Technical Information of China (English)

    Kamran Ahmed; Amir Darakhshan; Eleanor Au; Munther A Khamashta; Iraklis E Katsoulis

    2009-01-01

    The antiphospholipid syndrome (APS) is a multi-systemic disease being characterized by the presence of antiphospholipid antibodies that involves both arterial and venous systems resulting in arterial or venous thrombosis, fetal loss, thrombocytopenia, leg ulcers, livedo reticularis, chorea,and migraine. We document a previously unreported case of a 37-year-old female in whom APS was first manifested by infarction and cecal perforation following cesarean section. At laparotomy the underlying cause of colonic perforation was not clear and after resection of the affected bowel an ileo-colostomy was performed. The diagnosis of APS was established during post-operative hospital stay and the patient was commenced on warfarin.Eventually, she made a full recovery and had her stoma reversed after 4 mo. Pregnancy poses an increased risk of complications in women with APS and requires a more aggressive approach to the obstetric care. This should include full anticoagulation in the puerperium and frequent doppler ultrasound monitoring of uterine and umbilical arteries to detect complications such as preeclampsia and placental insufficiency.

  10. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  11. Role of Striatal-Enriched Tyrosine Phosphatase in Neuronal Function.

    Science.gov (United States)

    Kamceva, Marija; Benedict, Jessie; Nairn, Angus C; Lombroso, Paul J

    2016-01-01

    Striatal-enriched protein tyrosine phosphatase (STEP) is a CNS-enriched protein implicated in multiple neurologic and neuropsychiatric disorders. STEP regulates key signaling proteins required for synaptic strengthening as well as NMDA and AMPA receptor trafficking. Both high and low levels of STEP disrupt synaptic function and contribute to learning and behavioral deficits. High levels of STEP are present in human postmortem samples and animal models of Alzheimer's disease, Parkinson's disease, and schizophrenia and in animal models of fragile X syndrome. Low levels of STEP activity are present in additional disorders that include ischemia, Huntington's chorea, alcohol abuse, and stress disorders. Thus the current model of STEP is that optimal levels are required for optimal synaptic function. Here we focus on the role of STEP in Alzheimer's disease and the mechanisms by which STEP activity is increased in this illness. Both genetic lowering of STEP levels and pharmacological inhibition of STEP activity in mouse models of Alzheimer's disease reverse the biochemical and cognitive abnormalities that are present. These findings suggest that STEP is an important point for modulation of proteins required for synaptic plasticity. PMID:27190655

  12. Transplantation of Fetal Stem Cells: a New Horizon for Treat¬ment of Degenerative Diseases

    Directory of Open Access Journals (Sweden)

    Farideh RAZI

    2015-10-01

    Full Text Available Background: The purpose of the current study was to present an overview of different types of stem-cells and their application for treatment different degenerative disorders with specific focus on ongoing clinical trials. Methods: For the purpose of the current narrative review article, a comprehensive search was carried out on the existing literature in Google Scholar, PubMed and Scopus using the keywords: stem-cell (fetal and mesenchymal, regenerative. Relevant articles published from 1957 to 2013 are extracted and presented. Results: During the past decades, different types of stem-cells (including adult and fetal have been used for treatment of a wide range of immunologic (Severe Combined Immunodeficiency, Di George syndrome, neurologic (Parkinson’s disease, Huntington Chorea, Cerebral Palsy, musculoskeletal (ALS, and cardiovascular diseases (heart failure and cardiomyopathies as well as chronic and acute ulcers, and diabetes. Conclusion: The results of our study demonstrated that during the past decades, stem-cell technology has been applied for treatment of a wide range of degenerative disorders with considerable success. The current ongoing clinical trials clearly demonstrate a great potential and a promising future for the technology in terms of offering curative treatment for a wide range of hitherto-incurable diseases. Keywords: Stem cell, Transplantation, Treatment, Review Article 

  13. Vascular hemichorea: case report and review

    Directory of Open Access Journals (Sweden)

    Bárbara Martínez Alfonzo

    2014-04-01

    Full Text Available Chorea rarely complicates ischemic or hemorrhagic cerebral vascular lesions. Clinical symptoms usually involve one side of the body while the injury is situated on the contralateral cerebral hemisphere. Spontaneous remission is the norm, but sometimes symptomatic treatment is required. A 58-year-old male patient who suffers from untreated high blood pressure, type II obesity, smokes 6 packs of cigarettes per year and has a moderate intake of alcohol is presented. The patient’s recent history began three days before he appeared at the Emergency Department. His symptoms were ceaseless, involuntary movements in his left arm and foot during day and night with no restriction of voluntary movements. Physical examination and laboratory tests revealed no other findings. Magnetic resonance imaging of the brain showed hyperintensity in the right posterolateral thalamic region consistent with ischemic cerebrovascular disease. Symptomatic therapy was indicated and his underlying conditions were addressed. The importance of this case lies on the low prevalence as well as the scarcity of publications regarding vascular causes of hemichorea, including diagnosis, therapy and prognosis.

  14. Role of Striatal-Enriched Tyrosine Phosphatase in Neuronal Function

    Directory of Open Access Journals (Sweden)

    Marija Kamceva

    2016-01-01

    Full Text Available Striatal-enriched protein tyrosine phosphatase (STEP is a CNS-enriched protein implicated in multiple neurologic and neuropsychiatric disorders. STEP regulates key signaling proteins required for synaptic strengthening as well as NMDA and AMPA receptor trafficking. Both high and low levels of STEP disrupt synaptic function and contribute to learning and behavioral deficits. High levels of STEP are present in human postmortem samples and animal models of Alzheimer’s disease, Parkinson’s disease, and schizophrenia and in animal models of fragile X syndrome. Low levels of STEP activity are present in additional disorders that include ischemia, Huntington’s chorea, alcohol abuse, and stress disorders. Thus the current model of STEP is that optimal levels are required for optimal synaptic function. Here we focus on the role of STEP in Alzheimer’s disease and the mechanisms by which STEP activity is increased in this illness. Both genetic lowering of STEP levels and pharmacological inhibition of STEP activity in mouse models of Alzheimer’s disease reverse the biochemical and cognitive abnormalities that are present. These findings suggest that STEP is an important point for modulation of proteins required for synaptic plasticity.

  15. Xyloketal-derived small molecules show protective effect by decreasing mutant Huntingtin protein aggregates in Caenorhabditis elegans model of Huntington’s disease

    Science.gov (United States)

    Zeng, Yixuan; Guo, Wenyuan; Xu, Guangqing; Wang, Qinmei; Feng, Luyang; Long, Simei; Liang, Fengyin; Huang, Yi; Lu, Xilin; Li, Shichang; Zhou, Jiebin; Burgunder, Jean-Marc; Pang, Jiyan; Pei, Zhong

    2016-01-01

    Huntington’s disease is an autosomal-dominant neurodegenerative disorder, with chorea as the most prominent manifestation. The disease is caused by abnormal expansion of CAG codon repeats in the IT15 gene, which leads to the expression of a glutamine-rich protein named mutant Huntingtin (Htt). Because of its devastating disease burden and lack of valid treatment, development of more effective therapeutics for Huntington’s disease is urgently required. Xyloketal B, a natural product from mangrove fungus, has shown protective effects against toxicity in other neurodegenerative disease models such as Parkinson’s and Alzheimer’s diseases. To identify potential neuroprotective molecules for Huntington’s disease, six derivatives of xyloketal B were screened in a Caenorhabditis elegans Huntington’s disease model; all six compounds showed a protective effect. Molecular docking studies indicated that compound 1 could bind to residues GLN369 and GLN393 of the mutant Htt protein, forming a stable trimeric complex that can prevent the formation of mutant Htt aggregates. Taken together, we conclude that xyloketal derivatives could be novel drug candidates for treating Huntington’s disease. Molecular target analysis is a good method to simulate the interaction between proteins and drug compounds. Further, protective candidate drugs could be designed in future using the guidance of molecular docking results. PMID:27110099

  16. Tourette's syndrome: clinical features, pathophysiology, and therapeutic approaches.

    Science.gov (United States)

    Müller, Norbert

    2007-01-01

    Tourette's syndrome (TS) is a disorder characterized by simple and complex motor tics, vocal tics, and frequently obsessive-compulsive symptoms. Its onset occurs before the age of 21. Typically, TS shows a waxing and waning course, but a chronification of the tics, even during later life, is often observed. TS mainly occurs in boys, and shows genetic heritability with differing penetrance. The pathological mechanism is still unclear Neuroanatomical and neuroimaging studies, as well as effective treatment using antipsychotics, suggest that a disturbance of the dopaminergic system in the basal ganglia plays an important role in the pathogenesis of TS. Several possibly causative mechanisms of the disturbed dopaminergic neurotransmission are discussed, with the main emphasis on the-infection-triggered-inflammatory immune process. Extrapyramidal movement disorders are known to occur as a symptom of poststreptococcal disease, such as in Sydenham's chorea. Cases of childhood TS are proposed to be caused by such a poststreptococcal mechanism, being part of a spectrum of childhood neurobehavioral disorders termed pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection (PANDAS). The overlap between TS and PANDAS is discussed, and a critical view of the PANDAS concept is presented. The therapeutic implications of the different pathological mechanisms are described, taking into consideration not only the acute or chronic natures of different infections, but also an autoimmune process. Moreover, therapeutic strategies using typical and atypical antipsychotics, and also experimental therapies such as repetitive transcranial magnetic stimulation and deep brain stimulation, are critically discussed.

  17. [The concept of tic in the history of abnormal movements].

    Science.gov (United States)

    Dordain, G

    1986-01-01

    History of abnormal movements started during the 14th century. At that time the St Vitus' Dance was described, but the nosology of dyskinesias remained confusing during the next five centuries. The concept of tic was elaborated in France during the 18th century. It remained too large a concept however. Definitive semiologies appeared at the end of the 19th century, thus allowing tics to emerge from the "chaos of choreas". The etymology of the word "tic" still remains mysterious. In 1905, Meige thought that the word tic was used for the first time by reference to horses. He referred to the tic of the bear in the horse described by Rudler and Chomel at The Société de Neurologie de Paris in 1903. Veterinarians were thus probably the first to describe the word. If so, however, the horse must leave anteriority to the goat. The word Ticq was used in 1611 as mentioned by the French dictionary Robert. The word is said to be an onomatopea and is compared to the italian word ticchio which means caprice. Another dictionary (Littré) suggest the german word "ticken", which means "to touch slightly", the galic word tacaid (sudden pain) and the german ziki (young goat), a word which could have lead to ticchio as capra, goat in italian, gave capricio.

  18. [Tics and Gilles de la Tourette syndrome].

    Science.gov (United States)

    de Mattos, J P; de Rosso, A L

    1995-03-01

    The concept of tic was developed at the end of the XIX century, emerging from the "chaos of choreas". Tic is defined as involuntary contractions of agonist and antagonist muscles in one or more parts of the body. It can be suppressed by voluntary efforts for seconds or hours, followed by exacerbations. Gilles de la Tourette's original article was published in 1885, in which he described nine patients with tics, and vocalisations. The pathogenesis of Gilles de la Tourette syndrome remained obscure. However, three factors have been considered: the neurochemical factor, related to the increased dopaminergic activity at the basal ganglia; the genetic factor and the non-genetic factors, for which environment more than genetic factors are involved. Pathologic examinations failed to reveal structural lesions, but PET studies showed metabolic hypofunction on the frontal, cingulate and possibly insular cortex, and on the inferior corpus striatum. The motor tics as well as the vocal tics can be simple or complex and are present in all patients. Other signs can be added to the previous tics: sensory tics, echophilia, coprophilia, obsessions, compulsions and impulsions. Diagnostic criteria of Gilles de la Tourette syndrome are based on: age of onset; presence of motor and vocal tics; voluntary suppression of the movements; variation in number, type, location and severity of tics; duration of more than one year. Haloperidol is the drug of choice for the treatment of Tourette's syndrome.

  19. PANDAS: the search for environmental triggers of pediatric neuropsychiatric disorders. Lessons from rheumatic fever.

    Science.gov (United States)

    Garvey, M A; Giedd, J; Swedo, S E

    1998-09-01

    Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) is a relatively new diagnostic construct applied to children or adolescents who develop, and have repeated exacerbations of, tic disorders and/or obsessive-compulsive disorder following group A beta-hemolytic streptococcal infections. The proposed pathophysiology is that the group A beta-hemolytic streptococcal bacteria trigger antibodies that cross-react with the basal ganglia of genetically susceptible hosts leading to obsessive-compulsive disorder and/or tics. This is similar to the etiologic mechanisms proposed for Sydenham's chorea, in which group A beta-hemolytic streptococcal antibodies cross-react with the basal ganglia and result in abnormal behavior and involuntary movements. When first proposed, there was much controversy about the idea that streptococcal infections were etiologically related to rheumatic fever. In a like manner, discussion has arisen about the concept of infection-triggered obsessive-compulsive disorder and tic disorders. We review the historical background to these controversies, give an update on the findings provided by research on PANDAS, and address areas of future study.

  20. Huntington's Disease and Striatal Signaling

    Directory of Open Access Journals (Sweden)

    Emmanuel eRoze

    2011-08-01

    Full Text Available Huntington’s Disease (HD is the most frequent neurodegenerative disease caused by an expansion of polyglutamines (CAG. The main clinical manifestations of HD are chorea, cognitive impairment and psychiatric disorders. The transmission of HD is autosomal dominant with a complete penetrance. HD has a single genetic cause, a well-defined neuropathology, and informative pre-manifest genetic testing of the disease is available. Striatal atrophy begins as early as 15 years before disease onset and continues throughout the period of manifest illness. Therefore, patients could theoretically benefit from therapy at early stages of the disease. One important characteristic of HD is the striatal vulnerability to neurodegeneration, despite similar expression of the protein in other brain areas. Aggregation of the mutated Huntingtin (HTT, impaired axonal transport, excitotoxicity, transcriptional dysregulation as well as mitochondrial dysfunction and energy deficits, are all part of the cellular events that underlie neuronal dysfunction and striatal death. Among these non-exclusive mechanisms, an alteration of striatal signaling is thought to orchestrate the downstream events involved in the cascade of striatal dysfunction.

  1. Cannabis in the Treatment of Dystonia, Dyskinesias, and Tics.

    Science.gov (United States)

    Koppel, Barbara S

    2015-10-01

    Cannabis has been used for many medicinal purposes, including management of spasms, dystonia, and dyskinesias, with variable success. Its use for tetanus was described in the second century BCE, but the literature continues to include more case reports and surveys of its beneficial effects in managing symptoms of hyperkinetic movement disorders than randomized controlled trials, making evidence-based recommendations difficult. This paper reviews clinical research using various formulations of cannabis (botanical products, oral preparations containing ∆(9)-tetrahydrocannabinol and/or cannabidiol) and currently available preparations in the USA (nabilone and dronabinol). This has been expanded from a recent systematic review of cannabis use in several neurologic conditions to include case reports and case series and results of anonymous surveys of patients using cannabis outside of medical settings, with the original evidence classifications marked for those papers that followed research protocols. Despite overlap in some patients, dyskinesias will be treated separately from dystonia and chorea; benefit was not established beyond individual patients for these conditions. Tics, usually due to Tourettes, did respond to cannabis preparations. Side effects reported in the trials will be reviewed but those due to recreational use, including the dystonia that can be secondary to synthetic marijuana preparations, are outside the scope of this paper.

  2. Neurological implications and neuropsychological considerations on folk music and dance.

    Science.gov (United States)

    Sironi, Vittorio A; Riva, Michele A

    2015-01-01

    Neurological and neuropsychological aspects of folk music and traditional dance have been poorly investigated by historical and scientific literature. Some of these performances could be indeed the manifestation of latent pathological conditions or the expression of liberation rituals. This chapter aimed at analyzing the relationships between traditional dance, folk music, and neurological and psychiatric disorders. Since ancient times, dance has been used in the individual or collective as treatment of some diseases, including epilepsy and movement disorders (dyskinesia, chorea, etc.). Dionysia in Ancient Greece, St. Vitus dance in the Middle Age, tarantism and other traditional dances of southern Italy and of non-Western countries might be credited as curative rituals of these neurological and psychiatric conditions. During the nineteenth century, dance was also used for the treatment of psychiatric patients; the relationship between dance and insanity could also be reflected in classical ballets and music of that period. Nowadays, neuropsychiatric manifestations could also be evidenced in modern dances (mass fainting at rock concerts, flash mobs); some ballroom dances are commonly used for the rehabilitation of patients suffering from neurodegenerative and psychiatric conditions. Interdisciplinary research on these subjects (ethnomusicology and cultural anthropology, clinical neurology and dynamic psychology, neuroradiology and neurophysiology, and socioneurology and neuromusicology) should be increased. PMID:25725916

  3. [Adult-onset rare diseases].

    Science.gov (United States)

    Pfliegler, György; Kovács, Erzsébet; Kovács, György; Urbán, Krisztián; Nagy, Valéria; Brúgós, Boglárka

    2014-03-01

    The present paper is focusing on rare diseases manifesting in late childhood or adulthood. A part of these syndromes are not of genetic origin, such as relatively or absolutely rare infections, autoimmune diseases, tumours, or diseases due to rare environmental toxic agents. In addition, even a large proportion of genetic disorders may develop in adulthood or may have adult forms as well, affecting are almost each medical specialization. Examples are storage disorders (e.g. adult form of Tay-Sachs disease, Gaucher-disease), enzyme deficiencies (e.g. ornithin-transcarbamylase deficiency of the urea cycle disorders), rare thrombophilias (e.g. homozygous factor V. Leiden mutation, antithrombin deficiency), or some rare monogenic disorders such as Huntington-chorea and many others. It is now generally accepted that at least half of the 6-8000 "rare diseases" belong either to the scope of adult-care (e.g. internal medicine, neurology), or to "age-neutral" specialities such as ophtalmology, dermatology etc.). PMID:24566697

  4. Molecular analysis of the (CAGN repeat causing Huntington′s disease in 34 Iranian families

    Directory of Open Access Journals (Sweden)

    Hormozian F

    2004-01-01

    Full Text Available Huntington′s disease (HD is an inherited neurodegenerative disorder characterized by chorea and progressive dementia. The mutation causing the disease has been identified as an unstable expansion of a trinucleotide (CAG n at the 5′ end of the IT 15 gene on chromosome 4. We have analyzed the distribution of CAG repeats in 71 Iranian individuals (34 patients and 37 unaffected family members belonging to 31 unrelated families thought to segregate HD. We found one expanded CAG allele in 22 individuals (65% belonging to 21 unrelated families. In these HD patients, expanded alleles varied from 40 to 83 CAG units and normal alleles varied from 13 to 36 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r= - 0.51; P=0. 1. In addition, we genotyped 25 unrelated control individuals (total of 50 alleles and found normal CAG repeats varying from 10 to 34 units. In conclusion, our results showed that molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling. This Study is the first report of molecular diagnosis of Huntington disease among Iranian population and ever in Middle East and with regard to high frequency of consanguinity marriage in this region.

  5. What should we want to know about our future? A Kantian view on predictive genetic testing.

    Science.gov (United States)

    Heinrichs, Bert

    2005-01-01

    Recent advances in genomic research have led to the development of new diagnostic tools, including tests which make it possible to predict the future occurrence of monogenetic diseases (e.g. Chorea Huntington) or to determine increased susceptibilities to the future development of more complex diseases (e.g. breast cancer). The use of such tests raises a number of ethical, legal and social issues which are usually discussed in terms of rights. However, in the context of predictive genetic tests a key question arises which lies beyond the concept of rights, namely, What should we want to know about our future? In the following I shall discuss this question against the background of Kant's Doctrine of Virtue. It will be demonstrated that the system of duties of virtue that Kant elaborates in the second part of his Metaphysics of Morals offers a theoretical framework for addressing the question of a proper scope of future knowledge as provided by genetic tests. This approach can serve as a source of moral guidance complementary to a justice perspective. It does, however, not rest on the-rather problematic--claim to be able to define what the "good life" is. PMID:15906937

  6. Huntington Disease: Current Advances in Pathogenesis and Recent Therapeutic Strategies

    Directory of Open Access Journals (Sweden)

    Tanveer A. Wani

    2011-04-01

    Full Text Available Huntington's disease (HD is an inherited autosomal, progressive neurodegenerative disorder associated with involuntary abnormal movements (chorea, cognitive impairments and psychiatric disturbances. HD is caused by an abnormal expansion of a CAG region located in exon 1 of the gene encoding the huntingtin protein (Htt and is the causative factor in the pathogenesis of HD. However, recent evidences show that impaired mitochondrial function plays a key role in the pathogenic processes of the desease. The underlying mechanisms by which mutant Htt (mHtt causes HD have not been fully elucidated, however mutant Htt can impair mitochondrial function by dysregulation of transcriptional processes, calcium dyshomeostasis, and defective mitochondrial bioenergetics. Mutant Htt induce intracellular Ca2+ in neurons affected by HD and increased intracellular Ca2+ excessively enter mitochondria and induce to open the mitochondrial permeability transition pores (mPTP, leading to decreased mitochondrial ATP, and neuronal death. Transcriptional processes regulated by peroxisome proliferator-activated receptor γ (PPARγ coactivator-1α (PGC-1α, which are critical for mitochondrial biogenesis, have also been shown to be impaired in HD. This review article discusses current developments, in determining the role of mitochondrial morphological and functional abnormalities contributing to the pathogenesis of HD and also discusses the current other possible therapeutic interventions.

