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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. Sydenham's chorea

    Directory of Open Access Journals (Sweden)

    Bo ZHAO

    2014-07-01

    Full Text Available Sydenham's chorea (SC, as one of the most common children acquired chorea, is a characteristic clinical manifestation of rheumatic fever in nervous system. This article analyzed literatures with the disease at home and abroad in recent years, and summarized related knowledge of its etiology, pathogenesis, clinical manifestation, auxiliary examination, diagnosis and treatment. Furthermore, it presented the latest research progress in this field. Clinicians should be comprehensive in the analysis of patients' symptoms, signs and results of auxiliary examination, so as to fulfill early diagnosis and treatment. Consequently, effective control of the symptoms, shortening of the disease course and improvement of the prognosis can be achieved. doi: 10.3969/j.issn.1672-6731.2014.07.004

  3. 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...

  4. 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

  5. Nonketotic Hyperglycemic Chorea

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    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.

  6. 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...

  7. 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...

  8. 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.

  9. 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...

  10. 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. ...

  11. Severe chorea after acute carbon monoxide poisoning.

    OpenAIRE

    Davous, P; Rondot, P; Marion, M H; Gueguen, B

    1986-01-01

    Ten days after an acute exposure to carbon monoxide, a 33-year-old woman exhibited severe chorea. CT scan revealed bilateral lucencies of the pallidum and anterior arm of the internal capsule. Chorea was successfully treated by chlorpromazine and did not relapse after treatment withdrawal. The mechanism of chorea in acute carbon monoxide poisoning is discussed.

  12. [Acute rheumatic fever, Sydenham's chorea and psychopathology].

    Science.gov (United States)

    Gimzal, Aylan; Topçuoğlu, Volkan; Yazgan, M Yanki

    2002-01-01

    Acute rheumatic fever (ARF) is an autoimmune disorder that is triggered by group A beta-hemolytic streptococcal infections. ARF consists of several combinations of carditis, polyarthritis and Sydenham's chorea, and rarely seen erythema marginatum and subcutaneous nodules. Sydenham's chorea is seen in about 20% of patients with ARF. As a late symptom of ARF, Sydenham's chorea usually occurs 3 months or longer after the streptococcal infection. Sydenham's chorea is a neuropsychiatric disorder that may present with emotional lability, anxiety, obsessive compulsive symptoms, attention deficit and hyperactivity symptoms or tics. Obsessive-compulsive symptoms occur in 70% of patients with Sydenham's chorea. The role of the autoimmune mechanisms and the dysfunction of the basal ganglia have been demonstrated in Sydenham's chorea. Antibodies against group A beta-hemolytic streptococcus cross-react with basal ganglia. Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) shares the same mechanism with Sydenham's chorea, but PANDAS has not been shown to require penicillin prophylaxis. Thus it is important to distinguish between them. Sydenham's chorea is associated with adulthood OCD, Tourette syndrome and schizophrenia. These features make Sydenham's chorea an explanatory model for obsessive-compulsive disorder (OCD) and related disorders. This poststreptococcal disorder provides a treatment opportunity with new therapies like antibiotic therapy, plasma exchange and intravenous immunoglobulin therapy for psychiatric disorders. In this paper we summarize the phenomenological and treatment studies of OCD, attention deficit and hyperactivity disorder (ADHD), and tic disorders in subjects with ARF, with or without Sydenham's chorea. PMID:12794666

  13. Chorea as the presentating feature of neurosyphilis

    Directory of Open Access Journals (Sweden)

    Ozben Serkan

    2009-01-01

    Full Text Available Syphilis is still a significant public health problem in developing countries. Although chorea is a very rare manifestation of neurosyphilis, it might be on occasions the initial symptom. This report presents a patients with neurosyphilis who had chorea as the initial presenting symptom.

  14. 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.

  15. 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...

  16. 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...

  17. Management of rheumatic chorea: an observational study

    Directory of Open Access Journals (Sweden)

    Araújo Alexandra Prufer de Queiroz Campos

    2002-01-01

    Full Text Available BACKGROUND: Rheumatic chorea (RC has recently been linked to an antibody-mediated immune mechanism. OBJECTIVE/METHOD: To verify if this knowledge reflected in management changes we conceived a descriptive study. RESULTS: The medical charts of 20 children (13 females aged 6 to 12 years (mean 8 years, diagnosed as RC from June 1996 to June 1999, were reviewed. All patients received some medical treatment. Haloperidol was the most prescribed medication (15 patients - 75 %. Sulpiride, diazepam and valproate were also used as symptomatic treatment. Imune-modulating therapy with prednisone was prescribed for seven children. The shortest course of chorea (16 days occurred in a patient treated with prednisone. CONCLUSION: Prednisone has been prescribed for rheumatic chorea besides the traditional symptomatic approach. A great variety of antichoreic drugs are being employed.

  18. 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.

  19. 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

  20. 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...

  1. Hemi chorea hemiballism syndrome: the first presentation of type 2 diabetes mellitus as a rare cause of chorea

    International Nuclear Information System (INIS)

    Hemi chorea-hemiballism syndrome, which is most commonly related to non-ketotic hyperglycemia, is a rare type of chorea. Here, we present an unusual case of Hemi chorea-hemiballism syndrome who was not a known case of diabetes. This case highlights the importance of recognising underlying non-ketotic hyperglycemia, as control of hyperglycemia is helpful in the quick relief of symptoms.

  2. Sydenham's chorea as a presentation of Moyamoya disease.

    Science.gov (United States)

    Cardenas, Javier F; Chapman, Kevin

    2010-03-01

    A seven year-old male presented to his pediatrician with choreiform movements and a recent history of sore throat. He was diagnosed with Sydenham's chorea based on clinical criteria and laboratory evidence. Worsening symptoms prompted a magnetic resonance imaging (MRI) of the brain which demonstrated evidence of Moyamoya disease. Sydenham's chorea is a common and well-documented complication of post-streptococcal infection, but has not been previously reported in association with Moyamoya disease. This case raises the quandary of causality of chorea in this patient and the need for neuroimaging in children with movement disorders. PMID:20434690

  3. 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.

  4. Successful treatment of Sydenham's chorea with intravenous immunoglobulin.

    Science.gov (United States)

    Boersma, Nienke Anne; Schippers, Herman; Kuijpers, Taco; Heidema, Jojanneke

    2016-01-01

    We present a case of a 10-year-old girl diagnosed with Sydenham's chorea. Despite treatment with haloperidol and valproic acid for 2 weeks and antibiotics for 5 days, her symptoms continued to worsen. She became severely impaired in daily functioning, as she could barely speak or walk, experienced major feeding difficulties and required help with all daily activities. She was treated with intravenous immunoglobulin (IVIG). Within 4 days, her symptoms started to improve and after 1-month she had fully recovered. This case reminds us that Sydenham's chorea can result in major functional impairment. There is some evidence on the beneficial effect of IVIG in the treatment of Sydenham's chorea, as is evident in our case. Therefore, IVIG should be considered as a treatment option in patients with severe chorea. PMID:26837939

  5. Monocyte dysfunction in Sydenham's chorea patients.

    Science.gov (United States)

    Torres, Karen C; Dutra, Walderez O; de Rezende, Vitor Bortolo; Cardoso, Francisco; Gollob, Kenneth J; Teixeira, Antonio L

    2010-04-01

    Until now, there are no conclusive data about the mechanisms involved in motor symptoms of Sydenham's chorea (SC). Taking into account the autoreactive antibody-mediated hypothesis of SC pathogenesis, the SC may be associated with uncontrolled immune mechanisms. Besides the antibody hypothesis, the innate immune system has been underappreciated. Hence, we evaluated the activation state of monocytes, cells that are precursors of macrophages, to characterize the inflammation profile of patients. We assessed the surface molecules CD80, CD86, and human leukocyte antigen DR expression in patients with SC by flow cytometry analysis. Our results showed a decreased CD14(+) (monocyte) frequency, with concomitant increased CD14(-) frequency inside monocyte population. Although monocyte population showed a decreased human leukocyte antigen DR and CD86 frequencies, the CD14(-) population showed an increased frequency of CD80(+) monocyte from SC compared with controls. These data suggest that monocytes showed a reduced costimulatory potential in SC. PMID:20080141

  6. 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

  7. 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...

  8. 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...

  9. 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.

  10. Further Evidence for Celiac Disease-associated Chorea

    OpenAIRE

    Walker, Ruth H.

    2011-01-01

    Background A number of neurological conditions have been reported to be associated with gluten sensitivity, including ataxia, peripheral neuropathy, epilepsy, and occasionally, chorea. The pathogenic role of anti-gliadin antibodies has been questioned, and pathophysiology remains controversial. Case Report I report chorea in a patient with celiac disease, which responded to a gluten-restricted diet. The response of the movement disorder to change in diet strongly suggests a functional role fo...

  11. Functional brain imaging in Sydenham's chorea and streptococcal tic disorders.

    Science.gov (United States)

    Citak, Elvan Caglar; Gücüyener, Kivilcim; Karabacak, Nese Ilgin; Serdaroğlu, Ayşe; Okuyaz, Cetin; Aydin, Kurşad

    2004-05-01

    Group A streptococcal infections cause a wide range of neuropsychiatric disorders, such as Sydenham's chorea, tics, obsessive-compulsive disorders, and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Structural (computed tomography and magnetic resonance imaging) and functional (positron emission tomography, single-photon emission computed tomography) imaging studies in patients with Sydenham's chorea have suggested reversible striatal abnormalities. The objective of this study was to investigate the cerebral perfusion patterns of the subcortical structures by using hexamethylpropylenamine oxime single-photon emission computed tomography (HMPAO-SPECT) in seven cases of Sydenham's chorea and two cases of streptococcal tic disorder. HMPAO-SPECT studies revealed a hyperperfusion pattern in two and a hypoperfusion pattern in five of the chorea patients and in two patients with tic disorder. The results are discussed in relation to the duration and severity of the symptoms and the response to therapy. Functional imaging findings can be variable in Sydenham's chorea, and hyperperfusion of the striatum and thalamus could be an indicator of the response to therapy and the severity of symptoms. However, the number of cases so far investigated by either SPECT or positron emission tomography is still too limited to draw any firm conclusions. PMID:15224712

  12. 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

  13. Reduced 123I Ioflupane Binding in Bilateral Diabetic Chorea

    Science.gov (United States)

    Sato, Kenichiro; Hida, Ayumi; Kameyama, Masashi; Morooka, Miyako; Takeuchi, Sousuke

    2016-01-01

    Abstract We report a 64-year-old man with diabetic chorea whom we investigated with dopamine transporter SPECT, 18F FDG PET, 99mTc ethylcysteinate dimer (ECD) SPECT, and 123I metaiodobenzylguanidine (MIBG) scintigraphy. Dopamine transporter SPECT revealed reduced 123I ioflupane binding in the bilateral striatum. 18F FDG PET showed metabolic dysfunction in the bilateral striatum, as shown in earlier studies. 99mTc ECD SPECT revealed reduced brain perfusion in the bilateral caudate nucleus and putamen. 123I MIBG scintigraphy revealed no cardiac sympathetic nerve dysfunction. Our case suggests a possible nigrostriatal presynaptic dopaminergic involvement in diabetic chorea. PMID:26975011

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

    Directory of Open Access Journals (Sweden)

    Ayşe Deniz Elmalı

    2015-09-01

    Full Text Available 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 are included in the differential diagnosis. Here, we discuss differential diagnosis and approach to late onset chorea based on a case with late onset chorea, whose clinical findings suggested chorea-acanthocytosis at first, but revealed to be Huntington disease after detailed laboratory studies.