  7. Functional MRT in psychiatry and neurology. 2. rev. and upd. ed.

    International Nuclear Information System (INIS)

    The book on functional MRT in psychiatry and neurology covers the following topics: (I) Fundamentals: functional neuro-anatomy, fundamentals of NMR imaging, basic research on the clinical use for diagnostics and therapy; basics of morphometry; real-time fMRT, planning and execution of experimental paradigms; data analysis and statistics; reliability and quality of fMRT experiments; eye movement, neuropharmacologic functional imaging, gender dependent effects, age dependent effects, resting state fMRT; meta analyses. (II) Higher brain achievements: movement and action, perception and attention, visual system and object processing, auditory system, executive functions, somatosensoric system, memory, learning and gratification system, functional neuro-anatomy of speech, number processing and calculation, connectivity, social cognition, emotions, olfactory system, functional imaging in the pain research. (III) Disease pattern: dystonia, Parkinson syndrome, Chorea Huntington, aphasia, apraxia, neglect, amnesia, function recovery following apoplexy, schizophrenia, affective disturbances, anxiety and fear, post-traumatic disturbances, hyperactivity syndrome, personality disorder. (IV) Working tools: brain atlas, tool for integrated analyses of structure, functionality and connectivity (SPM anatomy toolbox).

  8. The internal state of medium spiny neurons varies in response to different input signals

    Directory of Open Access Journals (Sweden)

    Miller Gary W

    2010-03-01

    Full Text Available Abstract Background Parkinson's disease, schizophrenia, Huntington's chorea and drug addiction are manifestations of malfunctioning neurons within the striatum region at the base of the human forebrain. A key component of these neurons is the protein DARPP-32, which receives and processes various types of dopamine and glutamate inputs and translates them into specific biochemical, cellular, physiological, and behavioral responses. DARPP-32's unique capacity of faithfully converting distinct neurotransmitter signals into appropriate responses is achieved through a complex phosphorylation-dephosphorylation system that evades intuition and predictability. Results To gain deeper insights into the functioning of the DARPP-32 signal transduction system, we developed a dynamic model that is robust and consistent with available clinical, pharmacological, and biological observations. Upon validation, the model was first used to explore how different input signal scenarios are processed by DARPP-32 and translated into distinct static and dynamic responses. Secondly, a comprehensive perturbation analysis identified the specific role of each component on the system's signal transduction ability. Conclusions Our study investigated the effects of various patterns of neurotransmission on signal integration and interpretation by DARPP-32 and showed that the DARPP-32 system has the capability of discerning surprisingly many neurotransmission scenarios. We also screened out potential mechanisms underlying this capability of the DARPP-32 system. This type of insight deepens our understanding of neuronal signal transduction in normal medium spiny neurons, sheds light on neurological disorders associated with the striatum, and might aid the search for intervention targets in neurological diseases and drug addiction.

  9. Genetic modifiers of Huntington's disease.

    Science.gov (United States)

    Gusella, James F; MacDonald, Marcy E; Lee, Jong-Min

    2014-09-15

    Huntington's disease (HD) is a devastating neurodegenerative disorder that directly affects more than 1 in 10,000 persons in Western societies but, as a family disorder with a long, costly, debilitating course, it has an indirect impact on a far greater proportion of the population. Although some palliative treatments are used, no effective treatment exists for preventing clinical onset of the disorder or for delaying its inevitable progression toward premature death, approximately 15 years after diagnosis. Huntington's disease involves a movement disorder characterized by chorea, as well as a variety of psychiatric disturbances and intellectual decline, with a gradual loss of independence. A dire need exists for effective HD therapies to alleviate the suffering and costs to the individual, family, and health care system. In past decades, genetics, the study of DNA sequence variation and its consequences, provided the tools to map the HD gene to chromosome 4 and ultimately to identify its mutation as an expanded CAG trinucleotide repeat in the coding sequence of a large protein, dubbed huntingtin. Now, advances in genetic technology offer an unbiased route to the identification of genetic factors that are disease-modifying agents in human patients. Such genetic modifiers are expected to highlight processes capable of altering the course of HD and therefore to provide new, human-validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.

  10. Imaging the PCP site of the NMDA ion channel

    Energy Technology Data Exchange (ETDEWEB)

    Waterhouse, Rikki N. E-mail: rnw7@columbia.edu

    2003-11-01

    The N-methyl-D-aspartate (NMDA) ion channel plays a role in neuroprotection, neurodegeneration, long-term potentiation, memory, and cognition. It is implicated in the pathophysiology of several neurological and neuropsychiatric disorders including Parkinson's Disease, Huntington's Chorea, schizophrenia, alcoholism and stroke. The development of effective radiotracers for the study of NMDA receptors is critical for our understanding of their function, and their modulation by endogenousr substances or therapeutic drugs. Since the NMDA/PCP receptor lies within the channel, it is a unique target and is theoretically accessible only when the channel is in the active and 'open' state, but not when it is in the inactive or 'closed' state. The physical location of the NMDA/PCP receptor not only makes it an important imaging target but also complicates the development of suitable PET and SPECT radiotracers for this site. An intimate understanding of the biochemical, pharmacological, physiological and behavioral processes associated with the NMDA ion channel is essential to develop improved imaging agents. This review outlines progress made towards the development of radiolabeled agents for PCP sites of the NMDA ion channel. In addition, the animal and pharmacological models used for in vitro and in vivo assessment of NMDA receptor targeted agents are discussed.

  11. Therapeutic advances in Huntington's Disease.

    Science.gov (United States)

    Shannon, Kathleen M; Fraint, Avram

    2015-09-15

    Huntington's disease is a rare hereditary degenerative disease with a wide variety of symptoms that encompass movement, cognition, and behavior. The genetic mutation that causes the disease has been known for more than 20 y, and animal models have illuminated a host of intracellular derangements that occur downstream of protein translation. A number of clinical trials targeting these metabolic consequences have failed to produce a single effective therapy, although clinical trials continue. New strategies targeting the protein at the level of transcription, translation, and posttranslational modification and aggregation engender new hope that a successful strategy will emerge, but there is much work ahead. Some of the clinical manifestations of the illness, particularly chorea, affective symptoms, and irritability, are amenable to palliative strategies, but physicians have a poor evidence base on which to select the best agents. Clinical trials since 2013 have dashed hopes that coenzyme Q10 or creatine might have disease-modifying properties but suggested other agents were safe or hinted at efficacy (cysteamine, selisistat, hydroxyquinoline) and could proceed into later-stage disease modification trials. The hunt for effective symptom relief suggested that pridopidine might be shown effective given the right outcome measure. This review summarizes recent progress in HD and highlights promising new strategies for slowing disease progression and relieving suffering in HD. PMID:26226924

  12. A conserved function in phosphatidylinositol metabolism for mammalian Vps13 family proteins.

    Directory of Open Access Journals (Sweden)

    Jae-Sook Park

    Full Text Available The Vps13 protein family is highly conserved in eukaryotic cells. In humans, mutations in the gene encoding the family member VPS13A lead to the neurodegenerative disorder chorea-acanthocytosis. In the yeast Saccharomyces cerevisiae, there is just a single version of VPS13, thereby simplifying the task of unraveling its molecular function(s. While VPS13 was originally identified in yeast by its role in vacuolar sorting, recent studies have revealed a completely different function for VPS13 in sporulation, where VPS13 regulates phosphatidylinositol-4-phosphate (PtdIns(4P levels in the prospore membrane. This discovery raises the possibility that the disease phenotype associated with vps13A mutants in humans is due to misregulation of PtdIns(4P in membranes. To determine whether VPS13A affects PtdIns(4P in membranes from mammalian neuronal cells, phosphatidylinositol phosphate pools were compared in PC12 tissue culture cells in the absence or presence of VPS13A. Consistent with the yeast results, the localization of PtdIns(4P is specifically altered in VPS13A knockdown cells while other phosphatidylinositol phosphates appear unaffected. In addition, VPS13A is necessary to prevent the premature degeneration of neurites that develop in response to Nerve Growth Factor. The regulation of PtdIns(4P is therefore a conserved function of the Vps13 family and may play a role in the maintenance of neuronal processes in mammals.

  13. Deep brain stimulation for movement disorders: update on recent discoveries and outlook on future developments.

    Science.gov (United States)

    Mahlknecht, Philipp; Limousin, Patricia; Foltynie, Thomas

    2015-11-01

    Modern deep brain stimulation (DBS) has become a routine therapy for patients with movement disorders such as Parkinson's disease, generalized or segmental dystonia and for multiple forms of tremor. Growing numbers of publications also report beneficial effects in other movement disorders such as Tourette's syndrome, various forms of chorea and DBS is even being studied for Parkinson's-related dementia. While exerting remarkable effects on many motor symptoms, DBS does not restore normal neurophysiology and therefore may also have undesirable side effects including speech and gait deterioration. Furthermore, its efficacy might be compromised in the long term, due to progression of the underlying disease. Various programming strategies have been studied to try and address these issues, e.g., the use of low-frequency rather than high-frequency stimulation or the targeting of alternative brain structures such as the pedunculopontine nucleus. In addition, further technical developments will soon provide clinicians with an expanded choice of hardware such as segmented electrodes allowing for a steering of the current to optimize beneficial effects and reduce side effects as well as the possibility of adaptive stimulation systems based on closed-loop concepts with or without accompanying advances in programming and imaging software. In the present article, we will provide an update on the most recent achievements and discoveries relevant to the application of DBS in the treatment of movement disorder patients and give an outlook on future clinical and technical developments. PMID:26037016

  14. MR findings in pontocerebellar hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Uhl, M.; Pawlik, H.; Laubenberger, J.; Langer, M. [Department of Radiology, Division of Paediatric Radiology, University Hospital of Freiburg, Freiburg (Germany); Darge, K. [Department of Paediatric Radiology, Children`s Hospital of the University of Heidelberg, Heidelberg (Germany); Baborie, A. [Department of Neuropathology, Neurozentrum, University of Freiburg, Freiburg (Germany); Korinthenberg, R. [Department of Neuropaediatrics, Children`s Hospital, University of Freiburg, Freiburg (Germany)

    1998-07-01

    We present four cases with combined hypoplasia of the cerebellum and the ventral pons - pontocerebellar hypoplasia (PCH). PCH represents an autosomal recessive neurodegenerative disorder with fetal onset. The disease is rare, with less than 20 cases having been reported. The main findings of PCH and the inclusion criteria for our cases can be summarised as progressive microcephaly from birth, pontocerebellar hypoplasia documented by MRI and marked chorea, which may change, later in childhood, to more dystonic patterns. The cerebral cortex becomes progressively atrophic. Motor and mental development are delayed, and epilepsy, mainly tonic-clonic seizures, is frequent. The MRI features in all of our cases were: (1) Hypoplastic cerebellum situated close to the tentorium. The hypoplastic cerebellum has a reduced number of folia, in contrast to the normal number of thin folia in simple cerebellar atrophy. (2) The cerebellar hemispheres are reduced to bean-like or wing-like structures. The cerebellar hemispheres appear to `float` in the posterior fossa. (3) Markedly hypoplastic ventral pons. (4) Slight atrophy of the supratentorial gyral pattern. (5) Dilated cerebromedullary cistern and fourth ventricle. (6) Delayed myelination of the white matter. (7) No significant disorganisation of brain architecture and no severe corpus callosum defect. (orig.) With 3 figs., 2 tabs., 13 refs.

  15. [Evaluation of a Neuropsychiatric Disorder: From PANDAS to PANS and CANS].

    Science.gov (United States)

    Baytunca, Muharrem Burak; Donuk, Tuğba; Erermiş, Serpil

    2016-01-01

    PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections) syndrome is a disorder seen before adolescence that possesses an abrupt onset of obsessive-compulsive disorder symptoms and/or tics. Swedo and colleagues defined this disorder in 1998 as a syndrome related to Group A streptoccoccus (GAS) infection with neurological issues, such as motor hyperactivation and choreiform movements. The progress of the disorder may be described as wax-and-waning, apart from abrupt onset, and this relapse and remission course is associated with exacerbating infections, according to the creators of PANDAS syndrome. Ruling out of Rheumatoid Fever and Sydenham's Chorea was a necessity for making a proper diagnosis. Since the recognition of this syndrome, clinicians encountered many children who could not fulfill all 5 criteria, which must be met for PANDAS diagnosis. In addition, due to literature showing failure and lack of strong evidence of a major role of GAS, the newly-defined categories PANS (Pediatric Acute-onset Neuropsychiatric Syndrome) and CANS (Childhood Acute Neuropsychiatric Syndrome) were created to encompass those of "almost met" non-PANDAS cases. PANS and CANS include concurrent significant psychiatric symptoms with abrupt onset of OCD symptoms and/or tics but do not require identification of any infection agent, immune dysfunction, or enviromental precipitants. In this paper, we aimed to discuss PANS/ CANS, alterations of PANDAS, and diagnoses in which "almost met" PANDAS patients should be classified on the basis of a case who developed an abrupt onset of anxiety, obsessions, and vocal tics. PMID:27370066

  16. A case of vitamin B12 deficiency with involuntary movements and bilateral basal ganglia lesions.

    Science.gov (United States)

    Kitamura, Taisuke; Gotoh, Seiji; Takaki, Hayato; Kiyuna, Fumi; Yoshimura, Sohei; Fujii, Kenichiro

    2016-07-28

    An 86-year-old woman with a one-year history of dementia was admitted to our hospital complaining of loss of appetite, hallucinations, and disturbance of consciousness. She gradually presented with chorea-like involuntary movements of the extremities. Diffusion-weighted magnetic resonance imaging (MRI) showed bilateral symmetrical hyperintense signals in the basal ganglia. The serum vitamin B12 level was below the lower detection limit of 50 pg/ml. The homocysteine level was markedly elevated at 115.8 nmol/ml. Anti-intrinsic factor and anti-parietal cell antibody tests were positive. Gastrointestinal endoscopy revealed atrophic gastritis. The patient was diagnosed with encephalopathy due to vitamin B12 deficiency caused by pernicious anemia. Involuntary movements and MRI abnormalities improved with parenteral vitamin B12 supplementation. Bilateral basal ganglia lesions are rare manifestations of adult vitamin B12 deficiency. The present case is considered valuable in identifying the pathophysiology of involuntary movement due to vitamin B12 deficiency. PMID:27356735

  17. Development of radioactive agent for image diagnosis of brain dopamine receptor

    International Nuclear Information System (INIS)

    Recently, MRI is often used to examine pathological degeneration of intracerebellar neurons of patients with Parkinson's disease, Huntington's chorea, spinocerebellar degeneration, etc. However, the efficacy of MRI is still unsatisfactory at present. In this project, the efficacy of SPECT was examined to evaluate the cerebellar functions in the previous year and it was found that the benzodiazepin receptor in CNS was detectable using SPECT with 125I iomazenil. In this year, ocular movements as one of cerebellar functions was attempted using functional MRI and patients' ocular movements were analyzed on the basis of the saccade during functional MRI imaging by Ober2 (Permobil Sweden). Image of an activated region in the frontal eye field (FEF), supplementary eye field (SEF), parietal eye field (PEF), posterior lobe or cerebellum was obtainable by Ober2-attached functional MRI. Especially, vermis 5, 6 and 7 lobules in the cerebellum were activated and random saccade was much stronger than regular saccade in the cerebellum. These results indicated that functional MRI was usable for clinical evaluation of patients with central nervous degeneration. (M.N.)

  18. Focal expression of mutant huntingtin in the songbird basal ganglia disrupts cortico-basal ganglia networks and vocal sequences.

    Science.gov (United States)

    Tanaka, Masashi; Singh Alvarado, Jonnathan; Murugan, Malavika; Mooney, Richard

    2016-03-22

    The basal ganglia (BG) promote complex sequential movements by helping to select elementary motor gestures appropriate to a given behavioral context. Indeed, Huntington's disease (HD), which causes striatal atrophy in the BG, is characterized by hyperkinesia and chorea. How striatal cell loss alters activity in the BG and downstream motor cortical regions to cause these disorganized movements remains unknown. Here, we show that expressing the genetic mutation that causes HD in a song-related region of the songbird BG destabilizes syllable sequences and increases overall vocal activity, but leave the structure of individual syllables intact. These behavioral changes are paralleled by the selective loss of striatal neurons and reduction of inhibitory synapses on pallidal neurons that serve as the BG output. Chronic recordings in singing birds revealed disrupted temporal patterns of activity in pallidal neurons and downstream cortical neurons. Moreover, reversible inactivation of the cortical neurons rescued the disorganized vocal sequences in transfected birds. These findings shed light on a key role of temporal patterns of cortico-BG activity in the regulation of complex motor sequences and show how a genetic mutation alters cortico-BG networks to cause disorganized movements. PMID:26951661

  19. The MAO-B inhibitor deprenyl reduces the oral tremor and the dopamine depletion induced by the VMAT-2 inhibitor tetrabenazine.

    Science.gov (United States)

    Podurgiel, Samantha J; Yohn, Samantha E; Dortche, Kristina; Correa, Merce; Salamone, John D

    2016-02-01

    Tetrabenazine (TBZ) is prescribed for the treatment of chorea associated with Huntington's disease. Via inhibition of the vesicular monoamine transporter (VMAT-2), TBZ blocks dopamine (DA) storage and depletes striatal DA; this drug also has been shown to induce Parkinsonian motor side effects in patients. Recently, TBZ was shown to induce tremulous jaw movements (TJMs) in rats and mice. TJMs are an oral tremor that has many of the characteristics of Parkinsonian tremor in humans. The present study focused upon the ability of the well-established antiparkinsonian agent deprenyl to attenuate the behavioral and neurochemical effects of 2.0mg/kg TBZ. Deprenyl is a selective and irreversible inhibitor of monoamine oxidase-B, and administration of deprenyl produced a dose-related suppression of TBZ-induced TJMs. A second experiment employed in vivo microdialysis to examine extracellular DA levels in the ventrolateral striatum, the neostriatal region most closely associated with the production of TJMs, after administration of TBZ and deprenyl. Consistent with the behavioral data, TBZ alone produced a biphasic effect on extracellular DA, with an initial increases followed by a prolonged decrease during the period in which TJMs are displayed. Co-administration of deprenyl with TBZ increased DA levels compared to rats treated with TBZ alone. These results provide support for use of TBZ as a rodent model of Parkinsonism, and future studies should utilize this model to evaluate putative anti-Parkinsonian agents. PMID:26590367

  20. Synthesis of carbon-11 labeled dexetimide and levetimide for studying muscarinic acetylcholine receptors

    International Nuclear Information System (INIS)

    The localization and quantitation of the muscarinic acetylcholine receptor (m-AChR) in the living human brain using a non-invasive method, such as positron emission tomography (PET), may provide valuable information about receptor changes which have been observed post mortem in patients with Huntington's chorea and Alzheimer's dementia, as well as normal brain mechanisms mediated by the m-AChR. Although quinuclidinyl benzilate has been radioiodinated and radiomethylatd, the former is not useful with PET and the latter does not penetrate the blood-brain barrier; therefore, the authors chose to radiolabel dexetimide, a ligand which labels m-AChR in vitro and in vivo, and levetimide, its inactive enantiomer. Carbon-11 labeled carbon dioxide is bubbled through a tetrahydrofuran (THF) solution of phenylmagnesium chloride (1 M, l ml) after which 2 mg of lithium aluminium hydride is added in THF (500 μl). After evaporation of the solvent, 48% hydriodic acid (l ml) is added and the solution is heated for 1 minute. Carbon-11 labeled benzyl iodide is extracted into methylene chloride, added to a solution of nor-benzyl dexetimide or levetimide, and heated for several minutes. Purification is accomplished using semi-preparative reverse phase high performance liquid chromatography (HPLC). Analytical HPLC is used to determine the radiochemical purity and specific activity

  1. ANIMAL MODELS FOR HUNTINGTON’S DISEASES: A REVIEW

    Directory of Open Access Journals (Sweden)

    Sharma Manisha

    2012-10-01

    Full Text Available Huntington's disease (HD is an inherited autosomal, progressive neurodegenerative disorder associated with involuntary abnormal movements (chorea, cognitive impairments and psychiatric disturbances. HD is caused by an abnormal expansion of a CAG region located in exon 1 of the gene encoding the huntingtin protein (Htt and is the causative factor in the pathogenesis of HD Animal models of HD have provided insight into disease pathology and the outcomes of thera- peutic strategies. Earlier studies of HD most often used toxin-induced models to study mitochondrial impairment and excitotoxicity-induced cell death, which are both mechanisms of degeneration seen in the HD brain. These models, based on 3-nitropropionic acid and quinolinic acid, respectively, are still often used in HD studies. The discovery in 1993 of the huntingtin mutation led to the creation of newer models that incorporate a similar genetic defect. These models, which include transgenic and knock-in rodents, are more representative of the HD progression and pathology. An even more recent model that uses a ovine transgenic model (sheep model,fly models ,cell cultures models for better understanding of gene mutation in and in mammalian and nonhuman primates, as it is difficult to produce genetic models in these species. This article examines the aforementioned models and describes their use in HD research, including aspects of the creation, de- livery, pathology, and tested therapies for each model.

  2. A monoclonal antibody TrkB receptor agonist as a potential therapeutic for Huntington's disease.

    Directory of Open Access Journals (Sweden)

    Daniel Todd

    Full Text Available Huntington's disease (HD is a devastating, genetic neurodegenerative disease caused by a tri-nucleotide expansion in exon 1 of the huntingtin gene. HD is clinically characterized by chorea, emotional and psychiatric disturbances and cognitive deficits with later symptoms including rigidity and dementia. Pathologically, the cortico-striatal pathway is severely dysfunctional as reflected by striatal and cortical atrophy in late-stage disease. Brain-derived neurotrophic factor (BDNF is a neuroprotective, secreted protein that binds with high affinity to the extracellular domain of the tropomyosin-receptor kinase B (TrkB receptor promoting neuronal cell survival by activating the receptor and down-stream signaling proteins. Reduced cortical BDNF production and transport to the striatum have been implicated in HD pathogenesis; the ability to enhance TrkB signaling using a BDNF mimetic might be beneficial in disease progression, so we explored this as a therapeutic strategy for HD. Using recombinant and native assay formats, we report here the evaluation of TrkB antibodies and a panel of reported small molecule TrkB agonists, and identify the best candidate, from those tested, for in vivo proof of concept studies in transgenic HD models.