  15. 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...

  16. 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

  17. 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

  18. 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...

  19. 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...

  20. 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.

  1. 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...

  2. 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 ...

  3. 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 ...

  4. Sydenham's chorea, and its complications affecting the nervous system.

    Science.gov (United States)

    Gordon, Neil

    2009-01-01

    The well-known symptoms of rheumatic fever and Sydenham's chorea are briefly discussed. Then the associated psychiatric and neurological disorders are considered, especially the obsessive-compulsive and the attention deficit hyperactivity disorders; all linked to previous haemolytic streptococcal infections. Dystonic syndromes, and acute disseminated encephalopathies, also show such links; and may be part of the clinical spectrum of the post-infectious streptococcal illnesses. The causes of Sydenham's chorea are considered, especially an immune reactivity against the basal ganglia, supported by the finding of antibodies reactive against the neurons of the caudate nucleus. The resulting imbalance between dopaminergic and cholinergic systems may cause the involuntary choreiform movements, and account for the beneficial effects of certain drugs. The differential diagnosis of Sydenham's chorea is discussed, and the role of tests such as special imaging techniques. The possible treatments include prophylaxis with penicillin and the use of drugs like sodium valproate, carbamazapine and haloperidol. Immune therapy occupies a special role in selected patients, There is still a need for research into the links between these conditions. PMID:18558468

  5. A possible post-streptococcal movement disorder with chorea and tics.

    Science.gov (United States)

    Kerbeshian, J; Burd, L; Pettit, R

    1990-07-01

    A 14-year-old girl developed a movement disorder after a streptococcal infection. In the acute phase of the illness she exhibited simple and complex motor tics and chorea, but all abnormal movements ceased over the following eight months, without recurrence. This case raises questions about the relationship between tics, chorea and auto-immune reactivity. PMID:2391015

  6. Secondary enuresis associated with chorea in a Nigerian girl

    Directory of Open Access Journals (Sweden)

    Ibrahim Aliyu

    2014-01-01

    Full Text Available Enuresis is a distressing psycho-social disorder. It is often a neglected disorder, and its effect on the psychosocial development of a child is often overlooked, especially in those of low socio-economic status. Its exact pathophysiology is not completely understood, but it has been related to the effect of dopamine in the basal ganglia. However, its association with pediatric autoimmune neuropsychiatric disorder associated with streptococci infection is well-established. But, the case of an 11-year-old Nigerian girl diagnosed with Sydenham′s chorea and had secondary enuresis is reported.

  7. Immune-mediated extrapyramidal movement disorders, including Sydenham chorea.

    Science.gov (United States)

    Dale, Russell C

    2013-01-01

    Immune-mediated extrapyramidal movement disorders typically occur in previously healthy children. Immune-mediated movement disorders may occur as a postinfectious, paraneoplastic, or idiopathic process. Sydenham chorea (SC) is the classical poststreptococcal movement and psychiatric disorder, and may be associated with other features of rheumatic fever. The outcome is typically good, although residual chorea, psychiatric disturbance, and relapses are possible. Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) is a syndrome of streptococcal-induced tics and obsessive-compulsive disorder. Although a number of investigators have reported an association between streptococcal infection and neuropsychiatric syndromes, the PANDAS hypothesis is controversial. Encephalitis lethargica is an encephalitic illness with parkinsonism, dyskinesias, and psychiatric disturbance as dominant features. The exact disease mechanism is not understood, although an autoimmune process is suspected. NMDA-R encephalitis is a new entity characterized by encephalitis with dramatic psychiatric disturbance, dyskinesias, cognitive alteration, and seizures. Patients have autoantibodies against the NMDA-R that appear to be pathogenic: immune therapies appear warranted to minimize disability. Movement disorders are also described associated with systemic lupus erythematosus and antiphospholipid syndrome. The differential diagnosis and investigation approach of acute-onset movement disorders are also discussed. PMID:23622334

  8. 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.)

  9. 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

  10. 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 ...

  11. 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'...

  12. 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...

  13. 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 ...

  14. 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

  15. Paroxysmal Chorea as a Relapse of Myelopathy in a Patient with Neuromyelitis Optica

    Directory of Open Access Journals (Sweden)

    Sang-Soo Lee

    2009-10-01

    Full Text Available Movement disorders secondary to intrinsic spinal cord disease are rare. Paroxysmal chorea has not yet been reported in the neuromyelitis optica (NMO. We report a 43-year-old woman with relapsing-remitting cervical myelopathy who developed paroxysmal chorea during clinical exacerbation of NMO. MRI scan of the cervical spine revealed a long segmental enhancing lesion, but brain MRI did not show any responsible abnormalities. Acute exacerbation of recurrent myelopathy in NMO may be associated with transient movement disorder.

  16. A Case of a Patient with Both Chorea and Restless Legs Syndrome

    OpenAIRE

    Shin, Yoon-Kyung; Hong, Seung-Chul; Ihn, Yon Kwon; Jeong, Jong-Hyun; Han, Jin-Hee; Lee, Sung-Pil

    2008-01-01

    The patient was a 44-yr-old man with end-stage renal disease who had developed chorea as a result of hypoglycemic injury to the basal ganglia and thalamus and who was subsequently diagnosed with depression and restless legs syndrome (RLS). For proper management, the presence of a complex medical condition including two contrasting diseases, chorea and RLS, had to be considered. Tramadol improved the pain and dysesthetic restlessness in his feet and legs, and this was gradually followed by imp...

  17. 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...

  18. 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...

  19. 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...

  20. 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)

  1. 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.

  2. Chorea and Retinal Vessel Occlusion in A Patient with Systemic Lupus Erythematosus

    Directory of Open Access Journals (Sweden)

    Vahid Reza Ostovan

    2013-04-01

    Full Text Available Various neurological complications occur in primary or secondary antiphospholipid syndrome (APS consisting of cerebrovascular attacks, ocular events, dementia, seizure, chorea, and transverse myelopathy that are all related to the titer of antiphospholipid antibodies (aPL. We report a patient with chorea and retinal vessel occlusion as manifestations of systemic lupus erythematosus (SLE and APS. A 27-year-old man presented with progressive visual field defect and decreases visual acuity of right eye (OD as well as involuntary movements in both hands and slurred speech. Investigations led to the diagnosis of SLE and APS. Anticoagulant and immunosuppressant was started for him. As his condition improved, the prednisolone was gradually tapered. This is the first case report of concomitant retinal vessel occlusion and chorea in SLE and APS.

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

    International Nuclear Information System (INIS)

    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

  4. 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.)

  5. 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

  6. 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

  7. 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...

  8. 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...

  9. 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.

  10. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

    Science.gov (United States)

    Mencacci, Niccolò E; Kamsteeg, Erik-Jan; Nakashima, Kosuke; R'Bibo, Lea; Lynch, David S; Balint, Bettina; Willemsen, Michèl A A P; Adams, Matthew E; Wiethoff, Sarah; Suzuki, Kazunori; Davies, Ceri H; Ng, Joanne; Meyer, Esther; Veneziano, Liana; Giunti, Paola; Hughes, Deborah; Raymond, F Lucy; Carecchio, Miryam; Zorzi, Giovanna; Nardocci, Nardo; Barzaghi, Chiara; Garavaglia, Barbara; Salpietro, Vincenzo; Hardy, John; Pittman, Alan M; Houlden, Henry; Kurian, Manju A; Kimura, Haruhide; Vissers, Lisenka E L M; Wood, Nicholas W; Bhatia, Kailash P

    2016-04-01

    Chorea is a hyperkinetic movement disorder resulting from dysfunction of striatal medium spiny neurons (MSNs), which form the main output projections from the basal ganglia. Here, we used whole-exome sequencing to unravel the underlying genetic cause in three unrelated individuals with a very similar and unique clinical presentation of childhood-onset chorea and characteristic brain MRI showing symmetrical bilateral striatal lesions. All individuals were identified to carry a de novo heterozygous mutation in PDE10A (c.898T>C [p.Phe300Leu] in two individuals and c.1000T>C [p.Phe334Leu] in one individual), encoding a phosphodiesterase highly and selectively present in MSNs. PDE10A contributes to the regulation of the intracellular levels of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP). Both substitutions affect highly conserved amino acids located in the regulatory GAF-B domain, which, by binding to cAMP, stimulates the activity of the PDE10A catalytic domain. In silico modeling showed that the altered residues are located deep in the binding pocket, where they are likely to alter cAMP binding properties. In vitro functional studies showed that neither substitution affects the basal PDE10A activity, but they severely disrupt the stimulatory effect mediated by cAMP binding to the GAF-B domain. The identification of PDE10A mutations as a cause of chorea further motivates the study of cAMP signaling in MSNs and highlights the crucial role of striatal cAMP signaling in the regulation of basal ganglia circuitry. Pharmacological modulation of this pathway could offer promising etiologically targeted treatments for chorea and other hyperkinetic movement disorders. PMID:27058447

  11. Sydenham's chorea and erythema marginatum as the first clinical presentation of acute rheumatic fever

    Directory of Open Access Journals (Sweden)

    Farhang Babamahmoodi

    2009-01-01

    Full Text Available (Received 5 February, 2009 ; Accepted 13 Jan, 2010AbstractAcute rheumatic fever is an acute systemic disease due to autoimmune reaction against some of BHSA. Similarity between bacterial antigens and cardiaciovascular tissue, synovial membrane, joints and subcutaneous tissues and cerebral basal ganglions are the causes of autoimmune reactions and manifestation of the disease. Most of the ARF occur in children (5-14 years old followed by streptococcal pharyngitis and the disease is very rare in adults.Sydenham's chorea is a late manifestation of ARF and one of the John's diagnostic criteria that is usually revealed when the other criteria are absent. There is often a long latent period between clinical manifestations of the ARF and the onset of chorea as an uncommon initial presentation of acute rheumatic fever. We report the clinical findings, investigations and the course of clinical development of a seventeen-year-old girl, who presented with acute onset of abnormal involuntary movements in her right hand for two days before her admission. She had sore throat and fever three weeks before development of these new problems. Her complaints disappeared with proper treatment. The considerable findings in this case report was co-incidence of Sydenham's chorea with erythema marginatum, fever, severe mitral valve insufficiency, arthralgia in an adult patient that is a very rare case. She was discharged after a 10-day treatment regime.Key words: Acute rheumatic fever, sydenham's chorea, erythema marginatumJ Mazand Univ Med Sci 2009; 20(74: 91-97 (Persian.

  12. 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...

  13. 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...

  14. 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...

  15. 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...

  16. Phenytoin induced chorea in a pediatric patient: An interaction between phenytoin, phenobarbital and clobazam

    Directory of Open Access Journals (Sweden)

    Manish Barvaliya

    2011-01-01

    Full Text Available A 3-year-old female patient developed chorea possibly due to an interaction between phenytoin, phenobarbital and clobazam used for generalized tonic clonic seizures. Phenytoin withdrawal resulted in recovery within 24 hours. Post reaction computerized tomography (CT-scan of brain was normal. Combined use of anti-seizure drugs and interactions between them may be responsible for the reaction. Therapeutic drug monitoring is important while prescribing two or more anti-seizure drugs.

  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

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    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. High-signal basal ganglia on T1-weighted images in a patient with Sydenham's chorea

    International Nuclear Information System (INIS)

    We report a 16-year-old girl with Sydenham's chorea. Choreiform movements involved both sides of her body. MRI 2 months after the onset revealed abnormal increased signal on T2-weighted images and enlargement of the caudate and putamen bilaterally. MRI 5 months later showed resolution of the swelling, but with increased signal on T1-weighted images in the putamen, globus pallidus and the head of the caudate nucleus bilaterally, with slightly increased signal intensity on T2-weighted images. (orig.) (orig.)

  20. 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.)

  1. 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

  2. Chorea Bohemica

    Czech Academy of Sciences Publication Activity Database

    Stavělová, Daniela

    Praha : Divadelní ústav, 2001, s. 112. ISBN 80-7008-112-0 Institutional research plan: CEZ:AV0Z9058907 Keywords : folk ensemble, repertory, stage production Subject RIV: AC - Archeology, Anthropology, Ethnology

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

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    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.

  4. 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

  5. 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.

  6. 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...

  7. Are sensory phenomena present in Sydenham's Chorea? Evaluation of 13 cases.

    Science.gov (United States)

    Rodopman-Arman, A; Yazgan, Y; Berkem, M; Eraksoy, M

    2004-08-01

    Sydenham's Chorea (SC) is an early complication of rheumatic fever caused by group A beta-hemolytic streptococcal infection that manifests itself with adventitious choreatic movements and behavioral problems. Sensory phenomena are the premonitory sensory experiences that are described prior to tics. Tic disorders and SC share common underlying neurobiological substrates, yet sensory phenomena have not previously been examined in SC. We aimed to explore the presence of sensory phenomena associated with choreatic movements in children with SC. Thirteen SC patients are examined on measures of sensory phenomena using a semi-structured instrument. 10 out of 13 patients described sensory phenomena. Five of the SC patients described sensory phenomena as "between physical and mental". The patients described physical feelings of tension in joints, tingling and trembling sensations on skin. 69 % of them described movements as "completely involuntary". Sites of choreatic movements that were consistently preceded by sensory phenomena were upper and lower extremities, and trunk. Children may have difficulty in articulating sensory phenomena due to the subjective nature of premonitory feelings in SC. We recommend exploring the sensory experiences that might accompany the choreatic movements in children with SC. PMID:15328565

  8. Autoimmunity against dopamine receptors in neuropsychiatric and movement disorders: a review of Sydenham chorea and beyond.

    Science.gov (United States)

    Cunningham, M W; Cox, C J

    2016-01-01

    Antineuronal autoantibodies are associated with the involuntary movement disorder Sydenham chorea (SC) and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) which are characterized by the acute onset of tics and/or obsessive compulsive disorder (OCD). In SC and PANDAS, autoantibodies signal human neuronal cells and activate calcium calmodulin-dependent protein kinase II (CaMKII). Animal models immunized with group A streptococcal antigens demonstrate autoantibodies against dopamine receptors and concomitantly altered behaviours. Human monoclonal antibodies (mAbs) derived from SC target and signal the dopamine D2L (long) receptor (D2R). Antibodies against D2R were elevated over normal levels in SC and acute-onset PANDAS with small choreiform movements, but were not elevated over normal levels in PANDAS-like chronic tics and OCD. The expression of human SC-derived anti-D2R autoantibody V gene in B cells and serum of transgenic mice demonstrated that the human autoantibody targets dopaminergic neurones in the basal ganglia and other types of neurones in the cortex. Here, we review current evidence supporting the hypothesis that antineuronal antibodies, specifically against dopamine receptors, follow streptococcal exposures and may target dopamine receptors and alter central dopamine pathways leading to movement and neuropsychiatric disorders. PMID:26454143

  9. Autoimmune neuropsychiatric disorders associated with streptococcal infection: Sydenham chorea, PANDAS, and PANDAS variants.

    Science.gov (United States)

    Pavone, Piero; Parano, Enrico; Rizzo, Renata; Trifiletti, Rosario R

    2006-09-01

    Streptococcal infection in children is usually benign and self-limited. In a small percentage of children, prominent neurologic and/or psychiatric sequelae can occur. Sydenham chorea is the best defined and best recognized. PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection) is a well-defined syndrome in which tics (motor and/or vocal) and/or obsessive-compulsive disorder consistently exacerbate in temporal correlation to a group A beta-hemolytic streptococcal infection. PANDAS constitutes a subset of children with tics, Tourette syndrome, and obsessive-compulsive disorder. In addition to strictly defined PANDAS, we and others have recognized several PANDAS variants, including adult-onset variant, a dystonic variant, a myoclonic variant, and a "chronic" PANDAS variant. The nosology and classification of these entities are rapidly evolving. The recognition that some pediatric neurobehavioral syndromes have infectious and/or immunologic triggers points to important new avenues of disease treatment. In this review, we summarize this complex and rapidly evolving area of clinical research. PMID:16970875

  10. 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

  11. 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.

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

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    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.

  13. 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

  14. 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.)

  15. 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.)

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

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    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

  17. 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...

  18. 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.

  19. 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

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

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    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

  1. 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.

    Science.gov (United States)

    Singer, Harvey S; Mascaro-Blanco, Adda; Alvarez, Kathy; Morris-Berry, Christina; Kawikova, Ivana; Ben-Pazi, Hilla; Thompson, Carol B; Ali, Syed F; Kaplan, Edward L; Cunningham, Madeleine W

    2015-01-01

    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 choreiform

  2. 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

  3. 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

  4. The human dorsal spinocerebellar tract: myelinated fiber spectrum and fiber density in controls, autosomal dominant spinocerebellar atrophy, Huntington's chorea, radiation myelopathy, and diseases with peripheral sensory nerve involvement

    Energy Technology Data Exchange (ETDEWEB)

    Ringelstein, E.B.; Schroeder, J.M.

    1982-01-01

    The human dorsal spinocerebellar tract (DSCT) was evaluated morphometrically in 14 control cases of different age and sex using semithin sections of epon-embedded cross sections from the C3, T5, and T10 segments of the spinal cord. A bimodal fiber spectrum was revealed with one peak at 2-3 microns, and a second, broader peak at about 6-8 microns. Fiber density at C3 was 11,188 fibers/mm2 and at T5, 11,156 fibers/mm2. Regression analysis relating fiber density to age disclosed a highly significant loss of myelinated fibers at T5 amounting to about 2.5% per decade. A severe reduction of fiber density and a distinct change in the fiber spectrum with predominant loss of large myelinated fibers were noted in a case of autosomal dominant spinocerebellar atrophy with late onset, and, to a lesser degree, in a case of Huntington's chorea. A subtotal loss of fibers with a persistent normal distribution of fiber sizes was observed rostral to a focus of severe radiation myelopathy, indicating Wallerian degeneration of large numbers of fibers, and a reduction of fiber diameters caudal to the lesion, suggesting retrograde fiber change. By contrast, no primary or transneural changes in the DSCT were detected in six cases of long-term alcoholism, carcinomatous sensory neuropathy, and neurofibromatosis in spite of the involvement of numerous nerve roots.

  5. 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

  6. 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

    Science.gov (United States)

    Singer, Harvey S.; Mascaro-Blanco, Adda; Alvarez, Kathy; Morris-Berry, Christina; Kawikova, Ivana; Ben-Pazi, Hilla; Thompson, Carol B.; Ali, Syed F.; Kaplan, Edward L.; Cunningham, Madeleine W.

    2015-01-01

    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

  7. 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

  8. 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...

  9. 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

  10. 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.

  11. 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...

  12. 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...

  13. Secondary Enuresis Associated with Chorea in a Nigerian Girl

    OpenAIRE

    Ibrahim Aliyu

    2014-01-01

    Enuresis is a distressing psycho-social disorder. It is often a neglected disorder, and its effect on the psychosocial development of a child is often overlooked, especially in those of low socio-economic status. Its exact pathophysiology is not completely understood, but it has been related to the effect of dopamine in the basal ganglia. However, its association with pediatric autoimmune neuropsychiatric disorder associated with streptococci infection is well-established. But, the case of an...