  3. Imaging the PCP site of the NMDA ion channel

    International Nuclear Information System (INIS)

    The N-methyl-D-aspartate (NMDA) ion channel plays a role in neuroprotection, neurodegeneration, long-term potentiation, memory, and cognition. It is implicated in the pathophysiology of several neurological and neuropsychiatric disorders including Parkinson's Disease, Huntington's Chorea, schizophrenia, alcoholism and stroke. The development of effective radiotracers for the study of NMDA receptors is critical for our understanding of their function, and their modulation by endogenousr substances or therapeutic drugs. Since the NMDA/PCP receptor lies within the channel, it is a unique target and is theoretically accessible only when the channel is in the active and 'open' state, but not when it is in the inactive or 'closed' state. The physical location of the NMDA/PCP receptor not only makes it an important imaging target but also complicates the development of suitable PET and SPECT radiotracers for this site. An intimate understanding of the biochemical, pharmacological, physiological and behavioral processes associated with the NMDA ion channel is essential to develop improved imaging agents. This review outlines progress made towards the development of radiolabeled agents for PCP sites of the NMDA ion channel. In addition, the animal and pharmacological models used for in vitro and in vivo assessment of NMDA receptor targeted agents are discussed

  4. CT findings of hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

    International Nuclear Information System (INIS)

    Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) has recently been recognized as a clinicopathological entity. It may be defined as a multisystem degenerative disease of dominant inheritance, and characterized clinically by a combination of epilepsy, myoclonus, ataxia, dementia, and choreo-athetosis. This paper reports on the CT findings of ten patients (in four families) with DRPLA. In two families, the diagnosis was established on the basis of the clinicopathological findings, while in the other two, the diagnosis was made clinically. Although the CT findings were not identical in all patients, some degree of atrophic change was always observed in the cerebellum, brainstem, and cerebral cortex. Cerebellar atrophy was always accompanied by a dilatation of the fourth ventricle. Midbrain atrophy was characterized by a prominent tegmental atrophy and aqueductal dilatation, such as is seen in progressive supranuclear palsy. Of the four patients over 40 years of age, three had a diffuse hypodensity of the cerebral white matter on CT. To our knowledge, there have been no previous reports on this hypodensity in patients with spino-cerebellar degeneration or Huntington's chorea. CT may be helpful in the differential diagnosis of progressive neuro-degenerative disorders. (author)

  5. Fluorinated azabicycloesters as muscarinic receptor ligands for application with PET

    International Nuclear Information System (INIS)

    Human muscarinic acetylcholine receptors (MAR) play an important role in a number of physiological and behavioral responses. A correlation has been established between changes in the MAR density and human memory as well as to other specific neurodegenerative disorders such as Huntington's chorea or Alzheimer's dementia. MAR density has been observed, also, to decrease under the effect of several chemical agents such as organophosphorus compounds, barbiturates, ethanol or antidepressants. Most of the studies on human MAR were done on post-mortem samples obtained at autopsy and stored for variable times which may not reflect the actual in vivo status of such receptors. To carry out preliminary in vivo studies, the choice will be directed primarily to experimental animals. However, animal models for many of the neurodegenerative disorders may be inadequate. Several studies showed a dramatically increasing number of dementia cases which is leading to decreased survival among this group. Such a dramatic increase in Alzheimer's dementia cases and the inability to determine the density and distribution of MAR in vivo have stimulated the interest of many researchers to investigate MAR mapping

  6. Dopamine imbalance in Huntington's Disease: a mechanism for the lack of behavioral flexibility

    Directory of Open Access Journals (Sweden)

    Jane Y Chen

    2013-07-01

    Full Text Available Dopamine (DA plays an essential role in the control of coordinated movements. Alterations in DA balance in the striatum lead to pathological conditions such as Parkinson’s and Huntington’s diseases (HD. HD is a progressive, invariably fatal neurodegenerative disease caused by a genetic mutation producing an expansion of glutamine repeats and is characterized by abnormal dance-like movements (chorea. The principal pathology is the loss of striatal and cortical projection neurons. Changes in brain DA content and receptor number contribute to abnormal movements and cognitive deficits in HD. In particular, during the early hyperkinetic stage of HD, DA levels are increased whereas expression of DA receptors is reduced. In contrast, in the late akinetic stage, DA levels are significantly decreased and resemble those of a Parkinsonian state. Time-dependent changes in DA transmission parallel biphasic changes in glutamate synaptic transmission and may enhance alterations in glutamate receptor-mediated synaptic activity. In this review, we focus on neuronal electrophysiological mechanisms that may lead to some of the motor and cognitive symptoms of HD and how they relate to dysfunction in DA neurotransmission. Based on clinical and experimental findings, we propose that some of the behavioral alterations in HD, including reduced behavioral flexibility, may be caused by altered DA modulatory function. Thus, restoring DA balance alone or in conjunction with glutamate receptor antagonists could be a viable therapeutic approach.

  7. Gamma-aminobutyric acid (GABA in cerebrospinal fluid.

    Directory of Open Access Journals (Sweden)

    Kuroda,Hiroo

    1983-06-01

    Full Text Available Levels of gamma-aminobutyric acid (GABA in cerebrospinal fluid (CSF were measured by radioreceptor assay (RRA in 25 normal controls and in 121 patients with various central nervous system disorders. CSF-GABA levels could be measured down to 5 pmoles/ml reliably by this assay. In normal controls, the mean (+/- SEM GABA level in CSF was 127 +/- 5.2 pmoles/ml. There was no correlation between age, sex and the CSF-GABA level in normal controls. The lowest CSF-GABA level, which was 60 +/- 6.0 pmoles/ml, was observed in alcoholic patients suffering from cerebellar ataxia. The CSF-GABA levels were quite low in patients with Alzheimer's disease, late cortical cerebellar atrophy, neuro-Behcet's syndrome, olivopontocerebellar atrophy, Huntington's chorea, Parkinson's disease and cerebral hemorrhage. On the other hand, the CSF-GABA levels of meningitis patients were significantly increased. These findings suggest that measuring the CSF-GABA level is quite beneficial in the diagnosis and pathophysiological determinations of some diseases.

  8. The application of xenon for CT contrast medium

    International Nuclear Information System (INIS)

    The possibility of the application of Xenon (Xe) as a CT contrast medium was studied. CT scanning was performed with a mixture of 50% Xe and 50% O2 in a closed inhaler. Simple CT images of the basal nuclei of normal subjects and CT images produced by the enchancement of Xe of the basal nuclei of normal subjects were compared. Hounsfield numbers were compared before and 3 minutes after the inhalation of 50% Xe. When iodine and 50% Xe were compared for contrast characteristics, iodine had no contrast characteristic in the case of healthy cerebral blood vessels, but the brain itself was outlined clearly with Xe, which is very effective in the diagnosis of demyelinating diseases. Xe is also effective in the diagnosis of Huntington's chorea because it deeply stains basal nuclei. CT scanning with Xe possibly could be applied to diagnose cerebral diseases, such as leukodystrophy and encephalitis, which are difficult to diagnose with conventional CT, to determine cerebral tumor changes and cerebrovascular diseases, to determine the type of surgery, and to determine cerebral circulation. (Nishio, M.)

  9. Xyloketal-derived small molecules show protective effect by decreasing mutant Huntingtin protein aggregates in Caenorhabditis elegans model of Huntington's disease.

    Science.gov (United States)

    Zeng, Yixuan; Guo, Wenyuan; Xu, Guangqing; Wang, Qinmei; Feng, Luyang; Long, Simei; Liang, Fengyin; Huang, Yi; Lu, Xilin; Li, Shichang; Zhou, Jiebin; Burgunder, Jean-Marc; Pang, Jiyan; Pei, Zhong

    2016-01-01

    Huntington's disease is an autosomal-dominant neurodegenerative disorder, with chorea as the most prominent manifestation. The disease is caused by abnormal expansion of CAG codon repeats in the IT15 gene, which leads to the expression of a glutamine-rich protein named mutant Huntingtin (Htt). Because of its devastating disease burden and lack of valid treatment, development of more effective therapeutics for Huntington's disease is urgently required. Xyloketal B, a natural product from mangrove fungus, has shown protective effects against toxicity in other neurodegenerative disease models such as Parkinson's and Alzheimer's diseases. To identify potential neuroprotective molecules for Huntington's disease, six derivatives of xyloketal B were screened in a Caenorhabditis elegans Huntington's disease model; all six compounds showed a protective effect. Molecular docking studies indicated that compound 1 could bind to residues GLN369 and GLN393 of the mutant Htt protein, forming a stable trimeric complex that can prevent the formation of mutant Htt aggregates. Taken together, we conclude that xyloketal derivatives could be novel drug candidates for treating Huntington's disease. Molecular target analysis is a good method to simulate the interaction between proteins and drug compounds. Further, protective candidate drugs could be designed in future using the guidance of molecular docking results. PMID:27110099

  10. Cannabinoids in Neurodegenerative Disorders and Stroke/Brain Trauma: From Preclinical Models to Clinical Applications.

    Science.gov (United States)

    Fernández-Ruiz, Javier; Moro, María A; Martínez-Orgado, José

    2015-10-01

    Cannabinoids form a singular family of plant-derived compounds (phytocannabinoids), endogenous signaling lipids (endocannabinoids), and synthetic derivatives with multiple biological effects and therapeutic applications in the central and peripheral nervous systems. One of these properties is the regulation of neuronal homeostasis and survival, which is the result of the combination of a myriad of effects addressed to preserve, rescue, repair, and/or replace neurons, and also glial cells against multiple insults that may potentially damage these cells. These effects are facilitated by the location of specific targets for the action of these compounds (e.g., cannabinoid type 1 and 2 receptors, endocannabinoid inactivating enzymes, and nonendocannabinoid targets) in key cellular substrates (e.g., neurons, glial cells, and neural progenitor cells). This potential is promising for acute and chronic neurodegenerative pathological conditions. In this review, we will collect all experimental evidence, mainly obtained at the preclinical level, supporting that different cannabinoid compounds may be neuroprotective in adult and neonatal ischemia, brain trauma, Alzheimer's disease, Parkinson's disease, Huntington's chorea, and amyotrophic lateral sclerosis. This increasing experimental evidence demands a prompt clinical validation of cannabinoid-based medicines for the treatment of all these disorders, which, at present, lack efficacious treatments for delaying/arresting disease progression, despite the fact that the few clinical trials conducted so far with these medicines have failed to demonstrate beneficial effects. PMID:26260390

  11. Striatal disorders dissociate mechanisms of enhanced and impaired response selection — Evidence from cognitive neurophysiology and computational modelling

    Directory of Open Access Journals (Sweden)

    Christian Beste

    2014-01-01

    Full Text Available Paradoxically enhanced cognitive processes in neurological disorders provide vital clues to understanding neural function. However, what determines whether the neurological damage is impairing or enhancing is unclear. Here we use the performance of patients with two disorders of the striatum to dissociate mechanisms underlying cognitive enhancement and impairment resulting from damage to the same system. In a two-choice decision task, Huntington's disease patients were faster and less error prone than controls, yet a patient with the rare condition of benign hereditary chorea (BHC was both slower and more error prone. EEG recordings confirmed significant differences in neural processing between the groups. Analysis of a computational model revealed that the common loss of connectivity between striatal neurons in BHC and Huntington's disease impairs response selection, but the increased sensitivity of NMDA receptors in Huntington's disease potentially enhances response selection. Crucially the model shows that there is a critical threshold for increased sensitivity: below that threshold, impaired response selection results. Our data and model thus predict that specific striatal malfunctions can contribute to either impaired or enhanced selection, and provide clues to solving the paradox of how Huntington's disease can lead to both impaired and enhanced cognitive processes.

  12. Non-ketotic hyperglycemia unmasks hemichorea

    Directory of Open Access Journals (Sweden)

    Abhijeet Danve

    2015-09-01

    Full Text Available Background: Chorea can be caused by a variety of diseases, including neurodegenerative disorders, vascular events, toxic-metabolic states, and immunologic and infectious diseases. We describe a patient who presented with hemichorea as the initial manifestation of Diabetes Mellitus (DM and responded partially to the glycemic control. Case report: A 63-year-old, healthy Hispanic man with no prior history of medical illness presented with subacute onset, gradually progressive hemichorea of 6 weeks’ duration. On evaluation, he was found to have non-ketotic hyperglycemia with high serum glucose (328 mg/dL, elevated hemoglobin A1C (9.9%, and absent ketones. Magnetic Resonance Imaging of the brain demonstrated hyper intense signals in bilateral basal ganglia on T1W images. He was diagnosed to have DM. Despite optimal glycemic control with insulin, the patient continued to have hemichorea at 3 months follow-up and required haloperidol for control of the involuntary movements. Significance: Involuntary movements, particularly hemichorea, can be a manifestation and rarely be a presenting sign of DM.

  13. Psychogenic movement disorder in human T-lymphotropic virus type 1 associated myelopathy

    Directory of Open Access Journals (Sweden)

    Marzia Puccioni-Sohler

    2016-01-01

    Full Text Available Human T-lymphotropic virus type 1 (HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP is a chronic inflammatory disorder of the spinal cord. Acute cases of HAM/TSP and those complicated by movement disorders are rarely reported. Otherwise, psychiatric disturbances are very frequent in infected patients. It can evolve to psychogenic disorders. The case of a 46-year-old woman with acute HAM/TSP complicated by depression and psychogenic movement disorders (chorea of the hands and dystonia-like facial symptoms is reported. Brain magnetic resonance imaging revealed non-specific small white matter lesions. The involuntary movements arose suddenly and disappeared when the patient was distracted. Two years of psychotherapy and psychiatric follow-up induced complete remission of the symptoms. The association of psychogenic movement disorders and HAM/TSP, increasing the range of neurological manifestations associated with HTLV-1, is related here. Early diagnosis of psychogenic movement disorders is very important to improve the prognosis and treatment of the two conditions, thereby improving the quality of life of HAM/TSP patients and avoiding irreversible sequelae.

  14. Synthesis of carbon-11 labeled dexetimide and levetimide for studying muscarinic acetylcholine receptors

    Energy Technology Data Exchange (ETDEWEB)

    Dannals, R.F.; Langstrom, B.; Ravert, H.T.; Wilson, A.A.; Wagner, H.N. Jr.

    1985-05-01

    The localization and quantitation of the muscarinic acetylcholine receptor (m-AChR) in the living human brain using a non-invasive method, such as positron emission tomography (PET), may provide valuable information about receptor changes which have been observed post mortem in patients with Huntington's chorea and Alzheimer's dementia, as well as normal brain mechanisms mediated by the m-AChR. Although quinuclidinyl benzilate has been radioiodinated and radiomethylatd, the former is not useful with PET and the latter does not penetrate the blood-brain barrier; therefore, the authors chose to radiolabel dexetimide, a ligand which labels m-AChR in vitro and in vivo, and levetimide, its inactive enantiomer. Carbon-11 labeled carbon dioxide is bubbled through a tetrahydrofuran (THF) solution of phenylmagnesium chloride (1 M, l ml) after which 2 mg of lithium aluminium hydride is added in THF (500 ..mu..l). After evaporation of the solvent, 48% hydriodic acid (l ml) is added and the solution is heated for 1 minute. Carbon-11 labeled benzyl iodide is extracted into methylene chloride, added to a solution of nor-benzyl dexetimide or levetimide, and heated for several minutes. Purification is accomplished using semi-preparative reverse phase high performance liquid chromatography (HPLC). Analytical HPLC is used to determine the radiochemical purity and specific activity.

  15. Movement disorders

    International Nuclear Information System (INIS)

    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

  16. Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms.

    Science.gov (United States)

    Dong, Yi; Sun, Yi-Min; Ni, Wang; Gan, Shi-Rui; Wu, Zhi-Ying

    2013-01-15

    Clinical heterogeneity is the prominent feature of spinocerebellar ataxia type 3 (SCA3) which is sometimes neglected and often impedes the timely diagnosis of patients. In this study, the clinical data of 201 unrelated Chinese SCA3 patients were retrospectively studied. The rare clinical features were summarized and the underlying genetic mutations were screened by direct DNA sequencing. Three patients were found primarily presenting with the rare clinical features, including dystonic phenotype without response to levodopa, chorea and memory decline, and hearing impairment, respectively. We firstly reported three diverse heterogeneities of SCA3 patients, which are quite uncommon in the Chinese SCA3 patients. Our results expanded the variable phenotypes of SCA3 and provided the explicit information for the rare and special SCA3 manifestations. Based on this new knowledge, we suggested that when the presentation was consistent with HD or DRD while negative in the corresponding genetic testing, SCA3 should be considered, and clinicians should divert partial attention to the examinations on the auditory system of SCA3 patients. PMID:23174085

  17. Functional MRT in psychiatry and neurology. 2. rev. and upd. ed.; Funktionelle MRT in Psychiatrie und Neurologie

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    Schneider, Frank [Universitaetsklinikum Aachen (Germany); Fink, Gereon R. (eds.) [Forschungszentrum Juelich GmbH (Germany); Uniklinik Koeln (Germany)

    2013-08-01

    The book on functional MRT in psychiatry and neurology covers the following topics: (I) Fundamentals: functional neuro-anatomy, fundamentals of NMR imaging, basic research on the clinical use for diagnostics and therapy; basics of morphometry; real-time fMRT, planning and execution of experimental paradigms; data analysis and statistics; reliability and quality of fMRT experiments; eye movement, neuropharmacologic functional imaging, gender dependent effects, age dependent effects, resting state fMRT; meta analyses. (II) Higher brain achievements: movement and action, perception and attention, visual system and object processing, auditory system, executive functions, somatosensoric system, memory, learning and gratification system, functional neuro-anatomy of speech, number processing and calculation, connectivity, social cognition, emotions, olfactory system, functional imaging in the pain research. (III) Disease pattern: dystonia, Parkinson syndrome, Chorea Huntington, aphasia, apraxia, neglect, amnesia, function recovery following apoplexy, schizophrenia, affective disturbances, anxiety and fear, post-traumatic disturbances, hyperactivity syndrome, personality disorder. (IV) Working tools: brain atlas, tool for integrated analyses of structure, functionality and connectivity (SPM anatomy toolbox).

  18. Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree

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    Guimarães João

    2006-02-01

    Full Text Available Abstract Background Huntington's disease (HD is a dominantly inherited, neurodegenerative disorder due to expansion of a polymorphic trinucleotide repeat in the short arm of chromosome 4. Clinical manifestations consist of a triad of choreic movements, cognitive decline and psychiatric syndromes starting in the fourth to fifth decade. Psychiatric manifestations vary and may precede motor and cognitive changes. Personality changes and depression occur most commonly. Paranoid schizophrenia-like symptoms occur in 6% to 25% of cases. Case report We describe a 55 year-old woman with an 8 yearlong history of behavioural changes, multi-thematic delusions and auditory hallucinations. History and mental state examination were suggestive of paranoid schizophrenia. Neurological examination revealed discrete, involuntary movements affecting her arms and trunk. Genotyping detected an expanded allele (43 trinucleotide repeats. A three-generation-long family history of chorea and schizophrenia-like psychosis was found. Conclusion HD-families have been reported in which schizophrenia-like syndromes emerged in all or most HD-affected members long before they developed extra-pyramidal or cognitive changes. This has been attributed to more than mere coincidence. We hypothesise that in these families the HD gene is transmitted along with a low load of small-effect "psychosis genes" which, in the presence of the severe cognitive changes of HD, manifest as a schizophrenia-like phenotype. Further research is needed in order to clarify the links between genetic loading and the emergence of psychotic symptoms in Huntington's disease.