  14. 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...

  15. 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)

  16. 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

  17. 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...

  18. 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.

  19. 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.

  20. Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

    Science.gov (United States)

    Dy, Marisela E; Chang, Florence C F; Jesus, Sol De; Anselm, Irina; Mahant, Neil; Zeilman, Pamela; Rodan, Lance H; Foote, Kelly D; Tan, Wen-Hann; Eskandar, Emad; Sharma, Nutan; Okun, Michael S; Fung, Victor S C; Waugh, Jeff L

    2016-07-01

    ADCY5 mutations have been reported as a cause of early onset hyperkinetic movements associated with delayed motor milestones, hypotonia, and exacerbation during sleep. The movement disorder may be continuous or episodic, and can vary considerably in severity within families and in individuals. The authors report a case series of 3 patients with ADCY5 mutations treated with deep brain stimulation after unsuccessful medication trials. All had extensive imaging, metabolic, and genetic testing prior to confirmation of their ADCY5 mutation. Two of the patients had the c.1252C>T; p.R418W mutation, while the youngest and most severely affected had a de novo c.2080_2088del; p.K694_M696 mutation. All had variable and incomplete, but positive responses to deep brain stimulation. The authors conclude that deep brain stimulation may provide benefit in ADCY5-related movement disorders. Long-term efficacy remains to be confirmed by longitudinal observation. ADCY5 should be considered in the differential diagnosis of early onset hyperkinetic movement disorders, and may respond to deep brain stimulation. PMID:27052971

  1. 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.

  2. 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.

  3. 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.

  4. 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...

  5. 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 ...

  6. Hemichorea-Hemiballism with a Diabetic Patient

    Directory of Open Access Journals (Sweden)

    Yoo Hwan Kim

    2010-05-01

    Full Text Available Chorea and ballism are movement disorders that result from a variety of conditions. They are an uncommon manifestation of diabetes mellitus. We report a 52-year-old diabetic man who presented with acute onset chorea-ballism with a putaminal high-signal-intensity lesion on T1-weighted magnetic resonance imaging (MRI.

  7. 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. ...

  8. 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...

  9. 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);

  10. 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.

  11. 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...

  12. 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.)

  13. 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...

  14. 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...

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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.

  20. 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

  1. 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.

  2. 26 CFR 1.28-1 - Credit for clinical testing expenses for certain drugs for rare diseases or conditions.

    Science.gov (United States)

    2010-04-01

    ... muscular dystrophies; Huntington's disease, a hereditary chorea; myoclonus; Tourette's syndrome; and... taxpayer's tax liability for the taxable year (as determined under paragraph (d)(2) of this section). (b... the clinical testing under the agreement providing for the clinical testing the taxpayer's...

  3. 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.

  4. 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

  5. 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.

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

    OpenAIRE

    Kumawat B; Sharma C; Tripathi Gautam; Ralot Tarun; Dixit Shailesh

    2007-01-01

    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 ...

  7. A Myoclonus Case Related to Carbon Monoxide Poisoning

    OpenAIRE

    Özışık, Handan Işın; Kızkın, Sibel; Cemal ÖZCAN; Bölük, Ayhan; Çalışkan, Özden

    2005-01-01

    Delayed neurological findings due to carbon monoxide poisoning are changes in cognition and personality, psychotic behavior and parkinsonism. Rarely, these patients have movement disorders such dystonia, chorea and myoclonus. In this case study, we reported a case in which myoclonus appeared in the late stage of CO poisoning. Key words: Carbon monoxide poisoning, Movement disorders, Myoclonus.

  8. 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.

  9. 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

  10. 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)

  11. 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

  12. 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

  13. 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.

  14. 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.

  15. 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.

  16. Max Bielschowsky (1869–1940)

    OpenAIRE

    Stahnisch, F. W.

    2014-01-01

    Berlin neurologist and neurohistologist Max Bielschowsky counts among the most innovative microanatomical researchers at the beginning of the twentieth century. Although being quite underrated in the history of neurology today, Bielschowsky contributed substantially to the understanding of neurohereditary pathologies, such as Alzheimer’s disease, Parkinsonism, and Huntington’s chorea, as well as the assessment of structural changes in several movement disorders. Working with other leading res...

  17. 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...

  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. 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...

  20. FTL mutation in a Chinese pedigree with neuroferritinopathy.

    Science.gov (United States)

    Ni, Wang; Li, Hong-Fu; Zheng, Yi-Cen; Wu, Zhi-Ying

    2016-06-01

    Neuroferritinopathy is a rare autosomal dominant movement disorder caused by mutations of the FTL gene.(1) It is clinically characterized by adult-onset progressive extrapyramidal syndrome, including chorea, dystonia, and parkinsonism.(2) Brain MRI demonstrates the deposition of iron and ferritin in the basal ganglia.(3) To date, several Caucasian families and 2 Japanese families have been reported worldwide.(2) We present a Chinese neuroferritinopathy pedigree with 5 patients and the FTL mutation. PMID:27158664

  1. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

    OpenAIRE

    Costa, Maria do Carmo; Teixeira-Castro, Andreia; Constante, Marco; Magalhães, Marina; Magalhães, Paula; Cerqueira, Joana; Vale, José; Passão, Vitorina; Barbosa, Célia; Robalo, Conceição; Coutinho, Paula; Barros, José; Santos, Manuela M.; Sequeiros, Jorge; Maciel, Patrícia

    2006-01-01

    Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterised by chorea, cognitive impairment, dementia and personality changes, caused by the expansion of a CAG repeat in the HD gene. Often, patients with a similar clinical presentation do not carry expansions of the CAG repeat in this gene [Huntington disease-like (HDL) patients]. We report the genetic analysis of 107 Portuguese patients with an HDL phenotype. The HDL genes PRNP and JPH3, encoding the prion prote...

  2. Preclinical and Clinical Investigations of Mood Stabilizers for Huntington's Disease: What Have We Learned?

    OpenAIRE

    Scheuing, Lisa; Chiu, Chi-Tso; Liao, Hsiao-Mei; Linares, Gabriel R.; Chuang, De-Maw

    2014-01-01

    Huntington's disease (HD) is a lethal, autosomal dominant neurodegenerative disorder caused by CAG repeat expansions at exon 1 of the huntingtin (Htt) gene, which encodes for a mutant huntingtin protein (mHtt). Prominent symptoms of HD include motor dysfunction, characterized by chorea; psychiatric disturbances such as mood and personality changes; and cognitive decline that may lead to dementia. Pathologically multiple complex processes and pathways are involved in the development of HD, inc...

  3. 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...

  4. 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...

  5. 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...

  6. 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...

  7. 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...

  8. 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...

  9. 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...

  10. 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...

  11. 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...

  12. 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...

  13. 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...

  14. 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...

  15. 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...

  16. 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...

  17. 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...

  18. 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 ...

  19. 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

  20. 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...

  1. 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.

  2. Accidental haloperidol poisoning in children

    OpenAIRE

    Gajre, Mona P.; Dimple Jain; Alka Jadhav

    2012-01-01

    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 park...

  3. Tetrabenazine-induced oculogyric crisis – a rare complication in the treatment of Gilles de la Tourette syndrome

    OpenAIRE

    Janik, Piotr

    2016-01-01

    Piotr Janik,1 Monika Figura1,2 1Department of Neurology, Anna Gostynska Wolski Hospital, 2Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland Abstract: Tetrabenazine is used in the treatment of chorea, tardive dyskinesia, tics, and dystonia. It rarely causes acute eyeball dystonia and the description of this complication in Gilles de la Tourette syndrome is limited. We provide a description of an acute oculogyric crisis caused by tetrabenazine i...

  4. Tetrabenazine-induced oculogyric crisis – a rare complication in the treatment of Gilles de la Tourette syndrome

    OpenAIRE

    Janik P; Figura M

    2016-01-01

    Piotr Janik,1 Monika Figura1,2 1Department of Neurology, Anna Gostynska Wolski Hospital, 2Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland Abstract: Tetrabenazine is used in the treatment of chorea, tardive dyskinesia, tics, and dystonia. It rarely causes acute eyeball dystonia and the description of this complication in Gilles de la Tourette syndrome is limited. We provide a description of an acute oculogyric crisis caused by tetrabenazine i...

  5. 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...

  6. 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...

  7. Huntington’s disease masquerading as spinocerebellar ataxia

    OpenAIRE

    Rodríguez-Quiroga, Sergio Alejandro; Gonzalez-Morón, Dolores; Garretto, Nelida; Kauffman, Marcelo Andres

    2013-01-01

    Huntington’s disease (HD) is a neurodegenerative disorder of the central nervous system characterised by the presence of choreic abnormal movements, behavioural or psychiatric disturbances and dementia. Noteworthy, despite atypical motor symptoms other than chorea have been reported as initial presentation in some patients, a very few number of HD patients, presenting at onset mostly cerebellar dysfunction masquerading dominant spinocerebellar ataxias (SCA), were occasionally reported. We rep...

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

    OpenAIRE

    Maia Alex S. S. Freire; Barbosa Egberto Reis; Menezes Paulo Rossi; Miguel Filho Eurípedes C.

    1999-01-01

    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 ro...

  9. Evidence of thalamic disinhibition in patients with hemichorea: semiquantitative analysis using SPECT

    OpenAIRE

    J. Kim; Lee, K.; Kim, Y; Kim, B.; Chung, Y.; Chung, S.

    2002-01-01

    Objectives: Hemichorea sometimes occurs after lesions that selectively involve the caudate nucleus, putamen, and globus pallidus. Some reports have hypothesised that the loss of subthalamic nucleus control on the internal segment of the globus pallidus, followed by the disinhibition of the thalamus may contribute to chorea. However, the pathophysiology is poorly understood. Therefore, clinicoradiological localisation was evaluated and a comparison of the haemodynamic status of the basal gangl...

  10. Relationship between obsessive-compulsive disorders and diseases affecting primarily the basal ganglia Relação entre transtorno obsessivo-compulsivo e doenças neurológicas dos gânglios da base

    OpenAIRE

    Alex S. S. Freire Maia; Egberto Reis Barbosa; Paulo Rossi Menezes; Eurípedes C. Miguel Filho

    1999-01-01

    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 ro...