  19. Valor de alguns exames complementares na Coréia de Sydenha

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    Aron J. Diament

    1972-09-01

    Full Text Available Sixty eight cases of Sydenham's chorea (SC were studied with the purpose of characterizing biologically the choreic individual by means of some laboratorial data. Based on antecedents, on the presence of recent infectious disease, on clinical examination, on electrocardiographs and x-rays of the heart, and according to a modified Jones criteria the patients were initially divided in three groups: aGroup 1 — 30 patients (case 1 to 30 which presented SC associated with active rheumatic fever (RF; b Group 2 — 20 patients (cases 31 to 50 which presented SC associated with a previou or present infectious state without active RF; c Group 3 — 18 patients (cases 51 to 68 which presented "pure" SC, not having anything in their antecedents, or in present history, nor in their physical examinations that could justify calling them "rheumatic" or "infectious". However the analysis of the clinical data, by means of the homogenization tests (qui square or the exact Fisher test and Goodman's contrast test showed the artificiality of this grouping, which could not be longer sustained. From the 68 cases studied the average age group was 9.9 years, with the maximum age being 17 years, and the minimum age being 4.5 years. 47 of the cases were females as compared to 21 males (2.2 to 1; 60 patients were white, 7 dark-skinned and one negro. The average evolution time of the choreic syndrome, at the time of the first consultation, was 6 months and 7 days, with a minimum of 13 days and a maximum of 60 months. The incidence of the outbreak as far as the season of the year is concerned, was as follows: 31 cases between autumn and winter; 14 cases in spring and 22 in summer. The following laboratory examinations have been made: a"classical acute phase serum reagents" (APSR: sedimentation rate, differential blood count, Weltmann reaction, mucoproteins, C reactive protein, antistreptolysin-O titter, electrophoresis of serum proteins; b copper and ceruloplasmin

  20. O perfil da antiestreptolisina O no diagnóstico da febre reumática aguda Antistreptolysin O titer profile in acute rheumatic fever diagnosis

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    Claudia Saad Magalhães Machado

    2001-04-01

    Full Text Available OBJETIVO: estabelecer o perfil dos títulos de ASO, mediante o diagnóstico diferencial da FRA com outras afecções que também cursam com níveis elevados de ASO. MÉTODOS: foram estudados 78 casos de FRA na apresentação e seguimento, 22 de coréia isolada, 45 de infecções orofaringeanas recorrentes (IOR e 23 de artrites idiopáticas juvenis (AIJ, com início ou reativação recente. A determinação seqüencial de ASO (UI/ml foi realizada por ensaio nefelométrico automatizado (Behring®-Germany nos períodos de 0-7 dias, 1-2 semanas, 2-4 semanas, 1-2 meses, 2-4 meses, 4-6 meses, 6-12 meses, 1-2 anos, 2-3 anos, 3-4 anos e 4-5 anos após o diagnóstico. RESULTADOS: os títulos de ASO na fase aguda da FRA apresentaram elevação significante até o intervalo de 2- 4 meses (p 960 UI/ml. CONCLUSÃO: esta reavaliação do perfil da ASO indicou uma resposta exuberante na fase aguda da febre reumática indicou ainda que os seus níveis séricos podem diferenciá-la de outras afecções que também cursam com níveis elevados de ASO, como as infecções orofaringeanas recorrentes ou as artrites idiopáticas juvenis em atividade.OBJECTIVE: to determine ASO titer profile by establishing ARF differential diagnoses of other diseases with high levels of ASO antibodies. METHODS: we investigated 78 patients with ARF at onset and follow-up, 22 with isolated chorea at onset, 45 with recurrent oropharyngeal tonsillitis, and 23 with recent flare of juvenile idiopathic arthritis. We tested ASO with automated particle-enhanced immunonephelometric assay (Behring®-Germany. The ASO (IU/ml titers were assessed at the following time intervals: 0-7 days, 1-2 weeks, 2-4 weeks, 1-2 months, 2-4 months, 4-6 months, 6-12 months, 1-2 years, 2-3 years, 3-4 years, and 4-5 years after onset of ARF. RESULTS: ASO titers in patients diagnosed with ARF had a significant increase up to the 2-4-month time interval (P < 0.0001. Baseline levels were observed afterwards in patients

  1. Diagnosis and Treatment of Acute Ischemic Stroke Characterized by Hemichorea%以偏侧舞蹈症为主要表现的急性缺血性卒中临床分析

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    宋巧英; 刘卫刚; 李玲; 田瑞振; 董艳红; 吕佩源

    2012-01-01

    目的 探讨以偏侧舞蹈症为主要表现的急性缺血性卒中病因、发病机制、影像学特点和治疗.方法 对23例以偏侧舞蹈症为主要表现的急性缺血性卒中患者的临床表现、实验室检查、影像学检查、治疗及预后进行回顾性分析.结果 合并糖尿病14例;舞蹈症状累及偏侧肢体22例,双侧肢体受累1例;责任病灶多位于偏侧舞蹈症状对侧尾状核、壳核;责任病灶对侧基底核区存在病变者10例;12例给予常规治疗后舞蹈症状好转,11例加用氟哌啶醇后7例症状好转;半年后12例症状消失未再复发.结论 急性缺血性卒中可引起偏侧舞蹈症,糖尿病是引发偏侧舞蹈症的重要危险因素之一;以对侧尾状核、壳核病变所致为主,同侧基底核区病变也可致病;在原发病治疗的基础上应用氟哌啶醇可改善症状.%Objective To investigate the etiology, clinical characteristics, imaging characteristics and treatment of hemichorea caused by acute ischemic stroke. Methods Clinical manifestation, laboratory tests, imaging changes, treatment and prognosis of 23 hemichorea patients caused by acute ischemic stroke were retrospectively analyzed. Results 14 cases were combined with diabetes. 22 cases were hemichorea and 1 case was bilateral chorea. The lesion was mainly in caudate nucleus and puta-men on the opposite side of hemichorea;10 cases had lesion in basal ganglion on the opposite side of hemichorea;chorea of 12 cases relieved after receiving routine treatment, and 7 cases improved after receiving routine treatment combined with haloperi-dol. 6 months later, the symptoms disappeared in the 12 cases without relapse. Conclusion Acute ischemic stroke can cause hemichorea, and diabetes is an important risk factor. Hemichorea is mainly originated from the caudate nucleus and putamen on the opposite side of hemichorea, but basal ganglion in the same side can also lead to the disease. In addition to routine treatment

  2. Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.

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    Fanny Mochel

    Full Text Available Huntington disease (HD is a fatal neurodegenerative disorder, with no effective treatment. The pathogenic mechanisms underlying HD has not been elucidated, but weight loss, associated with chorea and cognitive decline, is a characteristic feature of the disease that is accessible to investigation. We, therefore, performed a multiparametric study exploring body weight and the mechanisms of its loss in 32 presymptomatic carriers and HD patients in the early stages of the disease, compared to 21 controls. We combined this study with a multivariate statistical analysis of plasma components quantified by proton nuclear magnetic resonance ((1H NMR spectroscopy. We report evidence of an early hypermetabolic state in HD. Weight loss was observed in the HD group even in presymptomatic carriers, although their caloric intake was higher than that of controls. Inflammatory processes and primary hormonal dysfunction were excluded. (1H NMR spectroscopy on plasma did, however, distinguish HD patients at different stages of the disease and presymptomatic carriers from controls. This distinction was attributable to low levels of the branched chain amino acids (BCAA, valine, leucine and isoleucine. BCAA levels were correlated with weight loss and, importantly, with disease progression and abnormal triplet repeat expansion size in the HD1 gene. Levels of IGF1, which is regulated by BCAA, were also significantly lower in the HD group. Therefore, early weight loss in HD is associated with a systemic metabolic defect, and BCAA levels may be used as a biomarker, indicative of disease onset and early progression. The decreased plasma levels of BCAA may correspond to a critical need for Krebs cycle energy substrates in the brain that increased metabolism in the periphery is trying to provide.

  3. Chorein Sensitivity of Actin Polymerization, Cell Shape and Mechanical Stiffness of Vascular Endothelial Cells

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    Ioana Alesutan

    2013-09-01

    Full Text Available Background/Aims: Endothelial cell stiffness plays a key role in endothelium-dependent control of vascular tone and arterial blood pressure. Actin polymerization and distribution of microfilaments is essential for mechanical cell stiffness. Chorein, a protein encoded by the VPS13A gene, defective in chorea-acanthocytosis (ChAc, is involved in neuronal cell survival as well as cortical actin polymerization of erythrocytes and blood platelets. Chorein is expressed in a wide variety of further cells, yet nothing is known about the impact of chorein on cells other than neurons, erythrocytes and platelets. The present study explored whether chorein is expressed in human umbilical vein endothelial cells (HUVECs and addressed the putative role of chorein in the regulation of cytoskeletal architecture, stiffness and survival of those cells. Methods: In HUVECs with or without silencing of the VPS13A gene, VPS13A mRNA expression was determined utilizing quantitative RT-PCR, cytoskeletal organization visualized by confocal microscopy, G/F actin ratio and phosphorylation status of focal adhesion kinase quantified by western blotting, cell death determined by flow cytometry, mechanical properties studied by atomic force microscopy (AFM and cell morphology analysed by scanning ion conductance microscopy (SICM. Results: VPS13A mRNA expression was detectable in HUVECs. Silencing of the VPS13A gene attenuated the filamentous actin network, decreased the ratio of soluble G-actin over filamentous F-actin, reduced cell stiffness and changed cell morphology as compared to HUVECs silenced with negative control siRNA. These effects were paralleled by a significant decrease in FAK phosphorylation following VPS13A silencing. Moreover, silencing of the VPS13A gene increased caspase 3 activity and induced necrosis in HUVECs. Conclusions: Chorein is a novel regulator of cytoskeletal architecture, cell shape, mechanical stiffness and survival of vascular endothelial cells.

  4. Immuno-reactive somatostatin in the cerebro-spinal fluid. Immunreaktives Somatostatin im Liquor cerebrospinalis

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    Kohler, J.

    1983-01-01

    In the present work the lumbar cerebro-spinal fluid of 178 patients with different neurological affections was examined with the aid of a specific radioimmunoassay for somatostatin. 18 patients without any pathologic neurological findings served as controls. In degenerative diseases of the brain, reduced somatostatin levels in the cerebro-spinal fluid as compared to the controls were measured. In 3 patients with isolated cerebellar atrophy no reduction of the somatostatin content was found; rather the values were highly normal. Huntington-Chorea also is a case apart. In patients with manifest affections, the somatostatin reduction, amounting to 54.6%, was particularly notable as compared to the controls. By contrast, degenerative diseases with predominant medullary and spastic affection are characterized by significantly increased somatostatin levels. Again, in non-spastic patients the values were not significantly different from those of the controls. Patients with inflammations of the brain and meminges as well as with tumors of the nervous system showed somatostatin levels increased by about 60.8% respectively 51.8% as compared to the controls. Epileptic patients normally exhibit a reduced somatostatin level in the cerebro-spinal fluid, but the reduction is not significant. Disseminated encephalomyclitis, whether chromic or acute, is not found to be associated with significant modifications of the somatostatin level in the cerebro-spinal fluid. Strikingly, however, patients in which the disease took a serious or very serious clinical course showed also the lowest somatostatin levels in the cerebro-spinal fluid. In patients exhibiting the roof compression symptom in consequence of a prolapse of the disk, no significant modifications were found. By contrast, in patients with the symptoms of a transverse lesion, significantly increased somatostatin values were measured.

  5. Human genome and philosophy: what ethical challenge will human genome studies bring to the medical practices in the 21st century?

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    Renzong, Q

    2001-12-01

    A human being or person cannot be reduced to a set of human genes, or human genome. Genetic essentialism is wrong, because as a person the entity should have self-conscious and social interaction capacity which is grown in an interpersonal relationship. Genetic determinism is wrong too, the relationship between a gene and a trait is not a linear model of causation, but rather a non-linear one. Human genome is a complexity system and functions in a complexity system of human body and a complexity of systems of natural/social environment. Genetic determinism also caused the issue of how much responsibility an agent should take for her/his action, and how much degrees of freedom will a human being have. Human genome research caused several conceptual issues. Can we call a gene 'good' or 'bad', 'superior' of 'inferior'? Is a boy who is detected to have the gene of Huntington's chorea or Alzheimer disease a patient? What should the term 'eugenics' mean? What do the terms such as 'gene therapy', 'treatment' and 'enhancement' and 'human cloning' mean etc.? The research of human genome and its application caused and will cause ethical issues. Can human genome research and its application be used for eugenics, or only for the treatment and prevention of diseases? Must the principle of informed consent/choice be insisted in human genome research and its application? How to protecting gene privacy and combating the discrimination on the basis of genes? How to promote the quality between persons, harmony between ethnic groups and peace between countries? How to establish a fair, just, equal and equitable relationship between developing and developed countries in regarding to human genome research and its application? PMID:11803809

  6. Clinical assessment and echocardiography follow-up results of the children with acute rheumatic fever

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    Ahmet Basturk

    2016-04-01

    Full Text Available Acute rheumatic fever (ARF is an inflammatory collagenous tissue disease which shows its cardinal signs in joints, heart, skin and nervous system while affecting whole connective tissue system more or less. This study was conducted in order to investigate the clinical pattern and severity of ARF, echocardiographic findings and the course of the patients with heart valve involvement by studying the clinical and laboratory aspects of the patients diagnosed with ARF according to updated Jones criteria. The study included 214 patients diagnosed with ARF for the first time between January 2005 and May 2008. All patients were scanned with doppler echocardiography (ECHO between certain intervals. Severity of carditis was grouped into 3 groups of mild, moderate and severe. The frequency of carditis was 57.9%, arthritis was 73.4%, chorea was 11.7% and erythema marginatum was 0.9% but no subcutaneous nodules. Recovery was observed in 22% of the cases of isolated aortic insufficiency (AI, 50% of the cases with isolated mitral insufficiency (MI and 80% of the cases with mitral and aortic insufficiencies together (MI+AI. Recovery in isolated MI was significantly much more than recovery in isolated AI. However, recovery in AI was significantly much more than in MI in cases of mitral and aortic insufficiencies together. In conclusion, ARF is a cause of acquired and preventable heart disease and it can be reversed through right diagnosis and appropriate treatment. Isolated mitral insufficiency, isolated aortic insufficiency and both mitral and aortic insufficiency are observed during a valvular disease. Remission among valvular diseases are most commonly in those with mitral insufficiency and remissions in both mitral and aortic insufficiency occur most commonly in aortic ones. Regular prophylaxis is the key element for long term prevention of patients with ARF.

  7. The role of viral agents in aetiopathogenesis of acute rheumatic fever.

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    Olgunturk, Rana; Okur, Ilyas; Cirak, Meltem Y; Oguz, Ayse Deniz; Akalin, Nursel; Turet, Sevgi; Tunaoglu, Sedef

    2011-01-01

    The reason why abnormal immune response exists in acute rheumatic fever is not exactly explained. The influence of co-pathogens like certain viruses were mentioned regarding the initiation of the immunological reaction in acute rheumatic fever patients by several authors since 1970. This study was designed to find the role or effect of some viral infections in the development of rheumatic fever. In this study, 47 cases with acute rheumatic fever (acute rheumatic arthritis, acute rheumatic carditis, and chorea), 20 cases with chronic rheumatic fever, 20 cases with streptococcal pharyngitis, and 20 healthy age- and gender-matched control cases were involved. Serological and molecular tests were made including hepatitis B virus, hepatitis C virus, rubella virus, herpes simplex virus (HSV group 1), and Epstein-Barr virus (EBV). HBsAg, rubella IgM and EBV IgM positivity were not seen in any of patients with rheumatic fever. Although antiHBs seropositivity was higher in the control group, it was not statistically significant (p > 0.05). There was no difference in rubella IgG, HSV IgM seropositivity, either (p > 0.05). EBV DNA was searched by the polymerase chain reaction technique; due to the latent nature of the virus, no significant difference was found between the control group and the other groups (p > 0.05). In this study, no positive correlation could be found to support the synergism theories regarding the streptoccocus infection and viral infections in the development of acute rheumatic fever. Only EBV DNA positivity was found in all acute rheumatic fever cases but not in the control group may lead to further studies with larger series of patients. PMID:20401762

  8. HPRT-deficiency dysregulates cAMP-PKA signaling and phosphodiesterase 10A expression: mechanistic insight and potential target for Lesch-Nyhan Disease?

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    Ghiabe-Henri Guibinga

    Full Text Available Lesch-Nyhan Disease (LND is the result of mutations in the X-linked gene encoding the purine metabolic enzyme, hypoxanthine guanine phosphoribosyl transferase (HPRT. LND gives rise to severe neurological anomalies including mental retardation, dystonia, chorea, pyramidal signs and a compulsive and aggressive behavior to self injure. The neurological phenotype in LND has been shown to reflect aberrant dopaminergic signaling in the basal ganglia, however there are little data correlating the defect in purine metabolism to the neural-related abnormalities. In the present studies, we find that HPRT-deficient neuronal cell lines have reduced CREB (cAMP response element-binding protein expression and intracellular cyclic AMP (cAMP, which correlates with attenuated CREB-dependent transcriptional activity and a reduced phosphorylation of protein kinase A (PKA substrates such as synapsin (p-syn I. Of interest, we found increased expression of phosphodiesterase 10A (PDE10A in HPRT-deficient cell lines and that the PDE10 inhibitor papaverine and PDE10A siRNA restored cAMP/PKA signaling. Furthermore, reconstitution of HPRT expression in mutant cells partly increased cAMP signaling synapsin phosphorylation. In conclusion, our data show that HPRT-deficiency alters cAMP/PKA signaling pathway, which is in part due to the increased of PDE10A expression and activity. These findings suggest a mechanistic insight into the possible causes of LND and highlight PDE10A as a possible therapeutic target for this intractable neurological disease.

  9. Incidence and prevalence of major central nervous system involvement in systemic lupus erythematosus: a 3-year prospective study of 370 patients.

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    Eleni I Kampylafka

    Full Text Available BACKGROUND: The incidence and prevalence of CNS involvement in SLE remains unclear owing to conflicting results in the published studies. The aim of the study was to evaluate the incidence and prevalence of major definite CNS events in SLE patients. METHODS: 370 SLE patients with no previous history of CNS involvement were prospectively evaluated in a tertiary hospital referral center for 3 years. Major CNS manifestations were codified according to ACR definitions, including chorea, aseptic meningitis, psychosis, seizures, myelopathy, demyelinating syndrome, acute confusional state and strokes. Minor CNS events were excluded. ECLAM and SLEDAI-SELENA Modification scores were used to evaluate disease activity and SLICC/ACR Damage Index was used to assess accumulated damage. RESULTS: 16/370 (4.3% patients presented with a total of 23 major CNS events. These included seizures (35%, strokes (26%, myelopathy (22%, optic neuritis (8.7%, aseptic meningitis (4.3% and acute psychosis (4.3%. Incidence was 7.8/100 person years. Among hospitalizations for SLE, 13% were due to CNS manifestations. Epileptic seizures were associated with high disease activity, while myelopathy correlated with lower disease activity and NMO-IgG antibodies (P≤0.05. Stroke incidence correlated with APS coexistence (P = 0.06. Overall, CNS involvement correlated with high ECLAM and SLEDAI scores (P<0.001. CONCLUSIONS: Clinically severe CNS involvement is rare in SLE patients, accounting for 7.8/100 person years. CNS involvement correlates with high disease activity and coexistence of specific features that define the respective CNS syndromes.

  10. Prevalence of neurological disorders in Al Quseir, Egypt: methodological aspects

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    El-Tallawy H

    2013-09-01

    Full Text Available Hamdy El-Tallawy,1 Wafa Farghaly,1 Nabil Metwally,2 Tarek Rageh,1 Ghaydaa A Shehata,1 Reda Badry,1 Esam El Moselhy,2 Mahmoud Hassan,2 Mohamed M Sayed,3 Ahmed A Abdelwarith,1 Y Hamed,2 I Shaaban,2 Talal Mohamed,4 Mohamed Abd El Hamed,1 MR Kandil1 1Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt; 2Department of Neurology and Public Health, Faculty of Medicine, Al-Azhar University (Assiut branch, Assiut, Egypt; 3Department of Neurology, Faculty of Medicine, Sohag University, Sohag, Egypt; 4Department of Neurology, Faculty of Medicine, Qena University, Qena, Egypt Abstract: Methodology and strategy play a very important role in epidemiological studies. Determination of the study area, geographical features, facilities, difficulties, and key personnel from the same area are important factors for successful methodology. Over 31 months (July 1, 2009 to January 31, 2012, a screening and an examination survey were carried out to ascertain the prevalence of epilepsy, stroke, dementia, cerebellar ataxia, migraine, cerebral palsy, Parkinsonism, chorea, athetosis, dystonia, trigeminal neuralgia, Bell's palsy, multiple sclerosis, spinal cord disorders, and attention deficit hyperactivity disorders in Al Quseir, Red Sea Governorate, Egypt. A total of 33,285 people were screened by three neurologists in a door-to-door manner, including every door, using a standardized Arabic questionnaire to detect any subject with a neurological disorder. The methodological aspects of this project were carried out through eight phases: (1 data collection; (2 preparation; (3 screening; (4 case ascertainment; (5 investigations; (6 classifications; (7 data entry; and (8 statistics and tabulations. The results of this study reveal that the total prevalence of neurological disorders in Al Quseir was 4.6% and higher among females (5.2% than males (3.9%. The highest prevalence was recorded in the elderly population (60+ years [8.0%] and among the age

  11. Door-to-door survey of major neurological disorders (project in Al Quseir City, Red Sea Governorate, Egypt

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    El Tallawy HN

    2013-05-01

    Full Text Available Hamdy NA El Tallawy,1 Wafaa MA Farghaly,1 Tarek A Rageh,1 Ghaydaa A Shehata,1 Reda Badry,1 Nabil A Metwally,2 Esam A El Moselhy,2 Mahmoud Hassan,2 Mohamed A Sayed,3 Ahmed A Waris,1 Yaser Hamed,2 Islam Shaaban,2 Mohamed A Hamed,1 Mahmoud Raafat Kandil11Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt; 2Department of Neurology and Public Health, Faculty of Medicine, Al-Azhar University (Assiut branch, Assiut, Egypt; 3Department of Neurology, Faculty of Medicine, Sohag University, Sohag, EgyptAbstract: A door-to-door survey, including every household, was conducted for all inhabitants of Al Quseir City (33,283, Red Sea Governorate, Egypt by three specialists of neurology as well as nine senior staff members of neurology and 15 female social workers to assess the epidemiology of major neurological disorders. Over six phases, from July 1, 2009 to January 31, 2012, screening of all eligible people in the population was carried out, by which case ascertainment of all major neurological disorders included in the study was done according to the accepted definitions and diagnostic criteria of the World Health Organization. The order of frequency of prevalence of the studied neurological disorders was dementia (3.83% for those aged > 60 years, migraine (2.8% for those aged > 8 years, stroke (6.2/1000 for those aged > 20 years, epilepsy (5.5/1000, Parkinson’s disease (452.1/100,000 for those aged > 40 years, cerebral palsy (3.6/1000 among children 37 years, chorea (21.03/100,000, athetosis (15/100,000, and multiple sclerosis (13.74/100,000. The incidence rates of stroke, epilepsy, and Bell’s palsy were 181/100,000, 48/100,000, and 98.9/100,000 per year, respectively.Keywords: prevalence, incidence, neurological disorders

  12. Polycythemia vera presenting with left hemichoreiform movements. A case report

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    Mori, Tamiharu; Shimomura, Chikako; Ishibashi, Hiroshi; Tsujihata, Mitsuhiro; Nagataki, Shigenobu

    1985-01-01

    A 65-year-old man developed abruptly choreiform movements involving the left face, arm and leg one day prior to admission. Physical examination revealed red face and palms, hyperemic conjunctivae and atrial fibrillations. Blood pressure was 168/90. Spleen was not palpable. Hemichoreiform movements of the left face and limbs were observed. There was no other neurological abnormalities. Laboratory studies showed RBC 880 x 10U, Hb 22.4g/dl, Hct 63%, WBC 8,100, platelets 22.9 x 10U, ESR 0mm/hr, RBC oxygen saturation 97%, serum iron 67 g/dl, LDH 593 units, uric acid 14mg/dl, and erythropoietine (HI method) 19mIU/ml (normal 28-88). Bone marrow showed myeloid nucleated cell count 38.6 x 10U. ECG showed atrial fibrillations. Chest X-ray and scintigrams of liver and spleen were normal. CSF was normal. Brain CT scan on admission disclosed a low density area in right caudate nucleus. The choreiform movements were rapidly mitigated by venesection and by oral administration of haloperidol(3mg daily). There weeks after discontinuing haloperidol, the hemichorea returned. The routine hematology showed RBC 870 x 10U, Hb 19.8g/dl, Hct 62%, WBC 10,200, and plateret 37.4 x 10U. Another venesection reduced the chorea. Pipobroman was administered to control the polycythemia vera. He has been free of choreic movements thereafter. Choreiform movement is rarely observed in polycythemia vera. The pathogenesis is still unknown. The venous congestion, however, may play a role in this case because the choreic movements disappeared by venesection. (author).

  13. TYPES OF TREMOR IN PATIENTS WITH CEREBROVASCULAR DISEASES AND CARDIOVASCULAR EVENTS

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    Petrov Igor

    2016-03-01

    Full Text Available Introduction: Tremor can occur as a part of the clinical feature of cerebrovascular diseases. Many patients with cerebral stroke have cardiovascular diseases as a comorbidity or complication of stroke; sometimes cardiovascular events can lead to embolic stroke. Aim: To present types of tremor in patients with cerebrovascular diseases and cardiovascular events and diabetes mellitus type 2, clinical characteristics of tremor and investigations used. Material and methods: In our study we included 36 patients, 24 men and 12 women, that were examined and followed for 3 years, from 2012-2015. All patients were subjected to the following investigations: neurological examination, laboratory analysis, computerized tomography of brain, magnetic resonance imaging and electroencephalography. In cardiovascular patients we also performed Doppler sonography of carotid arteries, electrocardiography, cardiac ultrasound. The patients were examined and treated by cardiologists. Results: Of all patients 22% had cerebral infarction, 41% atherosclerosis, 36% multiple lacunar infarctions and 28% diabetes mellitus type 2. Three patients with cerebral infarction had chorea, hemiballismus, dystonia and dystonic tremor, three had postural tremor and two cerebellar intention tremor. Atherosclerotic patients had atherosclerotic action tremor, while diabetic patients predominantly presented with action-type tremor. Electroencephalography showed irritative basic brain activity with slow waves, while carotid arteries stenosis was diagnosed by Doppler sonography. Computerized tomography of the brain and magnetic resonance imaging revealed cerebrovascular diseases in certain areas. Patients with cardiomyopathy, rhythm disorders, high blood pressure, hyperlipidemia was investigated and medically treated by a cardiologist. Conclusion: In cerebrovascular diseases different types of tremor can occur as the result of the damage of the extrapyramidal system.

  14. A Tale of Two Maladies? Pathogenesis of Depression with and without the Huntington's Disease Gene Mutation.

    Science.gov (United States)

    Du, Xin; Pang, Terence Y C; Hannan, Anthony J

    2013-01-01

    Huntington's disease (HD) is an autosomal dominant disorder caused by a tandem repeat expansion encoding an expanded tract of glutamines in the huntingtin protein. HD is progressive and manifests as psychiatric symptoms (including depression), cognitive deficits (culminating in dementia), and motor abnormalities (including chorea). Having reached the twentieth anniversary of the discovery of the "genetic stutter" which causes HD, we still lack sophisticated insight into why so many HD patients exhibit affective disorders such as depression at very early stages, prior to overt appearance of motor deficits. In this review, we will focus on depression as the major psychiatric manifestation of HD, discuss potential mechanisms of pathogenesis identified from animal models, and compare depression in HD patients with that of the wider gene-negative population. The discovery of depressive-like behaviors as well as cellular and molecular correlates of depression in transgenic HD mice has added strong support to the hypothesis that the HD mutation adds significantly to the genetic load for depression. A key question is whether HD-associated depression differs from that in the general population. Whilst preclinical studies, clinical data, and treatment responses suggest striking similarities, there are also some apparent differences. We discuss various molecular and cellular mechanisms which may contribute to depression in HD, and whether they may generalize to other depressive disorders. The autosomal dominant nature of HD and the existence of models with excellent construct validity provide a unique opportunity to understand the pathogenesis of depression and associated gene-environment interactions. Thus, understanding the pathogenesis of depression in HD may not only facilitate tailored therapeutic approaches for HD sufferers, but may also translate to the clinical depression which devastates the lives of so many people.

  15. THE STUDY OF PREVALENCE AND CLINICAL PROFILE OF VALVULAR HEART DISEASES IN A TEACHING HOSPITAL

    Directory of Open Access Journals (Sweden)

    Radha Krishnan

    2015-04-01

    Full Text Available Valvular heart disease is still a common causes of mortality and morbidity in India and rheumatic heart disease is still far more frequent. AIMS AND OBJECTIVES: To study the prevalence and clinical profile of rheumatic and non - rheumatic valvular heart dise ase in patients attending to Government General Hospital, Kakinada. MATERIALS AND METHODS: 100 Adult patients with valvular abnormalities attending to the Medicine and Cardiology Units of Government General Hospital, Kakinada from Nov 2011 - May 2013 were studied. C linical history including various symptoms, past history of rheumatic fever, followed by systemic examination was done. A detailed cardiovascular examination with relevant investigations and evaluation was done. OBSERVATIONS AND RESULTS: The most common cause of acquired valvular heart disease is Rheumatic Heart Disease. Mitral valve involvement is the most common valve involvement with Mitral regurgitation as the most common valvular lesion. Mitral stenosis is the most common valvular lesion amon g rheumatic valvular heart disease. The most common complaint is breathlessness and the most common complication is Congestive heart failure. Multi valvular lesion is the most common valve involvement in patients presenting with congestive heart failure an d infective endocarditis. Patients having atrial fibrillation are noted to have mitral stenosis more commonly. Mitral stenosis is the valve abnormality commonly noted in patients presenting with haemoptysis, respiratory tract infection and chorea. Left sid ed hemiplegia is common in patients with acquired valvular heart disease. CONCLUSIONS: Though the incidencen of rheumatic valvular disease is decreased in modern era, still continuing in our country. The analysis of the present study gives us insight into the various types of presentation of acquired valvular heart disease and to increase awareness besides early detection of valvular diseases clinically. It also helps in planning of

  16. In vivo evaluation of [{sup 11}C]-3-[2-[(3-methoxyphenylamino)carbonyl]ethenyl]-4,6-dichloroindole- 2-carboxylic acid ([{sup 11}C]3MPICA) as a PET radiotracer for the glycine site of the NMDA ion channel

    Energy Technology Data Exchange (ETDEWEB)

    Waterhouse, Rikki N. E-mail: rnw7@columbia.edu; Sultana, Abida; Laruelle, M

    2002-11-01

    Alterations in normal NMDA receptor composition, densities and function have been implicated in the pathophysiology of certain neurological and neuropsychiatric disorders such as Parkinson's Disease, Huntington's Chorea, schizophrenia, alcoholism and stroke. In our first effort to provide PET ligands for the NMDA/glycine site, we reported the synthesis of a novel high affinity glycine site ligand, 3-[2-[(3-methoxyphenylamino)carbonyl]ethenyl]-4,6-dichloroindole-2 -carboxylic acid ((3MPICA), Ki=4.8{+-}0.9 nM) and the corresponding carbon-11 labeled PET ligand, [{sup 11}C]3MPICA. We report here the in vivo evaluation of [{sup 11}C]3MPICA in rats. Biodistribution analysis revealed that [{sup 11}C]3MPICA exhibited low degree of brain penetration and high blood concentration. The average uptake at two minutes was highest in the cerebellum (0.19{+-}0.04 %ID/g) and thalamus (0.18{+-}0.05 %ID/g) and lower in the hippocampus (0.13{+-}0.03) and frontal cortex (0.11{+-}0.04 %ID/g). The radioactivity cleared quickly from all brain regions examined. Administration of unlabeled 3MPICA (1 mg/kg, i.v.) revealed at 60 minutes a small general reduction in regional brain radioactivity concentrations in treated animals versus controls, however, the blood radioactivity concentration was also lowered, confounding the assessment of the degree of saturable binding. Warfarin co-administration (100 mg/kg, i.v.) significantly lowered blood activity at 5 minutes post-injection (-27%, P<0.01) but failed to significantly increase the brain uptake of the radiotracer. In view of these results, and especially considering the low brain penetration of this tracer, [{sup 11}C]3MPICA does not appear to be a promising PET radiotracer for in vivo use.

  17. Behavioral characterization of mouse models of neuroferritinopathy.

    Directory of Open Access Journals (Sweden)

    Sara Capoccia

    Full Text Available Ferritin is the main intracellular protein of iron storage with a central role in the regulation of iron metabolism and detoxification. Nucleotide insertions in the last exon of the ferritin light chain cause a neurodegenerative disease known as Neuroferritinopathy, characterized by iron deposition in the brain, particularly in the cerebellum, basal ganglia and motor cortex. The disease progresses relentlessly, leading to dystonia, chorea, motor disability and neuropsychiatry features. The characterization of a good animal model is required to compare and contrast specific features with the human disease, in order to gain new insights on the consequences of chronic iron overload on brain function and behavior. To this aim we studied an animal model expressing the pathogenic human FTL mutant 498InsTC under the phosphoglycerate kinase (PGK promoter. Transgenic (Tg mice showed strong accumulation of the mutated protein in the brain, which increased with age, and this was accompanied by brain accumulation of ferritin/iron bodies, the main pathologic hallmark of human neuroferritinopathy. Tg-mice were tested throughout development and aging at 2-, 8- and 18-months for motor coordination and balance (Beam Walking and Footprint tests. The Tg-mice showed a significant decrease in motor coordination at 8 and 18 months of age, with a shorter latency to fall and abnormal gait. Furthermore, one group of aged naïve subjects was challenged with two herbicides (Paraquat and Maneb known to cause oxidative damage. The treatment led to a paradoxical increase in behavioral activation in the transgenic mice, suggestive of altered functioning of the dopaminergic system. Overall, data indicate that mice carrying the pathogenic FTL498InsTC mutation show motor deficits with a developmental profile suggestive of a progressive pathology, as in the human disease. These mice could be a powerful tool to study the neurodegenerative mechanisms leading to the disease and help

  18. Behavioral characterization of mouse models of neuroferritinopathy.

    Science.gov (United States)

    Capoccia, Sara; Maccarinelli, Federica; Buffoli, Barbara; Rodella, Luigi F; Cremona, Ottavio; Arosio, Paolo; Cirulli, Francesca

    2015-01-01

    Ferritin is the main intracellular protein of iron storage with a central role in the regulation of iron metabolism and detoxification. Nucleotide insertions in the last exon of the ferritin light chain cause a neurodegenerative disease known as Neuroferritinopathy, characterized by iron deposition in the brain, particularly in the cerebellum, basal ganglia and motor cortex. The disease progresses relentlessly, leading to dystonia, chorea, motor disability and neuropsychiatry features. The characterization of a good animal model is required to compare and contrast specific features with the human disease, in order to gain new insights on the consequences of chronic iron overload on brain function and behavior. To this aim we studied an animal model expressing the pathogenic human FTL mutant 498InsTC under the phosphoglycerate kinase (PGK) promoter. Transgenic (Tg) mice showed strong accumulation of the mutated protein in the brain, which increased with age, and this was accompanied by brain accumulation of ferritin/iron bodies, the main pathologic hallmark of human neuroferritinopathy. Tg-mice were tested throughout development and aging at 2-, 8- and 18-months for motor coordination and balance (Beam Walking and Footprint tests). The Tg-mice showed a significant decrease in motor coordination at 8 and 18 months of age, with a shorter latency to fall and abnormal gait. Furthermore, one group of aged naïve subjects was challenged with two herbicides (Paraquat and Maneb) known to cause oxidative damage. The treatment led to a paradoxical increase in behavioral activation in the transgenic mice, suggestive of altered functioning of the dopaminergic system. Overall, data indicate that mice carrying the pathogenic FTL498InsTC mutation show motor deficits with a developmental profile suggestive of a progressive pathology, as in the human disease. These mice could be a powerful tool to study the neurodegenerative mechanisms leading to the disease and help developing

  19. Diagnosis of a constitutional five-chromosome rearrangement by fluorescent in situ hybridization (FISH)

    Energy Technology Data Exchange (ETDEWEB)

    Tsien, F.; Shapira, E. [Tulane Univ. School of Medicine, New Orleans, LA (United States); Carvalho, T. [Hospital Sarah Kubitschek, Brasilia (Brazil)] [and others

    1994-09-01

    Complex chromosomal rearrangements are structural rearrangements involving at least three chromosomes and three or more chromosome breakpoints. Such karyotypes are often acquired during cancer multi-step development and in chromosome instability syndromes. However, extremely rare constitutional forms have been reported, most of which are incompatible with life. We present a 2-year-old female with de novo complex rearrangement consisting of five chromosomes and nine breakpoints. Clinical evaluation at two years of age revealed a weight of 5 kg, length of 66 cm, and had circumference of 38 cm, all below the 5th percentile, microcephaly, trigonocephaly, epicanthal folds, inguinal hernia, left clubfoot, hypertonicity, and developmental delay. The neurological examination revealed chorea-acanthocytosis and psychomotor delay. Cultured lymphocytes and fibroblasts revealed a karyotype consisting of five derivative chromosomes. The metaphases were further analyzed by FISH using chromosome-specific libraries and telomeric probes in order to delineate the composition of the rearranged chromosomes; FISH results demonstrated a karyotype of: 46,XX,1pter{r_arrow}1q25::1q42.1{r_arrow}1qter, 2pter{r_arrow}q32.3::1q32.3{r_arrow}2q41::2q37.3{r_arrow}2qter, 7qter{r_arrow}7q21.2::6q22.3{r_arrow}6qter::1q31{r_arrow}1q32.3::6p23{r_arrow}6q22.3, 7pter{r_arrow}7q21.1::6p23{r_arrow}6pter, 2q33{r_arrow}2q37, 1::9p21{r_arrow}9qter. This analysis demonstrates the usefulness of FISH in characterizing complex chromosome rearrangements otherwise difficult to correctly interpret using classical cytogenetics alone.

  20. Somatosensory disinhibition in patients with paroxysmal kinesigenic dyskinesia

    Institute of Scientific and Technical Information of China (English)

    WEI Hua; SUN Ying; CHEN Hai; WANG De-quan; LI Li-ping; DING Yan; LIU Ai-hua; LU Chang-feng; WANG Yu-ping

    2012-01-01

    Background Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent brief episodes of chorea and dystonia induced by sudden movement.Whether the central nervous system is hyper- or hypoexcitable in PKD remains undetermined.The aim of our study was to compare the somatosensory evoked potential (SEP) recovery cycle,a marker of somatosensory system excitability,in PKD patients and controls.Methods Twenty-four PKD patients (mean age of (20.0±5.3) years; 21 males,3 females) and 18 control age-matched subjects (mean age of (22.0±5.0) years; 17 males,1 female) were studied.The stimuli were delivered to the median nerve in the affected dominant arm in patients and in the dominant arm in controls.The change in SEP amplitude was measured after paired electrical stimulation at interstimulus intervals (ISIs) of 5,20,and 40 ms.The SEPs evoked by S2 (test stimulus) were calculated by subtracting the response to S1 (the conditioning stimulus) from the response to a pair of stimuli (S1 + S2),and their amplitudes were compared with those of the control response (S1) at each ISI.Analysis of variance (ANOVA) or equivalent was used for non-parametric data.Results In patients,the P27 amplitude after the single stimulus (S1) was significantly larger than that after the control stimulus.The (S2/S1)x100 ratio for P14 and N30 SEPs did not differ significantly between PKD patients and normal subjects at ISI of 5 ms but were significantly higher in patients at ISIs of 20 and 40 ms (P<0.05).Conclusions Somatosensory system disinhibition takes place in PKD.The finding of reduced suppression of different SEPs,each thought to have a different origin,suggests an abnormality of intracortical and subcortical inhibitory circuits.

  1. Brain MR spectroscopy in children with a history of rheumatic fever with a special emphasis on neuropsychiatric complications

    Energy Technology Data Exchange (ETDEWEB)

    Alkan, Alpay E-mail: aalkan@inonu.edu.tr; Kutlu, Ramazan; Kocak, Gulendam; Sigirci, Ahmet; Emul, Murat; Dogan, Selda; Aslan, Mehmet; Sarac, Kaya; Yakinci, Cengiz

    2004-03-01

    Purpose: To investigate whether there are metabolite changes in basal ganglia of children with complete healing of rheumatic fever (RF), history of Syndenham chorea (SC) and obsessive compulsive-tic disorder (OCTD) developed after RF when compared with healthy controls and each other. Material and methods: A total of 49 children with history of RF and 31 healthy controls were included into the study. All patients and control group underwent a detailed neuropsychiatric evaluation. Children with the history of RF were classified into three groups as; group 1: with history of RF without neuropsychiatric complications (NCRF), group 2: only with history of SC (HSC), group 3: with HSC and OCTD (OCTD). After MR imaging, single voxel MR spectroscopy was performed in all subjects. Voxels (15x15x15 mm) were placed in basal ganglia. N-acetyl aspartate (NAA)/creatin (Cr), and choline (Cho)/Cr ratios were calculated. Results: OCTD were detected in 13 children with HSC. NAA/Cr ratio was found to be decreased in these children when compared with NCRF (n:29), HSC without OCTD (n:7) and control groups (n:31). No significant difference was found in metabolite ratios of children with HSC without OCTD when compared with NCRF and control groups. There were no significant differences in Cho/Cr ratio between patient and control groups. Conclusion: Although MR imaging findings was normal, MR spectroscopy findings (decreased NAA/Cr ratio) in our study support the neuronal loss in basal ganglia of children with OCTD and could indicate the development of permanent damage.

  2. COPASAAR – A database for proteomic analysis of single amino acid repeats

    Directory of Open Access Journals (Sweden)

    Dalby Andrew R

    2005-08-01

    Full Text Available Abstract Background Single amino acid repeats make up a significant proportion in all of the proteomes that have currently been determined. They have been shown to be functionally and medically significant, and are associated with cancers and neuro-degenerative diseases such as Huntington's Chorea, where a poly-glutamine repeat is responsible for causing the disease. The COPASAAR database is a new tool to facilitate the rapid analysis of single amino acid repeats at a proteome level. The database aims to simplify the comparison of repeat distributions between proteomes in order to provide a better understanding of their function and evolution. Results A comparative analysis of all proteomes in the database (currently 244 shows that single amino acid repeats account for about 12–14% of the proteome of any given species. They are more common in eukaryotes (14% than in either archaea or bacteria (both 13%. Individual analyses of proteomes show that long single amino acid repeats (6+ residues are much more common in the Eukaryotes and that longer repeats are usually made up of hydrophilic amino acids such as glutamine, glutamic acid, asparagine, aspartic acid and serine. Conclusion COPASAAR is a useful tool for comparative proteomics that provides rapid access to amino acid repeat data that can be readily data-mined. The COPASAAR database can be queried at the kingdom, proteome or individual protein level. As the amount of available proteome data increases this will be increasingly important in order to automate proteome comparison. The insights gained from these studies will give a better insight into the evolution of protein sequence and function.

  3. CT findings of Wilson's disease

    International Nuclear Information System (INIS)

    Thirteen cases of Wilson's disease were examined by computerized tomography. Two of them were latent cases. The other 11 were typical cases with a Kayser-Fleisher ring and neurological signs, and in which the ceruloplasmin level in serum was low. The caudate heads were measured by Barr's method using two ratios, FH/CC and CC/OT. The CT findings were as follows: (1) caudate head atrophy (10 cases), (2) cerebral atrophy and/or ventricular dilatation (7 cases), (3) symmetrical low density of thalamus (3 cases), (4) symmetrical low density of pallidum (2 cases), (5) low density of midbrain (2 cases), (6) symmetrical low density of putamen (1 case), (7) pons atrophy (1 case), (8) cerebellar atrophy (1 case), (9) low density of r-temporal area (1 case). All of them except for the two latent cases showed some abnormal findings on CT. Only one symptomatic case showed no caudate atrophy one year after the onset, though two other cases already showed marked atrophy after only 10 months. It was stressed that the low-density lesions in the thalamic area were found with a high frequency. There was no correlation between the duration of illness and the degree of caudate atrophy among the patients with Wilson's disease as compared with those with Huntington's chorea. As in a previous study of pneumoencephalography, we failed also to distinguish the two diseases by measuring the ratios on CT films. It may be valuable to study the progression of the CNS lesions of Wilson's disease by using CT repeatedly. (author)

  4. A quickly and easy processing method to make the peripheral blood cell become applicable scanning electron microscope sample%外周血细胞做为扫描电子显微镜标本的快速制备方法

    Institute of Scientific and Technical Information of China (English)

    张艾敬; 曲宝清; 张翠萍; 孙异临; 徐如祥

    2013-01-01

    人外周血细胞形态特征的变化是诊断某些疾病的重要标志.扫描电镜观察血细胞表面的超微形态特点可以为某些疾病的诊断提供重要信息.常规制样方法通过扫描电子显微镜观察舞蹈病红细胞、附红体红细胞等超微结构步骤繁琐,耗时长.本文介绍了外周血细胞做为扫描电子显微镜标本的快速简便制备方法,可做为外周血红细胞病变的一种快速诊断技术.%The features change of human peripheral blood cells is an important symbol for diagnosing some diseases.Blood cell surface Ultrastructure characteristics gained through scanning electron microscope can supply many significant informations about some diseases.In consideration of cockamamie and time-consuming process in common methods to observe the red blood cell ultrastructure characteristic from the Huntington' s chorea and Eperythrozoonosis patients,so we introduce a quickly and easy processing method to make the peripheral blood cell become applicable scanning electron microscope sample in this essay,which is applied to observe the peripheral blood cell pathological changes as a simple and convenient diagnostic techniques.