  11. 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

  12. Autoimmune basal ganglia disorders.

    Science.gov (United States)

    Dale, Russell C; Brilot, Fabienne

    2012-11-01

    The basal ganglia are deep nuclei in the brain that include the caudate, putamen, globus pallidus, and substantia nigra. Pathological processes involving the basal ganglia often result in disorders of movement and behavior. A number of different autoimmune disorders predominantly involve the basal ganglia and can result in movement and psychiatric disorders. The classic basal ganglia autoimmune disorder is Sydenham chorea, a poststreptococcal neuropsychiatric disorder. Resurgence in the interest in Sydenham chorea is the result of the descriptions of other poststreptococcal neuropsychiatric disorders including tics and obsessive-compulsive disorder, broadly termed pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection. Encephalitic processes affecting the basal ganglia are also described including the syndromes basal ganglia encephalitis, encephalitis lethargica, and bilateral striatal necrosis. Last, systemic autoimmune disorders such as systemic lupus erythematosus and antiphospholipid syndrome can result in chorea or parkinsonism. Using paradigms learned from other autoantibody associated disorders, the authors discuss the autoantibody hypothesis and the role of systemic inflammation in autoimmune basal ganglia disorders. Identification of these entities is important as the clinician has an increasing therapeutic repertoire to modulate or suppress the aberrant immune system. PMID:22832771

  13. 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

  14. Rheumatic fever, autoimmunity, and molecular mimicry: the streptococcal connection.

    Science.gov (United States)

    Cunningham, Madeleine W

    2014-01-01

    The group A streptococcus, Streptococcus pyogenes, and its link to autoimmune sequelae, has acquired a new level of understanding. Studies support the hypothesis that molecular mimicry between the group A streptococcus and heart or brain are important in directing immune responses in rheumatic fever. Rheumatic carditis, Sydenham chorea and a new group of behavioral disorders called pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections are reviewed with consideration of autoantibody and T cell responses and the role of molecular mimicry between the heart, brain and group A streptococcus as well as how immune responses contribute to pathogenic mechanisms in disease. In rheumatic carditis, studies have investigated human monoclonal autoantibodies and T cell clones for their crossreactivity and their mechanisms leading to valve damage in rheumatic heart disease. Although studies of human and animal sera from group A streptococcal diseases or immunization models have been crucial in providing clues to molecular mimicry and its role in the pathogenesis of rheumatic fever, study of human monoclonal autoantibodies have provided important insights into how antibodies against the valve may activate the valve endothelium and lead to T cell infiltration. Passive transfer of anti-streptococcal T cell lines in a rat model of rheumatic carditis illustrates effects of CD4+ T cells on the valve. Although Sydenham chorea has been known as the neurological manifestation of rheumatic fever for decades, the combination of autoimmunity and behavior is a relatively new concept linking brain, behavior and neuropsychiatric disorders with streptococcal infections. In Sydenham chorea, human mAbs and their expression in transgenic mice have linked autoimmunity to central dopamine pathways as well as dopamine receptors and dopaminergic neurons in basal ganglia. Taken together, the studies reviewed provide a basis for understanding streptococcal sequelae and

  15. Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Ruth H. Walker

    2015-05-01

    Full Text Available There have been significant advances in neuroacanthocytosis (NA syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here–chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, and pantothenate kinase- associated neurodegeneration. In the first two, acanthocytosis is a frequent, although not invariable, finding; in the second two, it occurs in approximately 10% of patients. Degeneration affecting the basal ganglia is the key neuropathologic finding, thus the clinical presentations can be remarkably similar. The characteristic phenotype comprises a variety of movement disorders, including chorea, dystonia, and parkinsonism, and also psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. The age of onset, inheritance patterns, and ethnic background differ in each condition, providing diagnostic clues. Other investigations, including routine blood testing and neuroimaging can be informative. Genetic diagnosis, if available, provides a definitive diagnosis, and is important for genetic counseling, and hopefully molecular therapies in the future. In this article I provide a historical perspective on each NA syndrome. The first 3 disorders, chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, are discussed in detail, with a comprehensive review of the literature to date for each, while pantothenate kinase-associated neurodegeneration is presented in summary, as this disorder has recently been reviewed in this journal. Therapy for all of these diseases is, at present, purely symptomatic.

  16. A case of PANDAS treated with tetrabenazine and tonsillectomy.

    Science.gov (United States)

    Fusco, Francesca Romana; Pompa, Alessandra; Bernardi, Giorgio; Ottaviani, Fabrizio; Giampà, Carmela; Laurenti, Daunia; Morello, Maria; Bernardini, Sergio; Nuccetelli, Marzia; Sabatini, Umberto; Paolucci, Stefano

    2010-05-01

    PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) is a rare clinical syndrome characterized by the presence of tics, Tourette syndrome, obsessive-compulsive disorder, or chorea in the context of an immediately precedent streptococcal infection. In this report, we describe the case of an 11-year-old boy who developed PANDAS with severe choreic movements. The criteria for PANDAS diagnosis were met. Moreover, serum antibrain antibodies were present. The patient was initially treated with tetrabenazine 12.5 mg twice daily with remission of the neurological symptoms. Subsequently, the patient underwent tonsillectomy and has been asymptomatic since, with antistreptolysin O titer levels in range. PMID:20207613

  17. 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.

  18. 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

  19. 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. ...

  20. 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)

  1. 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...

  2. 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.

  3. 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

  4. 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 ...

  5. Transtorno obsessivo-compulsivo: aspectos neuroimunológicos

    Directory of Open Access Journals (Sweden)

    Mercadante Marcos T

    2001-01-01

    Full Text Available This article discusses issues related to the hypotheses regarding the existence of immune mechanisms underlying the pathophysiology of a subgroup of patients with obsessive-compulsive disorder and/or Tourette's syndrome. Though developed from the studies on Sydenham's chorea, other concepts about the immune system regulation hypotheses still need further investigation. The proposition of PANDAS, the pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, combined with the results obtained with plasma exchange procedure, which showed a remarkable improvement of the symptoms in children with obsessive-compulsive disorder and/or Tourette's syndrome, have given additional support to this model.

  6. 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

  7. 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

  8. Two cases of hemichorea-hemiballism with nonketotic hyperglycemia: a new point of view.

    Science.gov (United States)

    Battisti, Carla; Forte, Francesca; Rubenni, Elisa; Dotti, Maria Teresa; Bartali, Anna; Gennari, Paola; Federico, Antonio; Cerase, Alfonso

    2009-06-01

    Hemichorea-hemiballism (HCHB) is an usually continuous, nonpatterned, involuntary movement disorder caused by basal ganglia dysfunction, commonly due to a vascular lesion, described in nonketotic hyperglycemic patients. Particular computed tomography and magnetic resonance imaging findings have been described. The pathogenic mechanism of chorea arising during hyperglycemia and the nature of neuroimaging findings are unclear. In this paper we describe two elderly women with onset of HCHB during a hyperglycemic episode. The symptoms persisted in one of them after recovery of normal glycemia. The pathophysiological mechanism of the disease is discussed in the light of clinical and neuroradiological follow-up. PMID:19305947

  9. 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.

  10. Rhabdomyolysis Related to Dyskinesia in Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Hesna Bektaş

    2014-04-01

    Full Text Available Rhabdomyolysis is a life threatening syndrome. It accounts for an estimated 8% to 15% of cases of acute renal failure and is associated with a mortality rate of 5%. In movement disorders, various causes of rhabdomyolysis have been reported including status dystonicus, myoclonus, generalized chorea and parkinsonism-hyperprexia syndrome in Parkinson’s disease (PD. Levodopa-induced dyskinesia leading to rhabdomyolysis is a very rare phenomenon in PD. We report a case of 76 years old PD patient with dyskinesia and rhabdomyolysis.

  11. 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.

  12. A Case of Vascular Hemichorea Responding to Topiramate

    Directory of Open Access Journals (Sweden)

    Jee-Ae Kim

    2009-10-01

    Full Text Available Although vascular chorea often comes into remission spontaneously, a few patients may remain with persistent movement disorder. Most movements respond well to neuroleptics as well as other antidopaminergic drugs, but some patients show poor responses to those neuroleptics. Topiramate is a widely used of broad-spectrum anticonvulsant possessing a complex mechanism of action. It has been proven to enhance gamma-aminobutyrate acid activity and to be effective in the control of other movement disorders. We describe a 63-year-old woman with intractable vascular hemichorea which was controlled with anti-convulsant, topiramate.

  13. Autoimmunity and the basal ganglia: new insights into old diseases.

    Science.gov (United States)

    Dale, R C

    2003-03-01

    Sydenham's chorea (SC) occurs weeks or months after Group A streptococcal infection, and is characterized by involuntary, purposeless movements of the limbs, in addition to behavioural alteration. There is a body of evidence which suggests that SC is an immune-mediated brain disorder with regional localization to the basal ganglia. Recent reports have suggested that the spectrum of post-streptococcal CNS disease is broader than chorea alone, and includes other hyperkinetic movement disorders (tics, dystonia and myoclonus). In addition, there are high rates of behavioural sequelae, particularly emotional disorders such as obsessive-compulsive disorder, anxiety and depression. These findings have lead to the hypothesis that similar immune-mediated basal ganglia processes may be operating in common neuropsychiatric disease such as tic disorders, Tourette syndrome and obsessive-compulsive disorder. This review analyses the historical aspects of post-streptococcal CNS disease, and the recent immunological studies which have addressed the hypothesis that common neuropsychiatric disorders may be secondary to basal ganglia autoimmunity. PMID:12615982

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Matsuoka, Yukihiko; Yamamoto, Hiroko; Sobue, Itsuro.

    1988-05-01

    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.).

  16. Neurological mitochondrial cytopathies.

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    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.

  17. 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.)

  18. 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.

  19. 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.)

  20. 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

  1. 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

  2. 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.

  3. 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

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

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    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

  5. Restless legs syndrome: association with streptococcal or mycoplasma infection.

    Science.gov (United States)

    Matsuo, Muneaki; Tsuchiya, Katsunori; Hamasaki, Yuhei; Singer, Harvey S

    2004-08-01

    Group A beta-hemolytic streptococcal infections have been reported to cause neuropsychiatric symptoms, such as chorea, tics, and obsessive-compulsive disorder, presumably through autoimmune damage to basal ganglia. Mycoplasma pneumoniae infections have also been reported to cause damage to the basal ganglia. Restless legs syndrome is a movement disorder with focal restlessness, an irresistible desire to move, and exacerbation by long periods of sitting or lying. We present three children with transient restless legs syndrome-like symptoms possibly associated with group A beta-hemolytic streptococcal infection or Mycoplasma pneumoniae infection. One of three patients had persistently elevated enzyme-linked immunosorbent optical density values against human caudate and putamen. PMID:15301831

  6. PANDAS (Paediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection).

    Science.gov (United States)

    Lynch, N E; Deiratany, S; Webb, D W; McMenamin, J B

    2006-05-01

    PANDAS (Paediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection) is a rare condition first described in 1998. It describes the presence of obsessive-compulsive disorder (OCD) or tics with an episodic course, and a temporal relationship to Group A beta haemolytic streptococcal infection (GABHS). Recurrent episodes can be disruptive and upsetting for a child, but the best way to treat the condition has yet to be established. Penicillin prophylaxis has not proved effective, and other therapies are experimental. There is some evidence in the literature to support the role of tonsillectomy in improving the condition. We report a case of a 6-year-old boy who presented with tic and hemi-chorea associated with GABHS throat infection. He had a recurrence of his symptoms associated with a further GABHS infection, but has had no further symptoms following tonsillectomy. This case report lends further evidence to the role of tonsillectomy in the management of PANDAS. PMID:16892924

  7. 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. PMID:12082557

  8. A Case of Fahr Syndrome Presenting with Seizures

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    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.

  9. 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.

  10. 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

  11. 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 ...

  12. Psychosis with Huntington's disease: role of antipsychotic medications.

    Science.gov (United States)

    Ding, Jonathan; Gadit, Amin Muhammad

    2014-01-01

    This is a case of a 60-year-old man who presented with a 6-month history of increasing agitation and emotional volatility. His family brought him to the emergency room as they were concerned about his threatening and aggressive behaviour. The patient was initially incoherent and uncooperative. During the interview, the patient's family revealed that he had a previous diagnosis of Huntington's disease; there was also a family history of personality changes preceding Huntington's chorea. The patient was admitted to the psychiatric inpatient unit and started on low-dose risperidone. Consequently, there was marked improvement in his symptoms. Subsequent cognitive tests revealed deficits in multiple domains. After a month, the patient was discharged to a community home in stable state. PMID:25139915

  13. 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.)

  14. 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.)

  15. 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

  16. 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)

  17. 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

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

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    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".

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

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    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.

  20. 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

  1. Neurological manifestations of Ehlers-Danlos syndrome

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    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.

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

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    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.

  3. Gowers and Osler: good friends 'all through'.

    Science.gov (United States)

    Boes, C J

    2016-12-01

    William Gowers and William Osler first met in 1878, and Osler visited Gowers often when in London. Osler dedicated his book On Chorea and Choreiform Affections to Gowers in 1894, addressing himself as Gowers' sincere friend. Two warm letters between Osler and Gowers exist in the Osler Library Archives, highlighting their strong friendship, and Gowers' son Ernest wrote Osler a letter after the death of his father. Referring to the relationship between William Osler and William Gowers, he noted that Osler had indeed been a good friend to him all through. Osler wrote and edited the first edition of his textbook from 1890 through early 1892, and was influenced by Gowers' Manual of Diseases of the Nervous System. In 1913, Osler commented that Gowers had ataxic paraplegia. Macdonald Critchley disagreed, and felt that Gowers had generalised cerebrovascular degeneration. Osler and Gowers were close friends, and this friendship was mutually beneficial. PMID:27092371

  4. Tetrabenazine-induced oculogyric crisis - a rare complication in the treatment of Gilles de la Tourette syndrome.

    Science.gov (United States)

    Janik, Piotr; Figura, Monika

    2016-01-01

    Tetrabenazine is used in the treatment of chorea, tardive dyskinesia, tics, and dystonia. It rarely causes acute eyeball dystonia and the description of this complication in Gilles de la Tourette syndrome is limited. We provide a description of an acute oculogyric crisis caused by tetrabenazine in a patient with severe tics. The patient had never developed acute dystonic reactions, although he was previously exposed to numerous dopamine receptor-blocking agents. After 8 days of therapy with tetrabenazine at a dose of 62.5 mg daily, the patient developed involuntary movement of the eyeballs. Withdrawal of tetrabenazine caused resolution of all symptoms after a week. The purpose of this description is to draw attention to the potential of tetrabenazine to induce acute oculogyric crisis as well as the difficulty of differentiating drug-induced dystonia from dystonic tics in patients with Gilles de la Tourette syndrome. PMID:26955276

  5. Tetrabenazine-induced oculogyric crisis – a rare complication in the treatment of Gilles de la Tourette syndrome

    Science.gov (United States)

    Janik, Piotr; Figura, Monika

    2016-01-01

    Tetrabenazine is used in the treatment of chorea, tardive dyskinesia, tics, and dystonia. It rarely causes acute eyeball dystonia and the description of this complication in Gilles de la Tourette syndrome is limited. We provide a description of an acute oculogyric crisis caused by tetrabenazine in a patient with severe tics. The patient had never developed acute dystonic reactions, although he was previously exposed to numerous dopamine receptor-blocking agents. After 8 days of therapy with tetrabenazine at a dose of 62.5 mg daily, the patient developed involuntary movement of the eyeballs. Withdrawal of tetrabenazine caused resolution of all symptoms after a week. The purpose of this description is to draw attention to the potential of tetrabenazine to induce acute oculogyric crisis as well as the difficulty of differentiating drug-induced dystonia from dystonic tics in patients with Gilles de la Tourette syndrome. PMID:26955276

  6. 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

  7. Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus in identical siblings.

    Science.gov (United States)

    Lewin, Adam B; Storch, Eric A; Murphy, Tanya K

    2011-04-01

    Termed pediatric autoimmune neuropsychiatric disorders associated with Streptococcus (PANDAS), these cases of childhood-onset obsessive compulsive disorder and tic disorders resemble the presentation of Sydenham chorea, in that they have an acute onset following a group A beta-hemolytic streptococcal infection (group A Streptococcus), with accompanying neurological signs, and an episodic or sawtooth course. Familial associations of this subgroup of patients remain understudied. This report provides phenotypic descriptions of three youth with PANDAS as well as their genetically identical siblings (in two cases of twins and one case of triplets). These cases highlight the potential for environmental influences for discordant presentations in genetically identical siblings. Despite identical genetics, presentations showed marked variation across siblings (from a full PANDAS presentation to asymptomatic). Further research into environmentally driven influences such as postinfectious molecular mimicry and epigenetic factors that may influence the manifestation of these pediatric neuropsychiatric disorders will promote our understanding of their prevention and treatment. PMID:21486169

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

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    Wooseok Im

    2014-04-01

    Full Text Available 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 replacement. Although stem cell studies show that cell transplantation provides cellular improvement around lesions in in vivo models, further work is required to elucidate some issues before the clinical application of stem cells. These issues include the precise mechanism of action, delivery method, toxicity and safety. With a focus on HD, this review summarizes cell therapy strategies and the paracrine effect of stem cells.

  9. 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)

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

    Directory of Open Access Journals (Sweden)

    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.

  11. 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......Background: Sleep disorders including insomnia, movements during sleep, and daytime sleepiness are common but poorly studied in Huntington disease (HD). Objective: To evaluate the HD sleep-wake phenotype (including abnormal motor activity during sleep) in patients with various HD stages......: 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...

  12. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.

    Science.gov (United States)

    Neville, B G R; Parascandalo, R; Farrugia, R; Felice, A

    2005-10-01

    This study presents the clinical findings on seven children from Malta (population 385,000). All of them had early motor delay and a significant degree of cognitive impairment. Diurnal variation of the motor impairments was clear in six out of seven of the subjects and oculogyric crises occurred from an early stage also in six out of the seven. Five out of seven had clear evidence of dystonia but the early picture was dominated by hypotonia in five. Two had early Parkinsonian tremor and chorea was seen in four, although in two this was attributable to the use of L-dopa. Three had early bulbar involvement. In all, although minor motor problems persisted, the response to L-dopa was dramatic and there was a need to balance improvement in dystonia against aggravation of chorea. The majority were not able to walk until they were treated. Increased doses of L-dopa were required in hot weather, to which they were sensitive. Despite a good response of improved motor ability and abolition of oculogyric crises, there was no obvious change in cognitive function with learning remaining in the moderate impairment range. This report widens the phenotype of dopa-responsive motor disorders and the range of young children with primary motor delay (cerebral palsy) who need a clinical trial of L-dopa. All of the subjects had the same novel mutation in the tetrahydrobiopterin pathway involving sepiapterin reductase, and no abnormality in the gene encoding guanosine triphosphate cyclohydrolase 1. Clinically and molecularly the condition shows autosomal recessive inheritance. PMID:16049044

  13. Preclinical and clinical investigations of mood stabilizers for Huntington's disease: what have we learned?

    Science.gov (United States)

    Scheuing, Lisa; Chiu, Chi-Tso; Liao, Hsiao-Mei; Linares, Gabriel R; Chuang, De-Maw

    2014-01-01

    Huntington's disease (HD) is a lethal, autosomal dominant neurodegenerative disorder caused by CAG repeat expansions at exon 1 of the huntingtin (Htt) gene, which encodes for a mutant huntingtin protein (mHtt). Prominent symptoms of HD include motor dysfunction, characterized by chorea; psychiatric disturbances such as mood and personality changes; and cognitive decline that may lead to dementia. Pathologically multiple complex processes and pathways are involved in the development of HD, including selective loss of neurons in the striatum and cortex, dysregulation of cellular autophagy, mitochondrial dysfunction, decreased neurotrophic and growth factor levels, and aberrant regulation of gene expression and epigenetic patterns. No cure for HD presently exists, nor are there drugs that can halt the progression of this devastating disease. Therefore, the need to discover neuroprotective modalities to combat HD is critical. In basic and preclinical studies using cellular and animal HD models, the mood stabilizers lithium and valproic acid (VPA) have shown multiple beneficial effects, including behavioral and motor improvement, enhanced neuroprotection, and lifespan extension. Recent studies in transgenic HD mice support the notion that combined lithium/VPA treatment is more effective than treatment with either drug alone. In humans, several clinical studies of HD patients found that lithium treatment improved mood, and that VPA treatment both stabilized mood and moderately reduced chorea. In contrast, other studies observed that the hallmark features of HD were unaffected by treatment with either lithium or VPA. The current review discusses preclinical and clinical investigations of the beneficial effects of lithium and VPA on HD pathophysiology. PMID:25285035