  5. Alterations of red cell membrane properties in neuroacanthocytosis.

    Directory of Open Access Journals (Sweden)

    Claudia Siegl

    Full Text Available Neuroacanthocytosis (NA refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc, McLeod syndrome (MLS, Huntington's disease-like 2 (HDL2 and pantothenate kinase associated neurodegeneration (PKAN, that mainly affect the basal ganglia and are associated with similar neurological symptoms. PKAN is also assigned to a group of rare neurodegenerative diseases, known as NBIA (neurodegeneration with brain iron accumulation, associated with iron accumulation in the basal ganglia and progressive movement disorder. Acanthocytosis, the occurrence of misshaped erythrocytes with thorny protrusions, is frequently observed in ChAc and MLS patients but less prevalent in PKAN (about 10% and HDL2 patients. The pathological factors that lead to the formation of the acanthocytic red blood cell shape are currently unknown. The aim of this study was to determine whether NA/NBIA acanthocytes differ in their functionality from normal erythrocytes. Several flow-cytometry-based assays were applied to test the physiological responses of the plasma membrane, namely drug-induced endocytosis, phosphatidylserine exposure and calcium uptake upon treatment with lysophosphatidic acid. ChAc red cell samples clearly showed a reduced response in drug-induced endovesiculation, lysophosphatidic acid-induced phosphatidylserine exposure, and calcium uptake. Impaired responses were also observed in acanthocyte-positive NBIA (PKAN red cells but not in patient cells without shape abnormalities. These data suggest an "acanthocytic state" of the red cell where alterations in functional and interdependent membrane properties arise together with an acanthocytic cell shape. Further elucidation of the aberrant molecular mechanisms that cause this acanthocytic state may possibly help to evaluate the pathological pathways leading to neurodegeneration.

  6. A novel process for synthesis of tetrabenazine%丁苯那嗪的绿色合成工艺

    Institute of Scientific and Technical Information of China (English)

    李晓敏; 陈正平; 刘春仪; 唐婕

    2012-01-01

    Tetrabenazine was approved as the first drug to treat chorea associated with Huntington's disease in USA in 2008. A two-step process employing water as reaction medium method was proposed for synthesis of tetrabenazine. The first step in the process was synthesis of 3-dimethylaminomethyl-5-methyl-hexan-2-one from 5-methyl-2-hexanone via Mannich reaction, and the second step was that the intermediate was reacted further with 6, 7-dimethoxy-3, 4-dihydroisoquinoline hydrochloride in water at 90°C catalyzed by triethylbenzylammonium chloride (TEBAC) to give the target compound. The effect of reaction conditions on the yield was investigated. The optimal reaction conditions obtained (temperature, time, molar yield) were as follows: Mannich reaction, reflux for 5 h, 55%; amine exchange, 90°C for 3. 5 h, 68%. The chemical structure of the target product with 98% HPLC purity was characterized by 'H NMR, IR, MS and elemental analyses. The process is of potential value for commercial application because of cheap and available materials, milder conditions, shorter reaction time, simple operations and environmental friendly.%引 言丁苯那嗪(tetrabenazine,商品名Xenazine,Nitoman) (1)是用于治疗亨廷顿舞蹈病(Huntington's disease,HD)的药物,2008年8月经美国食品和药品管理局(FDA)以快速审批资格批准上市,成为首个且唯一的在美国获准用于治疗HD的药物[1-2].

  7. In vivo evaluation of [11C]-3-[2-[(3-methoxyphenylamino)carbonyl]ethenyl]-4,6-dichloroindole- 2-carboxylic acid ([11C]3MPICA) as a PET radiotracer for the glycine site of the NMDA ion channel

    International Nuclear Information System (INIS)

    Alterations in normal NMDA receptor composition, densities and function have been implicated in the pathophysiology of certain neurological and neuropsychiatric disorders such as Parkinson's Disease, Huntington's Chorea, schizophrenia, alcoholism and stroke. In our first effort to provide PET ligands for the NMDA/glycine site, we reported the synthesis of a novel high affinity glycine site ligand, 3-[2-[(3-methoxyphenylamino)carbonyl]ethenyl]-4,6-dichloroindole-2 -carboxylic acid ((3MPICA), Ki=4.8±0.9 nM) and the corresponding carbon-11 labeled PET ligand, [11C]3MPICA. We report here the in vivo evaluation of [11C]3MPICA in rats. Biodistribution analysis revealed that [11C]3MPICA exhibited low degree of brain penetration and high blood concentration. The average uptake at two minutes was highest in the cerebellum (0.19±0.04 %ID/g) and thalamus (0.18±0.05 %ID/g) and lower in the hippocampus (0.13±0.03) and frontal cortex (0.11±0.04 %ID/g). The radioactivity cleared quickly from all brain regions examined. Administration of unlabeled 3MPICA (1 mg/kg, i.v.) revealed at 60 minutes a small general reduction in regional brain radioactivity concentrations in treated animals versus controls, however, the blood radioactivity concentration was also lowered, confounding the assessment of the degree of saturable binding. Warfarin co-administration (100 mg/kg, i.v.) significantly lowered blood activity at 5 minutes post-injection (-27%, P11C]3MPICA does not appear to be a promising PET radiotracer for in vivo use

  8. Decreased glycogen synthase kinase-3 levels and activity contribute to Huntington's disease.

    Science.gov (United States)

    Fernández-Nogales, Marta; Hernández, Félix; Miguez, Andrés; Alberch, Jordi; Ginés, Silvia; Pérez-Navarro, Esther; Lucas, José J

    2015-09-01

    Huntington's disease (HD) is a hereditary neurodegenerative disorder characterized by brain atrophy particularly in striatum leading to personality changes, chorea and dementia. Glycogen synthase kinase-3 (GSK-3) is a serine/threonine kinase in the crossroad of many signaling pathways that is highly pleiotropic as it phosphorylates more than hundred substrates including structural, metabolic, and signaling proteins. Increased GSK-3 activity is believed to contribute to the pathogenesis of neurodegenerative diseases like Alzheimer's disease and GSK-3 inhibitors have been postulated as therapeutic agents for neurodegeneration. Regarding HD, GSK-3 inhibitors have shown beneficial effects in cell and invertebrate animal models but no evident efficacy in mouse models. Intriguingly, those studies were performed without interrogating GSK-3 level and activity in HD brain. Here we aim to explore the level and also the enzymatic activity of GSK-3 in the striatum and other less affected brain regions of HD patients and of the R6/1 mouse model to then elucidate the possible contribution of its alteration to HD pathogenesis by genetic manipulation in mice. We report a dramatic decrease in GSK-3 levels and activity in striatum and cortex of HD patients with similar results in the mouse model. Correction of the GSK-3 deficit in HD mice, by combining with transgenic mice with conditional GSK-3 expression, resulted in amelioration of their brain atrophy and behavioral motor and learning deficits. Thus, our results demonstrate that decreased brain GSK-3 contributes to HD neurological phenotype and open new therapeutic opportunities based on increasing GSK-3 activity or attenuating the harmful consequences of its decrease. PMID:26082469

  9. Profile of pridopidine and its potential in the treatment of Huntington disease: the evidence to date.

    Science.gov (United States)

    Squitieri, Ferdinando; de Yebenes, Justo Garcia

    2015-01-01

    Huntington disease (HD) is a chronic, genetic, neurodegenerative disease for which there is no cure. The main symptoms of HD are abnormal involuntary movements (chorea and dystonia), impaired voluntary movements (ie, incoordination and gait balance), progressive cognitive decline, and psychiatric disturbances. HD is caused by a CAG-repeat expanded mutation in the HTT gene, which encodes the huntingtin protein. The inherited mutation results in the production of an elongated polyQ mutant huntingtin protein (mHtt). The cellular functions of the Htt protein are not yet fully understood, but the functions of its mutant variant are thought to include alteration of gene transcription and energy production, and dysregulation of neurotransmitter metabolism, receptors, and growth factors. The phenylpiperidines pridopidine (4-[3-methanesulfonyl-phenyl]-1-propyl-piperidine; formerly known as ACR16) and OSU6162 ([S]-[-]-3-[3-methane [sulfonyl-phenyl]-1-propyl-piperidine) are members of a new class of pharmacologic agents known as "dopamine stabilizers". Recent clinical trials have highlighted the potential of pridopidine for symptomatic treatment of patients with HD. More recently, the analysis of HD models (ie, in vitro and in mice) highlighted previously unknown effects of pridopidine (increase in brain-derived neurotrophic factor, reduction in mHtt levels, and σ-1 receptor binding and modulation). These additional functions of pridopidine suggest it might be a neuroprotective and disease-modifying drug. Data from ongoing clinical trials of pridopidine will help define its place in the treatment of HD. This commentary examines the available preclinical and clinical evidence regarding the use of pridopidine in HD.

  10. A tale of two maladies? Pathogenesis of depression with and without the Huntington’s disease gene mutation

    Directory of Open Access Journals (Sweden)

    Xin eDu

    2013-07-01

    Full Text Available Huntington’s disease (HD is an autosomal dominant disorder caused by a tandem repeat expansion encoding an expanded tract of glutamines in the huntingtin protein. HD is progressive and manifests as psychiatric symptoms (including depression, cognitive deficits (culminating in dementia and motor abnormalities (including chorea. Having reached the 20th anniversary of the discovery of the ‘genetic stutter’ which causes HD, we still lack sophisticated insight into why so many HD patients exhibit affective disorders such as depression at very early stages, prior to overt appearance of motor deficits. In this review, we will focus on depression as the major psychiatric manifestation of HD, discuss potential mechanisms of pathogenesis identified from animal models, and compare depression in HD patients with that of the wider gene-negative population. The discovery of depressive-like behaviours as well as cellular and molecular correlates of depression in transgenic HD mice has added strong support to the hypothesis that the HD mutation adds significantly to the genetic load for depression. A key question is whether HD-associated depression differs from that in the general population. Whilst preclinical studies, clinical data and treatment responses suggest striking similarities, there are also some apparent differences. We discuss various molecular and cellular mechanisms which may contribute to depression in HD, and whether they may generalise to other depressive disorders. The autosomal dominant nature of HD and the existence of models with excellent construct validity provide a unique opportunity to understand the pathogenesis of depression and associated gene-environment interactions. Thus, understanding the pathogenesis of depression in HD may not only facilitate tailored therapeutic approaches for HD sufferers, but may also translate to the clinical depression which devastates the lives of so many people.

  11. Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

    Science.gov (United States)

    Srour, Myriam; Caron, Véronique; Pearson, Toni; Nielsen, Sarah B; Lévesque, Sébastien; Delrue, Marie-Ange; Becker, Troy A; Hamdan, Fadi F; Kibar, Zoha; Sattler, Shannon G; Schneider, Michael C; Bitoun, Pierre; Chassaing, Nicolas; Rosenfeld, Jill A; Xia, Fan; Desai, Sonal; Roeder, Elizabeth; Kimonis, Virginia; Schneider, Adele; Littlejohn, Rebecca Okashah; Douzgou, Sofia; Tremblay, André; Michaud, Jacques L

    2016-08-01

    Retinoic acid (RA) signaling plays a key role in the development and function of several systems in mammals. We previously discovered that the de novo mutations c.1159C>T (p.Arg387Cys) and c.1159C>A (p.Arg387Ser) in the RA Receptor Beta (RARB) gene cause microphthalmia and diaphragmatic hernia. However, the natural history of affected subjects beyond the prenatal or neonatal period was unknown. Here, we describe nine additional subjects with microphthalmia who have de novo mutations in RARB, including the previously described p.Arg387Cys as well as the novel c.887G>C (p.Gly296Ala) and c.638T>C (p.Leu213Pro). Moreover, we review the information on four previously reported cases. All subjects who survived the neonatal period (n = 10) displayed severe global developmental delay with progressive motor impairment due to spasticity and/or dystonia (with or without chorea). The majority of subjects also showed Chiari type I malformation and severe feeding difficulties. We previously found that p.Arg387Cys and p.Arg387Ser induce a gain-of-function. We show here that the p.Gly296Ala and p.Leu213Pro RARB mutations further promote the RA ligand-induced transcriptional activity by twofold to threefold over the wild-type receptor, also indicating a gain-of-function mechanism. These observations suggest that precise regulation of RA signaling is required for brain development and/or function in humans. PMID:27120018

  12. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI

    Energy Technology Data Exchange (ETDEWEB)

    Leiros da Costa, Maria do Desterro [Federal University of Paraiba, Movement Disorders Unit, Paraiba (Brazil); Spitz, Mariana; Bacheschi, Luiz Alberto; Barbosa, Egberto Reis [University of Sao Paulo, Movement Disorders Unit, Sao Paulo (Brazil); Leite, Claudia Costa; Lucato, Leandro Tavares [University of Sao Paulo, Department of Radiology, Sao Paulo (Brazil)

    2009-10-15

    Brain magnetic resonance imaging (MRI) studies on Wilson's disease (WD) show lack of correlations between neurological and neuroimaging features. Long-term follow-up reports with sequential brain MRI in patients with neurological WD comparing different modalities of treatment are scarce. Eighteen patients with neurological WD underwent pretreatment and posttreatment brain MRI scans to evaluate the range of abnormalities and the evolution along these different periods. All patients underwent at least two MRI scans at different intervals, up to 11 years after the beginning of treatment. MRI findings were correlated with clinical picture, clinical severity, duration of neurological symptoms, and treatment with two different drugs. Patients were divided into two groups according to treatment: d-penicillamine (D-P), zinc (Zn), and Zn after the onset of severe intolerance to D-P. MRI scans before treatment showed, in all patients, hypersignal intensity lesions on T2- and proton-density-weighted images bilaterally and symmetrically at basal nuclei, thalamus, brain stem, cerebellum, brain cortex, and brain white matter. The most common neurological symptoms were: dysarthria, parkinsonism, dystonia, tremor, psychiatric disturbances, dysphagia, risus sardonicus, ataxia, chorea, and athetosis. From the neurological point of view, there was no difference on the evolution between the group treated exclusively with D-P and the one treated with Zn. Analysis of MRI scans with longer intervals after the beginning of treatment depicted a trend for neuroimaging worsening, without neurological correspondence, among patients treated with Zn. Neuroimaging pattern of evolution was more favorable for the group that received exclusively D-P. (orig.)

  13. A Tale of Two Maladies? Pathogenesis of Depression with and without the Huntington's Disease Gene Mutation.

    Science.gov (United States)

    Du, Xin; Pang, Terence Y C; Hannan, Anthony J

    2013-01-01

    Huntington's disease (HD) is an autosomal dominant disorder caused by a tandem repeat expansion encoding an expanded tract of glutamines in the huntingtin protein. HD is progressive and manifests as psychiatric symptoms (including depression), cognitive deficits (culminating in dementia), and motor abnormalities (including chorea). Having reached the twentieth anniversary of the discovery of the "genetic stutter" which causes HD, we still lack sophisticated insight into why so many HD patients exhibit affective disorders such as depression at very early stages, prior to overt appearance of motor deficits. In this review, we will focus on depression as the major psychiatric manifestation of HD, discuss potential mechanisms of pathogenesis identified from animal models, and compare depression in HD patients with that of the wider gene-negative population. The discovery of depressive-like behaviors as well as cellular and molecular correlates of depression in transgenic HD mice has added strong support to the hypothesis that the HD mutation adds significantly to the genetic load for depression. A key question is whether HD-associated depression differs from that in the general population. Whilst preclinical studies, clinical data, and treatment responses suggest striking similarities, there are also some apparent differences. We discuss various molecular and cellular mechanisms which may contribute to depression in HD, and whether they may generalize to other depressive disorders. The autosomal dominant nature of HD and the existence of models with excellent construct validity provide a unique opportunity to understand the pathogenesis of depression and associated gene-environment interactions. Thus, understanding the pathogenesis of depression in HD may not only facilitate tailored therapeutic approaches for HD sufferers, but may also translate to the clinical depression which devastates the lives of so many people. PMID:23847583

  14. Fahr’s disease: a case series

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    Osama Shukir Muhammed Amin

    2013-08-01

    Full Text Available Fahr’s disease is a rare idiopathic bilateral and symmetrical calcification of the basal ganglia, thalami, subcortical hemispheric white matter, and deep cerebellar nuclei that usually presents between the 4nd and 6th decade of life with a variable combination of involuntary movements, Parkinsonism, presenile subcortical dementia, seizures, and ataxia. This longitudinal observational case series was conducted at the neurology outpatients’ department of Sulaimaniya general teaching hospital, Iraq. Three patients were diagnosed with Fahr’s disease. Their chief presenting complaint and other coexistent clinical features were noted and followed-up for at least one year. The ages of those consecutive patients were 25, 34, and 21 years, respectively. Two were females and the other patient was a male. The chief presenting complaint among the 3 patients was heterogeneous; cognitive impairment, seizures, and chorea, respectively. At the time of diagnosis, Parkinsonism and cognitive decline were present in all patients. The 3 patients never developed dystonia, dyskinesia, or athetosis and one patient only had mild cerebellar ataxia. Seizures were the presenting feature in one patient and they never developed in the other 2 patients. All patients had a variable degree of intracerebral calcification. Fahr’s disease has heterogeneous phenotypes and the brain radiological findings do not predict the clinical presentation and course. Although Parkinsonism was not the presenting feature, it was found in all patients at the time of diagnosis. Involuntary movements and cerebellar dysfunction were uncommon and the cognitive impairment was of the frontal lobe subcortical dysfunction. [Cukurova Med J 2013; 38(4.000: 823-831

  15. [Images of gender and gender-specific therapies in German homoeopathic and naturopathic guidebooks (c. 1870-1930)].

    Science.gov (United States)

    Weigl, Andreas

    2011-01-01

    In the second half of the nineteenth and early twentieth century sex and gender became crucial categories not only in the medical discourse of German speaking countries. At the very centre of this discourse was the idea of women as the weaker sex. Because of the paradigm shift in the history of medicine (due to the discovery of the cytopathology) the principle of a weaker sex seemed to be corroborated by scientific research, a fact which impacted on medical practice in many ways. "Nervous" disease evolved as the major threat "of our times," with urban girls, young women and "weak" young men being most at risk. At the same time homoeopaths and naturopaths challenged modern medicine, offering alternative health practices, cures and drugs for people who could not afford the help of physicians or distrusted them. An analysis of several alternative medical guidebooks printed between c. 1870 and 1930 showed that homoeopaths and naturopaths shared the "sexualization" of medical discourse and practice only to an extent. On the one hand they believed that disorders such as hysteria, masturbation, chorea Sydenham and anaemia were nervous in nature and that the chances of curing them were poor. With the exception of masturbation these "deadly" threats were considered to be typically female. The general approach of alternative physicians, on the other hand, was unisex. The cures they offered to the public used unisex scales of constitutional characters. They even ignored the gender specificity of sick headaches. Gender-specific problems such as difficult deliveries and childbed fever were treated as "natural" and mild cures were favoured. The conclusion is that the influences of upper and middle class discourse on common health practices should not be overestimated. PMID:22701956

  16. Clinical and genetic study of a juvenile-onset Huntington disease%少年型亨廷顿病临床与基因突变分析

    Institute of Scientific and Technical Information of China (English)

    郝莹; 陈园园; 顾卫红; 王国相; 马惠姿; 李丽林; 王康; 金淼; 段晓慧

    2012-01-01

    Background Huntington's disease (HD) is an autosomal dominant hereditary progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dementia, cognitive and affective impairment. There are selective neural cell loss and atrophy in the caudate and putamen. Dr. George Huntington firstly described the disease accurately and insightfully, which led to a widespread recognition of the inherited chorea that now bears his name. Huntington disease gene (1T15) locus on chromosome 4p16.3, and encompasses 67 exons with a trinucleotide repeat (CAG) in the first exon.The CAG repeat length is highly polymorphic in the population and expanded on at least one chromosome of individuals with HD. Clinically, patient with HD are often onset in adulthood. Juvenile - onset HD is relatively rare. Adult-onset HD patients usually have a CAG expansion from 40 to 55 whereas those with juvenile - onset greater than 60 which are often inherited from the father. We investigated the clinical features of a juvenile-onset case with Huntington disease and dynamic mutation of his family. Methods The CAG repeats of 1T15 gene were detected using polymerase chain reaction and capillary electrophoresis in 115 individuals with preliminary diagnosis as Huntington disease. The repeat numbers of some samples carried expanded or intermediate alleles were verified by the pMD18-T vector clone sequencing. Results Fragment analysis showed that one juvenile - onset case presenting with cognitive dysfunction and hypokinesis carried 15/68 CAG repeats of 1T15. His father carried 17/37 and mother carried 15/17. Conclusion 1) The juvenile-onset case of HD presented with different clinical features compared with adult-onset cases. The typical signs of adult-onset cases include progressive chorea, rigidity and dementia. The most common sign of juvenile-onset Huntington disease is cognitive decline. 2) The dynamic mutation of IT15 gene expansion of the CAG repeats in the intergenerational

  17. The analysis of clinical features and misdiagnosis in 5 patients with hepatolenticular degeneration%58例肝豆状核变性所致神经精神障碍的临床特点与误诊分析

    Institute of Scientific and Technical Information of China (English)

    葛许华; 王苗; 邵丽

    2013-01-01

    目的 总结肝豆状核变性(HLD)所致神经精神障碍的临床特点及误诊情况,以提高对本病的认识.方法 回顾分析58例HLD病历资料的神经精神障碍的临床特征和误诊原因.结果 共误诊41例,误诊率达70.69%.从发病到确诊时间3w~8y,平均时间12.5m.多误诊为帕金森病、舞蹈病、精神分裂症、先天痴呆及甲状腺功能亢进症等.结论 HLD患者早期临床表现差异较大,临床症状、体征复杂多样,易造成漏诊和误诊.临床医生应思路开阔、提高对本病的认识,注重病史采集及体格检查,才能减少误诊.%Objective To summarize the clinical characteristics and misdiagnosis of nerve disorder caused by hepatolenticular degeneration(HLD) in order to improve the understanding of the disease.Methods 58 cases of HLD were retrospectively analyzed,including the clinical features and misdiagnosis reasons of nerve disorder.Results 41 cases were misdiagnosed,the rate was 70.69%.The diagnose course was 3 weeks to 8 years,with average time of 12.5 months.It was usually misdiagnosed as Parkinson's disease,chorea,schizophrenia,congenital dementia and hyperthyroidism.Conclusion The difference of early clinical minifestation in HLD patients is bigger,clinical symptoms and signs are complicated.This disease is easy to be misdiagnosed.Clinical doctors should be open-minded,improve understanding,pay attention to history collection and physical examination in order to reduce the misdiagnosis.

  18. [Do the glutamate excitotoxicity theory and potential free radicals implication in schizophrenia aetiopathogenesis provide a new enlightenment to links between: genome, environment and biology in the determinism of that disorder?].

    Science.gov (United States)

    Nguimfack Mbodie, P C

    2002-01-01

    radicals a noxious effect on neuronal synapses. This could be due to a failing of their recapture at the presynaptic level in addition to a dysfunctioning of the antioxidizing system (glutathion, carnosine, superoxide dismutase, aspartate) to which dopamine and other monoamines might participate. The question is whether or not this theory contributes to shed light on links between: genome, environmental factors and biology in schizophrenia. Through the review and discussion of genetical aspects of schizophrenia, environmental factors and the biological aspect, we intend to revive debate on that question. The articles and authors were selected with regard to the aptness of their publications on that subject, their evolving ideas and finally the interest of their works for neurosciences. This new approach perhaps is opening the way to new therapeutic perspectives in the treatment of schizophrenia based on the antioxidizing substances as shown for some neurological diseases (amyotrophic lateral sclerosis, Parkinson's disease and Huntington's chorea) for which experiments are going on. PMID:11972141

  19. [Nowe Miasto on the Pilica rier--the first XIXth Physiotherapeutic Institution in Polish Kingdom].

    Science.gov (United States)

    Kozera, Justyna Małgorzata

    2005-01-01

    The first nineteenth- century clinic of natural medicine in Poland was founded in 1874 in Nowe Miasto on the Pilica. The founder was Doctor Jan Kapistran Bieliński. The clinic being located by the riverside was fed with 5 springs of cold water and was surrounded by a big park. In the clinic following treatments were provided: hydrotherapy (a hot, cool, steam, salt, gas, aromatic bath, showers) kinesthesiotherapy (treatment by motion, gymnastics), electrotherapy (static electricity, electric bathing), massage and dietary and pharmacological treatment. In Nowe Miasto diseases of the nervous system (spinal neurasthenia, epilepsy, chorea, nervous palsy) were treated as well as of the vascular system (haemorrhage, anaemia, cardiovascular disorder), the respiratory system (bronchitis, pneumoitis, asthma), the digestive system (catarrh and ulceration of stomach and intestines), the sexual system (disorders of menstruation, infertility), urinary tracts (the atonia of bladder, albuminuria, glycosuria) and others (rheumatism, obesity, deafness, convalescence). The clinic had a good reputation and was still being extended. In 1896 it consisted of 26 buildings which housed 150 guest rooms. A very modern medicine department "Marylin" rated the clinic of Nowe Miasto among the top European clinics. The Bieliński's clinic employed following staff: 5 doctors, 2 paramedics, 10 male baths attendants (male nurses who worked in baths), 7 female baths attendants and between ten and twenty support staff. The clinic was open the whole year treating about 400 persons yearly. The patients came from the whole area of Congress Kingdom of Poland as well as from cities abroad: Moscow, St Petersburg, Smolensk, Cracow, London or New York. The majority of patients came from Lódź and Warsaw. The Doctor J.K. Bielinski's clinic was a cultural centre, too. In their spare time the clients of the clinic were offered trips, balls, lectures, stage performances, concerts and painting exhibitions. I

  20. Editing for an AMPA receptor subunit RNA in prefrontal cortex and striatum in Alzheimer's disease, Huntington's disease and schizophrenia

    Science.gov (United States)

    Akbarian, S.; Smith, M. A.; Jones, E. G.; Bloom, F. E. (Principal Investigator)

    1995-01-01

    Animal studies and cell culture experiments demonstrated that posttranscriptional editing of the transcript of the GluR-2 gene, resulting in substitution of an arginine for glutamine in the second transmembrane region (TM II) of the expressed protein, is associated with a reduction in Ca2+ permeability of the receptor channel. Thus, disturbances in GluR-2 RNA editing with alteration of intracellular Ca2+ homeostasis could lead to neuronal dysfunction and even neuronal degeneration. The present study determined the proportions of edited and unedited GluR-2 RNA in the prefrontal cortex of brains from patients with Alzheimer's disease, in the striatum of brains from patients with Huntington's disease, and in the same areas of brains from age-matched schizophrenics and controls, by using reverse transcriptase-polymerase chain reaction, restriction endonuclease digestion, gel electrophoresis and scintillation radiometry. In the prefrontal cortex of controls, 99.9% were edited; in the prefrontal cortex both of schizophrenics and of Alzheimer's patients approximately 1.0% of all GluR-2 RNA molecules were unedited and 99% were edited. In the striatum of controls and of schizophrenics, approximately 0.5% of GluR-2 RNA molecules were unedited and 99.5% were edited; in the striatum of Huntington's patients nearly 5.0% of GluR-2 RNA was unedited. In the prefrontal white matter of controls, approximately 7.0% of GluR-2 RNA was unedited. In the normal human prefrontal cortex and striatum, the large majority of GluR-2 RNA molecules contains a CGG codon for arginine in the TMII coding region; this implies that the corresponding AMPA receptors have a low Ca2+ permeability, as previously demonstrated for the rat brain. The process of GluR-2 RNA editing is compromised in a region-specific manner in schizophrenia, in Alzheimer's disease and Huntington's Chorea although in each of these disorders there is still a large excess of edited GluR-2 RNA molecules. Disturbances of GluR-2 RNA

  1. Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS): An Evolving Concept.

    Science.gov (United States)

    Macerollo, Antonella; Martino, Davide

    2013-01-01

    Pediatric autoimmune neuropsychiatric disorders associated with streptococcus infections (PANDAS) originated from the observational work of Swedo and collaborators, who formalized their definition in 1998 in a set of operational criteria. The application of these criteria, which focuses on tics and obsessive-compulsive symptoms as core symptoms, has encountered difficulties, eventually leading to a high rate of misdiagnosis. In particular, the core feature represented by the association between newly diagnosed infections and neuropsychiatric symptom relapses in youths with this diagnosis could not be demonstrated by longitudinal studies. Exploratory studies aiming to identify clinical or cognitive features that could discriminate PANDAS from other pediatric obsessive-compulsive and tic disorders present methodological limitations, and therefore are not conclusive. Other behavioral features, in addition to obsessive-compulsive symptoms and tics, have been included in pediatric acute-onset neuropsychiatric syndromes (PANS) and childhood acute neuropsychiatric syndromes (CANS), two new concepts recently proposed in order to define a much broader clinical spectrum encompassing etiologically diverse entities. Given the uncertainties on the clinical definition of PANDAS, it is not surprising that evidence in support of a post-infectious, immune-mediated pathophysiology is also insufficient. Anti-dopamine receptor antibodies might be relevant to both Sydenham's chorea (SC)-the prototypical post-streptococcal neuropsychiatric disorder-and some rare forms of encephalitis targeting the basal ganglia specifically, but studies exploring their association with children fulfilling Swedo's criteria for PANDAS have been inconclusive. Moreover, we lack evidence in favor of the efficacy of antibiotic prophylaxis or tonsillectomy in patients fulfilling Swedo's criteria for PANDAS, whereas a response to immune-mediated treatments like intravenous immunoglobulins has been documented by

  2. Delusional parasitosis with hyperthyroidism in an elderly woman: a case report

    Directory of Open Access Journals (Sweden)

    Ozten Eylem

    2013-01-01

    Full Text Available Abstract Introduction Delusional parasitosis is a rare, monosymptomatic psychosis involving a delusion of being infested with parasites. It is commonly observed among female patients over the age of 50. It is classified as a ‘delusional disorder’ according to the 10th revision of the International Classification of Diseases and as a ‘delusional disorder - somatic type’ according to the Diagnostic and Statistical Manual, Fourth Edition. Delusional parasitosis was reported to be associated with physical disorders such as hypoparathyroidism, Huntington’s chorea and Alzheimer’s disease, among others. Other than vitamin deficiencies however, a causal relationship has not to date been identified. We present this case due to the rarity of Turkish patients with this condition, its duration of follow-up, and its temporal pattern of symptoms paralleling thyroid function tests. Case presentation Our patient was a 70-year-old white Anatolian Turkish woman with primary school education who had been living alone for the past five years. She presented to our psychiatry department complaining of ‘feeling large worms moving in her body’. The complaints started after she was diagnosed with hyperthyroidism, increased when she did not use her thyroid medications and remitted when she was compliant with treatment. She was treated with pimozide 2mg/day for 20 months and followed-up without any antipsychotic treatment for an additional nine months. At her last examination, she was euthyroid, not receiving antipsychotics and was not having any delusions. Conclusion Although endocrine disorders, including hyperthyroidism, are listed among the etiological factors contributing to secondary delusional parasitosis, as far as we are aware this is the first case demonstrating a temporal pattern of thyroid hyperfunction and delusions through a protracted period of follow-up. It may be that the treatment of delusional parasitosis depends on clarifying the

  3. Delusional parasitosis and the dopamine transporter. A new insight of etiology?

    Science.gov (United States)

    Huber, M; Kirchler, E; Karner, M; Pycha, R

    2007-01-01

    Delusional parasitosis (DP) is a psychotic condition in which a person has the unshakeable and mistaken belief (delusion) and/or aberrant perception (hallucination) of being infested with parasites. The disorder will be usually classified in a primary DP-group without a detectable cause (so-called pure forms), while secondary DP-groups are associated with general organic conditions, psychiatric illnesses and drugs (substance induced). Etiology and pathophysiology of DP remain however unknown. In the present paper we hypothesize for the first time a decreased striatal dopamine transporter (DAT)-functioning (corresponding with an increased extracellular dopamine-level) as etiologic condition for DP (primary and secondary groups). The DAT as key regulator of the dopamine-reuptake in the human brain is well known (regulation of the extracellular dopamine concentration). It is a presynaptic plasma membrane protein highly dense represented in the striatum. The hypothesis of a decreased DAT-functioning as etiologic condition by DP is revealed in case reports which show that DAT-inhibitors, such as cocaine, pemoline, methylphenidate and other amphetamine-derivatives can induce the clinical expression of DP. Several other associated causes of secondary DP-groups (medications, parkinson, chorea huntington, multiple system atrophy, diabetes, cerebrovascular diseases, alcoholism, traumatic brain injury, hyperuricemia, human immunodeficiency virus, iron deficiency, schizophrenia, depression) suggest that the clinical expression of DP may be related to a decreased striatal DAT-functioning (blocking, reduced ligand binding, reduced density, reduced activity). Our examined DP-cases (2-females) show means of magnetic resonance imaging a structurally damaged striatum. Furthermore, we presume that by the primary DP-group, the physiologically age-related decline of the DAT-density is pathologically elevated. Based on this hypothesis we show in the present paper the relation between DP

  4. NEUROLOGIC MANIFESTATION OF ORGANIC ACADEMIA

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    Seyyed Hassan TONEKABONI

    2012-03-01

    .Sometimes these episodes can lead to death or severe sequel. Seizure disorder is one of these sequels which is generalized in type with myoclonic seizure in infancy and childhood and later tonic-clonic and atypical absence seizures predominate.Also many of the survivors have acute or progressive extra pyramidal syndrome due to bilateral necrosis of basal ganglia.Chronic progressive formsNon specific Developmental delay, hypotonia, muscular weakness, microcephaly and seizures are rarely the only revealing signs in organic acidemia without any acute presentation.Seizures may become refractory to Anti Epileptic Drugs. In addition many asymptomatic or minimally symptomatic infants have been identified during tandem mass spectrometry newborn screening program. Cognitive deterioration associated with movement disorder such as dystonia or chorea may be caused by any form of organic aciduria.

  5. Xyloketal-derived small molecules show protective effect by decreasing mutant Huntingtin protein aggregates in Caenorhabditis elegans model of Huntington’s disease

    Directory of Open Access Journals (Sweden)

    Zeng YX

    2016-04-01

    Full Text Available Yixuan Zeng,1,2,* Wenyuan Guo,1,* Guangqing Xu,3 Qinmei Wang,4 Luyang Feng,1,2 Simei Long,1 Fengyin Liang,1 Yi Huang,1 Xilin Lu,1 Shichang Li,5 Jiebin Zhou,5 Jean-Marc Burgunder,6 Jiyan Pang,5 Zhong Pei1,2 1Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, Guangdong Key Laboratory for Diagnosis and Treatment of Major Neurological Disease, The First Affiliated Hospital, Sun Yat-sen University, 2Guangzhou Center, Chinese Huntington’s Disease Network, 3Department of Rehabilitation, The First Affiliated Hospital, 4Key laboratory on Assisted Circulation, Ministry of Health, Department of Cardiovascular Medicine of the First Affiliated Hospital, 5School of Chemistry and Chemical Engineering, Sun Yat-sen University, Guangzhou, Guangdong, People’s Republic of China; 6Swiss Huntington’s Disease Center, Department of Neurology, University of Bern, Bern, Switzerland *These authors contributed equally to this work Abstract: Huntington’s disease is an autosomal-dominant neurodegenerative disorder, with chorea as the most prominent manifestation. The disease is caused by abnormal expansion of CAG codon repeats in the IT15 gene, which leads to the expression of a glutamine-rich protein named mutant Huntingtin (Htt. Because of its devastating disease burden and lack of valid treatment, development of more effective therapeutics for Huntington’s disease is urgently required. Xyloketal B, a natural product from mangrove fungus, has shown protective effects against toxicity in other neurodegenerative disease models such as Parkinson’s and Alzheimer’s diseases. To identify potential neuroprotective molecules for Huntington’s disease, six derivatives of xyloketal B were screened in a Caenorhabditis elegans Huntington’s disease model; all six compounds showed a protective effect. Molecular docking studies indicated that compound 1 could bind to residues GLN369 and GLN393 of the mutant Htt protein, forming a

  6. 长时程深部脑刺激外侧苍白球对转基因Huntington病大鼠认知和运动的影响%COGNITIVE AND MOTOR OUTCOME AFTER LONG-TERM GLOBUS PALLIDUS EXTERNA DEEP BRAIN STIMULATION TO TRANSGENIC HUNTINGTON'S DISEASE RAT

    Institute of Scientific and Technical Information of China (English)

    曹春燕; Yasin Temel; Arjan Blokland; Veerle Visser-Vandewalle; Harry W. M. Steinbusch; 陈生弟; 刘振国

    2006-01-01

    我们研究了深部脑刺激(deep brain stimulation,DBS)对转基因Huntington病大鼠认知能力和运动功能的影响.实验结果表明:电极植入手术能改善Huntington病大鼠的认知能力,例如:在选择反应时间实验(choice reaction time task,CRTtask)中,反应准确率增加,偏倚率减少.但对不同基因型大鼠,改善程度相同.在对大鼠外侧苍白球部(GPe)进行长时间深部脑刺激后,反应准确率增加,不同基因型大鼠的增加幅度有所不同.另外,深部脑刺激后,CRT实验中的运动时间和反应时间并没有变化.但是纯合子大鼠的舞蹈样运动明显改善.本研究结果表明深部脑刺激转基因Huntington病大鼠的GPe能明显改善其认知能力和运动功能,这预示着DBS在Huntington病的治疗中将有很大的应用前景.%In this study, we treated transgenic Huntington's disease (tgHD) model rat with deep brain stimulation (DBS) and evaluated the cognitive and motor outcome. The results showed that the surgery of implanting electrode improved cognition, increased correct rate and decreased response bias in choice reaction time (CRT) task, with similar extent on various genotypes. After long-term DBS to globus pallidus externa( GPe), correct rate was enhanced. The enhancement was genotype related. Additionally, the motor time and reaction time in CRT task reflecting the movement initiation kept the same value, but the chorea-form movement of homozygous rats was rectified prominently after the treatment of DBS. The present results demonstrated that the operation of long-term DBS to globus pallidus externa can improve the cognition and motor outcome of tgHD rats, which implied DBS operation might shed light on HD patients in the future.

  7. Cannabinoids: novel medicines for the treatment of Huntington's disease.

    Science.gov (United States)

    Sagredo, Onintza; Pazos, M Ruth; Valdeolivas, Sara; Fernandez-Ruiz, Javier

    2012-04-01

    Cannabinoid pharmacology has experienced a notable increase in the last 3 decades which is allowing the development of novel cannabinoid-based medicines for the treatment of different human pathologies, for example, Cesamet® (nabilone) or Marinol® (synthetic Δ9-tetrahydrocannabinol for oral administration) that were approved in 80s for the treatment of nausea and vomiting associated with chemotherapy treatment in cancer patients and in 90s for anorexiacachexia associated with AIDS therapy. Recently, the british company GW Pharmaceuticals plc has developed an oromucosal spray called Sativex®, which is constituted by an equimolecular combination of Δ9-tetrahydrocannabinol- and cannabidiol- enriched botanical extracts. Sativex® has been approved for the treatment of specific symptoms (i.e. spasticity and pain) of multiple sclerosis patients in various countries (i.e. Canada, UK, Spain, New Zealand). However, this cannabis- based medicine has been also proposed to be useful in other neurological disorders given the analgesic, antitumoral, anti-inflammatory, and neuroprotective properties of their components demonstrated in preclinical models. Numerous clinical trials are presently being conducted to confirm this potential in patients. We are particularly interested in the case of Huntington's disease (HD), an autosomal-dominant inherited disorder caused by an excess of CAG repeats in the genomic allele resulting in a polyQ expansion in the encoded protein called huntingtin, and that affects primarily striatal and cortical neurons thus producing motor abnormalities (i.e. chorea) and dementia. Cannabinoids have been studied for alleviation of hyperkinetic symptoms, given their inhibitory effects on movement, and, in particular, as disease-modifying agents due to their anti-inflammatory, neuroprotective and neuroregenerative properties. This potential has been corroborated in different experimental models of HD and using different types of cannabinoid agonists

  8. Clinical, laboratory and neuroimage findings in juvenile systemic lupus erythematosus presenting involvement of the nervous system Achados clínicos, laboratoriais e de imagem no lupus eritematoso sistêmico juvenil com comprometimento do sistema nervoso

    Directory of Open Access Journals (Sweden)

    Mônica Jaques Spinosa

    2007-06-01

    Full Text Available OBJECTIVE: To characterize neurological involvement in juvenile systemic lupus erythe-matosus. METHOD: The charts of all patients with the diagnosis of systemic lupus erythematosus before the age of 16 years, followed at the Rheumatology Unit of Pequeno Príncipe Hospital, from January 1992 to January 2006, were retrospectively reviewed, highlighting neuropsychiatric aspects. RESULTS: Forty-seven patients were included. Neuropsychiatric syndromes were found 29 (61.7%: seizures (17 / 36.2%, intractable headache (7 / 14.9%, mood disorders (5 / 10.6%, cerebrovascular disease (4 / 8.5%, acute confusional state (3 / 6.4%, aseptic meningitis (3 / 6.4%, psychosis (3 / 6.4%, chorea (3 / 6.4%, Guillain-Barré syndrome (2 / 4.3% and cranial neuropathy (1 / 2.1%. Morbidity indexes (SLEDAI and SLICC were higher among patients with neuropsychiatric manifestations (pOBJETIVO: Caracterizar o comprometimento neurológico no lupus eritematoso sistêmico juvenil. MÉTODO: Os prontuários dos pacientes com o diagnóstico de lupus eritematoso sistêmico antes dos 16 anos de idade, em acompanhamento na Unidade de Reumatologia do Hospital Pequeno Príncipe, de janeiro de 1992 a janeiro de 2006, foram revisados retrospectivamente enfatizando aspectos neuropsiquiátricos. RESULTADOS: Quarenta e sete pacientes foram incluídos. Síndromes neuropsiquiátricas foram encontradas em 29 (61,7%: crises convulsivas (17 / 36,2%, cefaléia intratável (7 / 14,9%, distúrbios do humor (5 / 10,6%, doença cerebrovascular (4 / 8,5%, estado confusional agudo (3 / 6,4%, meningite asséptica (3 / 6,4%, psicose (3 / 6,4%, coréia (3 / 6,4%, síndrome de Guillain-Barré (2 / 4,3% e neuropatia craniana (1 / 2,1%. Índices de morbidade (SEDAI e SLICC foram maiores em pacientes com manifestações neuropsiquiátricas (p<0,05. CONCLUSÃO: Síndromes neuropsiquiátricas são um achado freqüente que acrescenta morbidade significativa ao lupus eritematoso sistêmico juvenil.