  14. 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)

  15. The behavioural and motor consequences of focal lesions of the basal ganglia in man.

    Science.gov (United States)

    Bhatia, K P; Marsden, C D

    1994-08-01

    The behavioural and movement disorders reported in 240 patients described in the literature with lesions affecting the caudate nucleus, putamen and the globus pallidus (lentiform nucleus) have been analysed. Reports were classified into two groups: small or isolated lesions involving the said nuclei alone; and large lesions with additional involvement of the adjacent internal capsule and/or periventricular white matter. Amongst the 240 cases, dystonia was the most frequent movement disorder recorded (36%); chorea (8%) and parkinsonism (6%) or dystonia-parkinsonism (3%) were uncommon. The commonest behavioural disturbance was the syndrome of abulia (apathy with loss of initiative and of spontaneous thought and emotional responses) (13%); disinhibition was rare (4%). Confusion usually was associated with intracerebral haemorrhage and depression was a relatively non-specific finding. Aphasia was extremely rare with lesions confined to these basal ganglia structures. Lesions of the caudate nucleus rarely caused motor disorders but were more likely to cause behavioural problems. Chorea has been described in only 6% of those with caudate lesions, and dystonia in only 9%. The most significant behavioural disturbance described in 28% of those with caudate lesions was the syndrome of abulia, sometimes alternating with disinhibition (11%). Lesions of the lentiform nuclei rarely caused abulia (10%) and did not produce disinhibition, but they commonly caused dystonia (49%), particularly when the putamen was involved (63%). Bilateral lesions of the lentiform nuclei, either of the globus pallidus or of the putamen, caused parkinsonism (19%) or dystonia-parkinsonism (6%) infrequently. The prominence of the behavioural disturbance of abulia with caudate lesions emphasizes the more complex cognitive role of this basal ganglia structure. The frequent occurrence of dystonia and less commonly of parkinsonism with lentiform lesions emphasize the motor roles of putamen and globus

  16. 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

  17. 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

  18. Childhood brucellosis--a microbiological, epidemiological and clinical study.

    Science.gov (United States)

    Mantur, B G; Akki, A S; Mangalgi, Smita S; Patil, S V; Gobbur, R H; Peerapur, B V

    2004-06-01

    A total of 5726 blood specimens (from children aged 14 years and younger) were studied for the serological evidence of brucellosis. Ninety-three (1.6 per cent) showed diagnostic agglutinin titres with a geometric mean titre of 403 (SD +/- 547). Forty-three (59.7 per cent) blood specimens yielded the growth of Brucella melitensis. Thirty-nine patients (41.93 per cent) were shepherds, who constituted the major occupational group affected in the present series. More than 60 per cent of the patients had a history of both consumption of fresh goat's milk and close animal contact. The habit of consuming fresh goat's milk to obtain relief from chronic ailments was noted in nine patients. Seventy-three (78.49 per cent) were males and 20 (21.51 per cent) were females, with a male to female ratio of 3:1. The disease occurred mainly in the school age group (mean age 10.3 years). All the patients had an acute history of less than 2 months. Forty-nine (52.68 per cent) patients presented with persistent fever, 19 (20.43 per cent) with joint pain, and the rest with a combination of fever and joint pain with and without low backache, fever being the commonest complaint. One case presented with involuntary movements of limbs alone and the other with burning feet only. Pityriasis alba was the consistent physical finding, with fever in the majority of the patients. The major joint found to be involved was the knee (52.77 per cent). The synovial fluid obtained from the knee joint of five patients demonstrated Brucella agglutinins and also three grew B. melitensis. Eight patients presented with complications that included skin lesions (3), carditis (2), neurobrucellosis such as chorea (1), peripheral neuritis (1), and meningitis (1). Brucella melitensis biotype 1 was successfully isolated from the papular eruption of one out of three cases who presented with skin lesions. To our knowledge this is the fourth confirmed isolation of B. melitensis from skin lesions with brucellosis

  19. 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

  20. 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

  1. 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.

  2. Evaluation of Anti-anxiety Activity of Actaea spicata Linn.

    Directory of Open Access Journals (Sweden)

    Reecha Madaan

    2011-01-01

    Full Text Available Actaea spicata Linn. (Ranunculaceae has been traditionally used for the treatment of various ailments such as rheumatism, inflammation, nerve diseases, lumbago, scrofula and chorea. Despite a long tradition of use, no systematic phytochemical and pharmacological work has been carried out on this potential plant. Thus, A. spicata was subjected to preliminary anti-anxiety screening studies, with a view to ascertain the verity of its traditional use as an anxiolytic. In the present investigation, roots of the plant were extracted using solvents in order of increasing polarity viz., petroleum ether (60-80C, chloroform, methanol and distilled water. All the crude extracts were evaluated for anti-anxiety activity in mice using elevated plus maze apparatus. Among all these extracts, only methanol extract exhibited significant anti-anxiety activity at a dose of 100 mg/kg in mice with respect to control as well as standard (diazepam, 2 mg/kg. Phytochemical screening showed presence of alkaloids and polyphenols in methanol extract of A. spicata. Thus, Specific methods were adopted to extract total alkaloidal and polyphenol fractions from the plant material and methanol extract of plant, respectively. Polyphenol fraction exhibited significant anxiolytic activity at the dose of 50 mg/kg, while alkaloidal fraction was found to be devoid of any activity.

  3. 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

  4. [Streptococcus pyogenes and the brain: living with the enemy].

    Science.gov (United States)

    Dale, R C

    Streptococcus pyogenes (or group A beta hemolytic streptococcus) is a pathogenic bacterium that can give rise to a range of invasive and autoimmune diseases, although it is more widely known as the cause of tonsillitis. It is particularly interesting to note that this germ only causes disease in humans. For many years it has been acknowledged that it can cause an autoimmune brain disease (Sydenham s chorea). Yet, the spectrum of post streptococcal brain disorders has recently been extended to include other movement disorders such as tics or dystonia. A number of systematic psychiatric studies have shown that certain emotional disorders generally accompany the movement disorder (particularly, obsessive compulsive disorder). The proposed pathogenetic mechanism is that of a neuronal dysfunction in which antibodies play a mediating role. The antibodies that are produced after the streptococcal infection cross react with neuronal proteins, and more especially so in individuals with a propensity. This represents a possible model of immunological mimicry and its potential importance with respect to certain idiopathic disorders such as Tourette syndrome and obsessive compulsive disorder. PMID:12861520

  5. Tourette's Syndrome Treated with ACTH and Prednisone: Report of Two Cases.

    Science.gov (United States)

    Matarazzo, E B

    1992-01-01

    ABSTRACT Two cases of Tourette's syndrome in young boys presented with initial symptoms that coincided with the onset of an infectious disease. Standard treatment with neuroleptics yielded weak therapeutic effects, and provoked significant adverse effects at low doses, in both cases. Based on additional clinical and laboratory findings, it was hypothesized that an allergic process was affecting immunological mechanisms of the brain, and the patients were treated with ACTH and prednisone. In one case, this treatment led to remission of the tic symptoms, which remained improved through lengthy follow up. In the other case, tics resurfaced repeatedly at times of demonstrable recurrent bacterial infections, and required multiple courses of ACTH and prednisone to obtain a complete remission of the symptoms. These findings may provide a new area for research into the etiology and treatment of Tourette's syndrome. The presence of streptococcal infections in these two cases of TS is reminiscent of the findings of antistriatal antibodies in Sydenham's chorea produced by streptococcus, and raises the speculation that some cases of Tourette's syndrome may represent an autoimmune phenomenon directed to parts of the central nervous system following infection and may respond to treatments with hormones that have an anti-allergenic action. PMID:19630633

  6. A preliminary study of the frequency of anti-basal ganglia antibodies and streptococcal infection in attention deficit/hyperactivity disorder.

    Science.gov (United States)

    Sanchez-Carpintero, Rocio; Albesa, Sergio Aguilera; Crespo, Nerea; Villoslada, Pablo; Narbona, Juan

    2009-07-01

    Attention deficit/hyperactivity disorder (ADHD) is often present in patients with post-streptococcal neuropsychiatric disorders such as Sydenham's chorea and PANDAS, in which anti-basal ganglia antibodies (ABGA) have been frequently found. Our study investigates the hypothesis that pharyngeal group A beta-hemolytic streptococcus (GABHS) infections and serum ABGA are more frequent in children with ADHD non-comorbid (nc-ADHD) with obsessive-compulsive disorder or tics than in controls. We compared 22 children with nc-ADHD (DSM-IV-TR) and 22 healthy controls matched by age, gender and season of sample collection, for the frequency of recent GABHS infection and the presence of ABGA. Eleven out of 22 children (51%) with nc-ADHD showed evidence of GABHS infection compared to three out of 22 (14%) controls (P = 0.007). We found positive ABGA in one ADHD subject (4%) and in one control (4%). This preliminary study indicates that frequency of ABGA in children with nc-ADHD does not differ from that in matched controls, despite the fact that our ADHD patients had had more recent GABHS infections than the controls. This suggests that ABGA do not have a role in the pathogenesis of nc-ADHD. PMID:19288046

  7. [PANDAS: a possible model for adult OCD pathogenesis].