  9. Risk of subsequent coronary heart disease in patients hospitalized for immune-mediated diseases: a nationwide follow-up study from Sweden.

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    Bengt Zöller

    Full Text Available BACKGROUND: Certain immune-mediated diseases (IMDs, such as rheumatoid arthritis and systemic lupus erythematosus, have been linked to cardiovascular disorders. We examined whether there is an association between 32 different IMDs and risk of subsequent hospitalization for coronary heart disease (CHD related to coronary atherosclerosis in a nationwide follow up study in Sweden. METHODS AND FINDINGS: All individuals in Sweden hospitalized with a main diagnosis of an IMD (n = 336,479 without previous or coexisting CHD, between January 1, 1964 and December 31 2008, were followed for first hospitalization for CHD. The reference population was the total population of Sweden. Standardized incidence ratios (SIRs for CHD were calculated. Overall risk of CHD during the first year after hospitalization for an IMD was 2.92 (95% CI 2.84-2.99. Twenty-seven of the 32 IMDs studied were associated with an increased risk of CHD during the first year after hospitalization. The overall risk of CHD decreased over time, from 1.75 after 1-5 years (95% CI 1.73-1.78, to 1.43 after 5-10 years (95% CI 1.41-1.46 and 1.28 after 10+ years (95% CI 1.26-1.30. Females generally had higher SIRs than males. The IMDs for which the SIRs of CDH were highest during the first year after hospitalization included chorea minor 6.98 (95% CI 1.32-20.65, systemic lupus erythematosus 4.94 (95% CI 4.15-5.83, rheumatic fever 4.65 (95% CI 3.53-6.01, Hashimoto's thyroiditis 4.30 (95% CI 3.87-4.75, polymyositis/dermatomyositis 3.81 (95% CI 2.62-5.35, polyarteritis nodosa 3.81 (95% CI 2.72-5.19, rheumatoid arthritis 3.72 (95% CI 3.56-3.88, systemic sclerosis 3.44 (95% CI 2.86-4.09, primary biliary cirrhosis 3.32 (95% CI 2.34-4.58, and autoimmune hemolytic anemia 3.17 (95% CI 2.16-4.47. CONCLUSIONS: Most IMDs are associated with increased risk of CHD in the first year after hospital admission. Our findings suggest that many hospitalized IMDs are tightly linked to coronary atherosclerosis.

  10. Mutations in parkin gene in patients with familial Parkinson's disease%家族性帕金森病患者parkin基因缺失突变的初步研究

    Institute of Scientific and Technical Information of China (English)

    柳四新; 唐北沙; 张智博; 严新翔

    2004-01-01

    AIM:To investigate mutations of exon 3- 7 of parkin gene in Chinese patients with familial Parkinson's disease(PD) and the clinical characteristics of familial PD. METHODS:Peripheral blood samples were collected from six PD patients who were genetically unrelated with others to extract DNA.Mutation analysis of the exon 3- 7 in DNA obtained from peripheral blood was carried out using gradient gel electrophoresis of polymerase chain reaction(PCR) amplification. RESULTS:One patient was found deletion of exon 5 while none was found mutation of exon 3,4,6,and 7.In the patient with exon 5 deletion,PD was inherited as autosomal dominant.Onset of the disease was at 60 years of age.Clinical presentations included tremor, rigidity and hypokinesis,but no chorea. CONCLUSION:Exon 5 deletion has been found in Chinese patients with familial PD.%目的:探讨中国家族性帕金森病( parkinson's disease, PD)患者 parkin基因第 3~ 7外显子是否存在缺失突变,及其与该病临床特点的关系. 方法:采集 6例无血缘相关的家族性 PD患者外周血液,提取 DNA,通过 PCR扩增、琼脂糖凝胶电泳鉴定 parkin基因第 3~ 7外显子缺失突变,并结合临床资料分析. 结果: 6例无血缘相关的家族性 PD患者中,发现 1例有第 5外显子缺失,其遗传模式呈常染色体隐性遗传,起病年龄 60岁,临床表现为震颤、僵直和运动迟缓,但无异动症.第 3, 4, 6, 7外显子未发现缺失突变. 结论:中国家族性 PD患者中存在 parkin基因第 5外显子缺失突变改变.

  11. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

    LENUS (Irish Health Repository)

    Anheim, M

    2009-10-01

    Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected AOA2. An AOA2 diagnosis was established for 90 patients, originating from 15 countries worldwide, and 25 new senataxin gene mutations were found. In patients with AOA2, median AFP serum level was 31.0 microg\\/l at diagnosis, which was higher than the median AFP level of AOA2 negative patients: 13.8 microg\\/l, P = 0.0004; itself higher than the normal level (3.4 microg\\/l, range from 0.5 to 17.2 microg\\/l) because elevated AFP was one of the possible selection criteria. Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%. No patient was lacking both peripheral neuropathy and cerebellar atrophy. The age at onset and presence of occasional oculomotor apraxia were negatively correlated to the progression rate of the disease (P = 0.03 and P = 0.009, respectively), whereas strabismus was positively correlated to the progression rate (P = 0.03). An increased AFP level as well as cerebellar atrophy seem to be stable in the course of the disease and to occur mostly at or before the onset of the disease. One of the two patients with a normal AFP level at diagnosis had high AFP levels 4 years later, while the other had borderline levels. The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level > or =7 microg\\/l, is 0.23% and the probability for a non-Friedreich ataxia non

  12. Frequência de internações por febre reumática em um hospital pediátrico de referência em um período de 20 anos Frequency of admission of patients with rheumatic fever to a referral children's hospital during a 20-year period

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    André Pacheco Silva

    2010-06-01

    the following data were collected: age, sex, evidence of previous estreptococcal infection, clinical manifestations (revised Jones criteria and outcome. RESULTS: There were 99 hospital admissions: 59 in 1986, 17 in 1991, eight in 1996, 12 in 2001 and three in 2006. The age group between five and 15 years was predominant and 51% of the sample was composed of boys. Elevated levels of antistreptolysin O antibody were found in 54% of the patients. Regarding Jones major manifestations, carditis was very frequent (73%, followed by arthritis (44% and chorea (14%. Mitral insufficiency was the most observed valve disease and the percentage of heart failure among patients with carditis declined from 51% (1986 to zero (2006. Readmissions due to recurrence occurred in 31% of the cases, with one death. CONCLUSIONS: There was an expressive decrease in the number of patients with rheumatic fever admitted to the referral hospital. The decline in the percentage of heart failure over years suggests a less severe profile of the cases in recent years. The high number of recurrences suggests failures in secondary prophylaxis.

  13. 糖尿病性偏侧舞蹈症临床特征研究(附二例患者临床报道)%Hemichorea associated with diabetic hyperglycemia: a clinical characteristic analysis of 2 cases

    Institute of Scientific and Technical Information of China (English)

    刘庆; 董庆林; 秦永春

    2012-01-01

    Objective To investigate the clinical characteristics and the imaging features of patients with hemichorea associated with hyperglycemia in primary diabetes mellitus (DM). Methods We retrospectively analyzed the clinical manifestations and the neuroimaging features of 2 patients with hemichorea induced by hyperglycemia in primary DM, admitted to our hospital on 9 and 29 October 2010; the related literatures about this disease were reviewed. Results These 2 patiewnts were both old female diabetics with acute onset of symptomatic hemichorea. One had an outbreak during using insulin to control blood glucose and the other did without using insulin; at first,case 2 symptom of one side chorea was showed,and then both sides were noted.CT findings indicated T1-high-density shadow in the contralateral caudate nucleus, putamen and globus pallidus (CT values in 50 Hu or so); MR imaging indicated that T1WI showed high-signal in the contralateral caudate nucleus,putamen and globus pallidus,while T2WI showed low-signal; partial light atrophy but no strengthening phenomenon in lesion location were noted. These patients were treated effectively with haloperidol and clonazepam.Conclusion Hemichorea induced by hyperglycemia often involves diabetic patients with poor glucose control. Characteristic imaging changes in the contralateral basal ganglia; blood glucose control is the foundation of treatment; haloperidol and clonazepam are helpful in controling hemichorea.%目的 探讨糖尿病性偏侧舞蹈症的临床特点和影像学表现. 方法 回顾性分析日照市人民医院神经内科2010年10月9日、29日收治的2例糖尿病性偏侧舞蹈症患者的临床症状、影像学特征等资料,并复习相关文献. 结果 2例均为老年女性糖尿病患者,舞蹈症状均为急性起病(1例在应用胰岛素控制血糖的过程中发生,l例在未用胰岛素控制血糖的情况下发生),例2初为偏侧舞蹈症状,后出现双侧舞

  14. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia

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    Mohammad BARZEGAR

    2012-09-01

    Full Text Available How to Cite this Article: Barzegar M, Sayadnasiri M, Tabrizi A. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia. Iran J Child Neurol 2012; 6(3: 39-43.Oculodentodigitalis dysplasia (ODDD is an extremely rare inherited disorderinvolving the development of the face, eyes, teeth and limbs. In addition,some patients develop neurological problems mostly a spastic paraparesisassociated with white matter abnormalities on magnetic resonance imaging.This report describes a patient with epilepsy, a rare neurologic manifestationof this syndrome.ReferencesJudisch GF, Martin-Casals A, Hanson JW, Olin WH.Oculodentodigital dysplasia. Four new reports and aliterature review. Arch Ophthalmol 1979 May;97(5:878-84.Paznekas WA, Boyadjiev SA, Shapiro RE, DanielsO, Wollnik B, Keegan CE, et al. Connexin 43(GJA1 mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003 Feb;72(2:408-18.Parashari UC, Khanduri S, Bhadury S, Qayyum FA.Radiographic diagnosis of a rare case of oculodentodigital dysplasia. SA J Radiology 2011:134-6.van Es RJ, Wittebol-Post D, Beemer FA. Oculodentodigital dysplasia with mandibular retrognathism and absenceof syndactyly:a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg 2007 Sep;36(9:858-60.Aminabadi NA, Ganji AT, Vafaei A, Pourkazemi M,Oskouei SG. Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and asibling. J Clin Pediatr Dent 2009 Summer;33(4:337-41.Loddenkemper T, Grote K, Evers S, Oelerich M, StogbauerF. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 2002 May;249(5:584-95.Opjordsmoen S, Nyberg-Hansen R. Hereditary spasticparaplegia with neurogenic bladder disturbances and syndactylia. Acta Neurol Scand 1980 Jan;61(1:35-41.Farmer TW, Wingfield MS, Lynch SA, Vogel FS, HuletteC, Katchinoff B, et al. Ataxia, chorea, seizures, and dementia. Pathologic features of a newly

  15. NEUROTRANSMITTERS AND IMMUNITY: 1. DOPAMINE

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    Lucian Hritcu

    2007-08-01

    Full Text Available Dopamine is one of the principal neurotransmitters in the central nervous system (CNC, and its neuronal pathways are involved in several key functions such as behavior (Hefco et al., 2003a,b, control of movement, endocrine regulation, immune response (Fiserova et al., 2002; Levite et al., 2001, Hritcu et al., 2006a,b,c, and cardiovascular function. Dopamine has at least five G-protein, coupled receptor subtypes, D1-D5, each arising from a different gene (Sibley et al., 1993. Traditionally, these receptors have been classified into D1-like (the D1 and D5 and D2-like (D2, D3 and D4 receptors subtypes, primarily according to their ability to stimulate or inhibit adenylate cyclase, respectively, and to their pharmacological characteristics (Seeman et al., 1993. Receptors for dopamine (particularly of D2 subclass are the primary therapeutic target in a number of neuropathological disorders including schizophrenia, Parkinson’s disease and Huntington’s chorea (Seeman et al., 1987. Neither dopamine by itself, nor dopaminergic agonists by themselves, has been shown to activate T cell function. Nevertheless, lymphocytes are most probably exposed to dopamine since the primary and secondary lymphoid organs of various mammals are markedly innervated, and contain nerve fibers which stain for tyrosine hydroxylase (Weihe et al., 1991, the enzyme responsible for dopamine synthesis. Moreover, cathecolamines and their metabolites are present in single lymphocytes and in extracts of T and B cell clones, and pharmacological inhibition of tyrosine hydroxylase reduces catecholamine levels, suggesting catecholamine synthesis by lymphocytes (Bergquist et al., 1994. The existence of putative dopamine receptors of D2, D3, D4 and D5 subtypes on immune cells has been proposed of several authors, primarily on the basis of dopaminergic ligand binding assays and specific mRNA expression as monitored by reverse transcription-PCR. Several experiments evoked the idea of a

  16. Aspectos da gravidez e pós-parto de adolescentes portadoras de febre reumática Aspects of the pregnancy and post delivery of adolescents with rheumatic fever

    Directory of Open Access Journals (Sweden)

    Ana Julia Pantoja Moraes

    2004-09-01

    evaluated 510 patients, 123 (43% were female adolescents. Sixteen (13% patients became pregnant during this period, with a total of 19 gestations (one presented two gestations and another three; 14 realized the prenatal care appropriately. Age of the first gestation ranged from 14 to 19 years (mean 16.7; and age at the beginning of sexual activity ranged from 13 to 18 years (mean 15.2. Mitral insufficiency occurred in 15 cases associated with aortic insufficiency in 5. Intercurrent disease during prenatal care was observed in two patients: in one there was recurrence of RF with chorea and in the other HIV infection. Vaginal delivery occurred in seven adolescents, forceps delivery in three and cesarean in four: one with HIV, one with twin pregnancy and two with functional dystocia. Thirteen newborn were adequate for gestational age and only the twins were premature. In the postpartum, one patient presented infection in the surgical incision and another had mammary abscess. No patient reactivated RF in childbirth or postpartum. CONCLUSIONS: Pregnancies did not present cardiac decompensation, there was however predominance of mild valvulitis. Precocious sexual activity and greater incidence of pregnancy among adolescents are realities in the pediatric rheumatology clinics; consequently there is a need for improved orientation in relation to sexuality and use of birth-control methods in the routine of such services.

  17. 糖尿病性偏侧舞蹈症2例报道并文献复习%Hemichorea Associated with Diabetic Hyperglycemia:A Linical Characteristic Analysis of 2 Cases

    Institute of Scientific and Technical Information of China (English)

    黄勉

    2013-01-01

    目的:探讨糖尿病非酮症性偏身舞蹈症的病因、临床特点、发病机制、影像学特征及治疗。方法:糖尿病非酮症性偏侧舞蹈症患者2例,对其临床特点进行了分析讨论并复习近10年相关文献,总结分析其临床特点、发病机制及影像学表现。结果:2例患者均为老年,急性起病,清醒时出现,睡眠时消失。症状偏身舞蹈动作,既往1例有糖尿病史另1例否认糖尿病史,通过测血糖明确糖尿病诊断。早期CT表现为舞蹈症状对侧的尾状核、壳核和(或)苍白球的高密度影像,并在1~3个月左右减弱或消失;磁共振(MRI)T1像为病灶部位的片状高信号,在持续数月后信号减低,T2则表现为多变信号,边界清晰,无水肿征象。结论:糖尿病性偏侧舞蹈症多见于糖尿病控制不佳的高血糖症患者,病变部位以纹状体为主,其早期头颅CT表现为高密度影,MRI T1像为高信号、T2像为多变信号,影像学改变可能与高血糖导致血液高黏度、低灌注、血脑屏障破坏有关,头颅CT表现要与脑出血相鉴别,要结合磁共振(MRI)及临床表现相鉴别,因此认识这种突发的偏侧舞蹈症状及影像变化有利于糖尿病性偏侧舞蹈症的早期诊断与治疗。%Objective:Discussion of diabetic Nonketotic dance of the etiology, clinical features, pathogenesis, diagnosis, imaging and treatment. Methods:I admitted to hospital of diabetic Nonketotic 2 cases of unilateral Chorea, conducted an analysis of its clinical features discussed and nearly 10 years in review related documentation, summary analysis of its clinical features, pathogenesis, diagnosis and Imaging.Result:2 patients are elderly, acute disease, occurs while awake, sleep disappears. Symptoms are dance movements, past cases have a history of diabetes and the other a case denying the history of diabetes, by measuring blood sugar clear diagnosis of diabetes mellitus. Early symptoms of CT manifestation for

  18. 苯海索治疗不同亚型不随意运动型脑瘫患儿运动功能的疗效观察

    Institute of Scientific and Technical Information of China (English)

    张峰; 冯珍

    2016-01-01

    the target dose of 4 mg / d, daily dose divided into 2 or 3 times service. Respectively into the group, after treatment (6 months after), the were GMFM, GMFCS, FMFM and WeeFIM assessment, and record the salivation and drug resistance. Results The three groups after treatment in children with GMFM score [group A (35.490±19.327), group B (29.110±11.864), group C (15.540±11.598)] have significant difference (F=4.988, P<0.05), group AB and group C comparison were statistically significant (P<0.05), between the group AB compared with no significant difference. Have statistical difference (F=4.319, P<0.05) of three groups of children with WeeFIM scores [group A (49.000±22.520), group B (38.780±11.914), group C (27.000±12.179)], group A and group B with the score of patients compare with group C had significant difference (P<0.05), and in the groups A and B of children with no significant difference. There was no significant difference in GMFCS and FMFM between the three groups. Three groups of children with salivation were improved, no significant difference. The athetoid-spastic cerebral palsy children can be observed exacerbated with spastic. Conclusion Benzhexol hydrochloride in the treatment of chorea-athetoid and athetosis type of dyskinetic cerebral palsy (CP) is helpful to improve the motor function and the ability to live independently, curative effect is better than that of dystonic cerebral palsy children. There was no significant difference between the three groups in the classification of General motor function and the improvement of the Fine motor function.

  19. Analysis of clinical features and risk factors for delayed encephalopathy after carbon monoxide poisoning%一氧化碳中毒迟发性脑病临床特征及危险因素分析

    Institute of Scientific and Technical Information of China (English)

    潘锐; 唐亚梅; 容小明; 沈庆煜; 谢海琴; 李鹏亮; 游春林; 彭英

    2012-01-01

    Objective To summarize the clinical features and potential risk factors of delayed encephalopathy after acute carbon monoxide poisoning (DEACMP). Methods We surveyed the profiles of 58 patients with carbon monoxide-poisoning encephalopathy admitted to three affiliated hospitals of Sun Yat-sen University between 1998 and 2011 and divided patients to DEACMP group ( n = 17) and non-DEACMP group ( re =41 ) , based on the presence of DEACMP. This was followed by univariate analysis on the age, gender, past history of smoking or alcohol drinking, history of hypertension or diabetes or stroke,duration of coma,COHb saturation and acute-phase hyperbaric oxygenation therapy. Further processing on the correlation between duration of coma and incidence rate of DEACMP was conducted via Logistic regression analysis regarding the indices with statistical difference or clinical value. Results The most common symptom of DEACMP was dementia, followed by agitans paralysis and psychiatric symptom, while chorea and focal neurological dysfunction was less clinically manifested. Electroencephalogram (EEG) was featured by extensive slow waves,and abnormal signals could be observed bilaterally in white matter and basal ganglia region. Lower incidence rate of DEACMP was associated with prolonged observation period more than 30 days after acute poisoning. Both prolonged duration of coma( OR = 1. 197 ,95% CI 1. 067 ~ 1. 343 ) and failure of initiating hyperbaric oxygen therapy at acute phase(OR =0. 160,95%CI 0.033 -0.776) were regarded as risk factors of DEACMP. Prolonged duration of coma for > 11 hours may result in markedly increased incidence rate of DEACMP. Conclusion Physicians should be alert to the incidence of DEACMP in patients with acute carbon monoxide poisoning who had prolonged duration of coma for > 11 hours, suggesting that early initiation of hyperbaric oxygen therapy may effectively reduce the incidence rate of DEACMP.%目的 总结急性一氧化碳中毒迟发性脑

  20. Clinical, laboratory, and neuroimaging characteristics of neuroacanthocytosis%神经棘红细胞增多症的临床及神经影像学特征

    Institute of Scientific and Technical Information of China (English)

    周祥琴; 关鸿志; 史向松; 崔丽英; 陈琳; 韩烨华; 任海涛

    2012-01-01

    -facial-lingual dystonia,3 patients firstly presented with involuntary movements of the distal limbs and experienced the oral facial dystonia during the course of disease,and 1 patient primary presented with a parkinsonian syndrome.Four patients had generalized tonic-clonic seizures were reported in 4 patients,and 4 patients had cognitive impairment.Hypotonia and hyporeflexia were reported in 6 patients.The peripheral blood smear revealed the presence of acanthocytes in 7 patients,in addition,wet preparation with saline dilution and scanning electron microscope revealed the presence of acanthocytes in the remaining one.All patients showed slightly elevated serum creatine kinase.Brain magnetic resonance imaging (MRI) showed variable atrophy of the bilateral caudate nuclei and putamen,with or without a rim of increased T2-intensity in 6 patients,but the films of 2 patients were read as normal.Electromyography and nerve conduction velocity were examined in 4 patients.The results indicated axonal damage in 2 patients,and were normal in the other 2 patients.Acanthocytosis was confirmed by peripheral blood smear in 7 cases,by wet preparation with saline dilution in 8 cases and by scanning electron microscope in 2 cases.Conclusions Neuroacanthocytosis is a progress neurodegenerative disorder mainly affected the basal ganglia. The clinical characteristics include oral facial dystonia,limbs chorea,cognitive impairment,and seizures. Brain MRI showed variable atrophy of the bilateral caudate nuclei and putamen.The peripheral blood smear,wet preparation with saline dilution,and scanning electron microscope methods of peripheral blood examination are critical in the diagnosis of neuroacanthocytosis.