    Science.gov (United States)

    Marconi, Daniela; Limpido, Lucilla; Bersani, Iliana; Giordano, Annalisa; Bersani, Giuseppe

    2009-01-01

    Obsessive-compulsive disorder is a disabling disorder. Genetic predisposing factors may have an important role in the onset of the symptoms, but is not been individualized any specific gene yet. In the last years it has been demonstrated that obsessive-compulsive disease and/or tic syndromes may be triggered by an antecedent infection especially with group A beta-hemolytic streptococci. On the basis of recent studies has been postulated that in genetically predisposed individuals, certain streptococcal antigens trigger antibodies which, through a process of molecular mimicry, cross-react with epitopes on the basal ganglia. According to such hypothesis, the acronym PANDAS has been used to describe a subset of children with abrupt onset or exacerbations of OCD or tics, or both, following streptococcal infections. Neuroimaging studies reveal increased basal ganglia volumes, and the proposed cause involves the cross-reaction of streptococcal antibodies with basal ganglia tissue. The hypothesis of a possible involvement of the immunitary system seems justified from quantitative alterations of TNF-alpha, IL-6 and IL-1 in the patients' serum with such syndrome. Echotomographic studies on cardiac valves have not yet demonstrated the parallels between PANDAS and Sydenham's chorea. The use of treatment strategies, such as therapeutic plasmapheresis or intravenous immunoglobulin, has been proposed to explain the autoimmune process responsible for the pathogenesis of PANDAS. Further research is still necessary in order to understand the role of streptococcal infection in the pathogenesis of PANDAS. PMID:20066816

  8. [Anti-basal ganglia antibody].

    Science.gov (United States)

    Hayashi, Masaharu

    2013-04-01

    Sydenham's chorea (SC) is a major manifestation of rheumatic fever, and the production of anti-basal ganglia antibodies (ABGA) has been proposed in SC. The pathogenesis is hypothesized as autoimmune targeting of the basal ganglia via molecular mimicry, triggered by streptococcal infection. The spectrum of diseases in which ABGA may be involved has been broadened to include other extrapyramidal movement disorders, such as tics, dystonia, and Parkinsonism, as well as other psychiatric disorders. The autoimmune hypothesis in the presence and absence of ABGA has been suggested in Tourette's syndrome (TS), early onset obsessive-compulsive disorders (OCD), and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Recently, the relationship between ABGA and dopamine neurons in the basal ganglia has been examined, and autoantibodies against dopamine receptors were detected in the sera from patients with basal ganglia encephalitis. In Japan, the occurrence of subacute encephalitis, where patients suffer from episodes of altered behavior and involuntary movements, has increased. Immune-modulating treatments are effective, indicating the involvement of an autoimmune mechanism. We aimed to detect the anti-neuronal autoantibodies in such encephalitis, using immunohistochemical assessment of patient sera. The sera from patients showing involuntary movements had immunoreactivity for basal ganglia neurons. Further epitopes for ABGA will be investigated in basal ganglia disorders other than SC, TS, OCD, and PANDAS. PMID:23568985

  9. 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. PMID:9733286

  10. 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. PMID:17726915

  11. PANDAS: current status and directions for research.

    Science.gov (United States)

    Snider, L A; Swedo, S E

    2004-10-01

    The recognition of the five criteria for PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) by Swedo et al established a homogenous subgroup of children with childhood onset obsessive-compulsive disorder (OCD) and/or tic disorders. The five clinical characteristics that define the PANDAS subgroup are the presence of OCD and/or tic disorder, prepubertal age of onset, abrupt onset and relapsing-remitting symptom course, association with neurological abnormalities during exacerbations (adventitious movements or motoric hyperactivity), and a temporal association between symptom exacerbations and a Group-A beta-hemolytic streptococcal (GAS) infection. These five criteria have been used for the purpose of systematic research on the phenomenology and unique therapies for the PANDAS subgroup as well as studies of the pathophysiology of post-streptococcal OCD and tic disorders. The etiology of OCD and tics in the PANDAS subgroup is unknown, but is theorized to occur as a result of post-streptococcal autoimmunity in a manner similar to that of Sydenham's chorea. The working hypothesis for the pathophysiology begins with a GAS infection in a susceptible host that incites the production of antibodies to GAS that crossreact with the cellular components of the basal ganglia, particularly in the caudate nucleus and putamen. The obsessions, compulsions, tics, and other neuropsychiatric symptoms seen in these children are postulated to arise from an interaction of these antibodies with neurons of the basal ganglia. PMID:15241433

  12. A murine model for neuropsychiatric disorders associated with group A beta-hemolytic streptococcal infection.

    Science.gov (United States)

    Hoffman, Kurt L; Hornig, Mady; Yaddanapudi, Kavitha; Jabado, Omar; Lipkin, W Ian

    2004-02-18

    A syndrome of motoric and neuropsychiatric symptoms comprising various elements, including chorea, hyperactivity, tics, emotional lability, and obsessive-compulsive symptoms, can occur in association with group A beta-hemolytic streptococcal (GABHS) infection. We tested the hypothesis that an immune response to GABHS can result in behavioral abnormalities. Female SJL/J mice were immunized and boosted with a GABHS homogenate in Freund's adjuvant, whereas controls received Freund's adjuvant alone. When sera from GABHS-immunized mice were tested for immunoreactivity to mouse brain, a subset was found to be immunoreactive to several brain regions, including deep cerebellar nuclei (DCN), globus pallidus, and thalamus. GABHS-immunized mice having serum immunoreactivity to DCN also had increased IgG deposits in DCN and exhibited increased rearing behavior in open-field and hole-board tests compared with controls and with GABHS-immunized mice lacking serum anti-DCN antibodies. Rearing and ambulatory behavior were correlated with IgG deposits in the DCN and with serum immunoreactivity to GABHS proteins in Western blot. In addition, serum from a GABHS mouse reacted with normal mouse cerebellum in nondenaturing Western blots and immunoprecipitated C4 complement protein and alpha-2-macroglobulin. These results are consistent with the hypothesis that immune response to GABHS can result in motoric and behavioral disturbances and suggest that anti-GABHS antibodies cross-reactive with brain components may play a role in their pathophysiology. PMID:14973249

  13. [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

  14. 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

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Fujita, Motoi; Kitamura, Hideaki; Nakajima, Takashi [Saigata National Hospital, Niigata (Japan)

    2000-02-01

    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 {sup 125}I 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.)

  17. 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

  18. Huntington's disease: present treatments and future therapeutic modalities.

    Science.gov (United States)

    Bonelli, Raphael M; Wenning, Gregor K; Kapfhammer, Hans P

    2004-03-01

    Huntington's disease (HD) is a devastating neuropsychiatric disorder for which therapeutic interventions have been rather fruitless to date, except in a slight symptomatic relief. Even the discovery of the gene related to HD in 1993 has not effectively advanced treatments. This article is essentially a review of available double-blind, placebo-controlled trials of therapy for this condition which also includes relevant open label trials. Unfortunately, HD research has tended to concentrate on the motor aspects of the disorder, whereas the major problems are behavioural (e.g. dementia, depression, psychosis), and the chorea is often least relevant in terms of management. We conclude that there is definitely poor evidence in management of HD. The analysis of the 24 best studies fails to result in a treatment recommendation of clinical relevance. Based on data of open-label studies, or even case reports, we recommend riluzole, olanzapine and amantadine for the treatment of the movement disorders associated with HD, selective serotonin reuptake inhibitors and mirtazapine for the treatment of depression, and atypical antipsychotic drugs for HD psychosis and behavioural problems. Moreover, adjuvant psychotherapy, physiotherapy and speech therapy should be applied to supply the optimal management. Finally, some cellular mechanisms are discussed in this paper because they are essential for future neuroprotective modalities, such as minocycline, unsaturated fatty acids or riluzole. PMID:15076012

  19. 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

  20. An analysis of [3H]gamma-aminobutyric acid (GABA) binding in the human brain.

    Science.gov (United States)

    Lloyd, K G; Dreksler, S

    1979-03-01

    The binding of [3H]GABA to membranes prepared from human brains obtained post morten was examined. This binding was independent of patient sex, age (16--80 years), postmortem interval (4--33 h) or storage time when frozen (0-64 months). In preparations from cerebellar cortex various compounds displaced [3H]GABA binding with the following order of potency: muscimol greater than 3-aminopropanesulfonic acid greater than GABA greater than imidazoleacet acid greater than delta-amino-n-valeric acid greater than 3-hydroxyGABA greater than bicuculline. Other compounds active 'in vitro' included strychnine, homocarnosine and some (e.g. clozapine, thioridazine, pimozide) but not all (chlorpromazine, haloperiodol) neuroleptics. Compounds inactive 'in vitro' included aminooxyacetic acid, baclofen, picrotoxin, anticholinergics, metrazole, anticonvulsants and naloxone. Triton X-100 augmented the [3H]GABA binding (25 nM) by about 10--20-fold in most brain regions. [3H]GABA binding (IC50) was altered in Huntington's chorea and Reye's syndrome, but not in schizophrenics (4-neuroleptic-treated patients) or sudden infant death syndrome. The data presented strongly support the proposal that the measurement of [3H]GABA binding in postmortem human brain offers a reflection of the state of the physiologically relevant GABA receptor. PMID:218679

  1. 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.)

  2. 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

  3. 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

  4. 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

  5. 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.

  6. 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

  7. 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.

  8. 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.

  9. 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

  10. 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)

  11. 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

  12. 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.

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

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    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.

  14. 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.)

  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. 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

  17. 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.

  18. Relicts of dancing mania: the dancing procession of Echternach.

    Science.gov (United States)

    Krack, P

    1999-12-10

    In the small town of Echternach in Luxembourg, remnants of chorea St. Vitii can be found every year when pilgrims gather at the grave of St. Willibrord (658-739) to take part in the so-called Dancing Procession on Whit Tuesday. Miracles and healings are reported to have taken place in front of Willibrord's sarcophagus in the late eighth century. News of the miraculous healings inspired the celebratory folkdances in Echternach. Willibrord became the patron saint of patients with movement disorders. Important annual pilgrimages to the grave of Saint Willibrord, with pilgrims from Gallic and Teutonic provinces, were reported around 1100. The Dancing Procession is first mentioned in the Echternach city archives in 1497. In 1900, Henri Meige, a neurologist with a special interest in movement disorders, visited Echternach to observe the annual Dancing Procession. Although Meige was disappointed with the lack of hysteria, he concluded that the Dancing Procession of Echternach was not without grandeur. Outbreaks of mass hysteria with a background of religious fervor, pagan traditions, or superstition are the most likely explanation for the medieval dancing mania. This view is supported by the religious motivation behind the present-day Dancing Procession in Echternach, a ritual with mixed pagan-Christian origins related to Saint Vitus' dance. PMID:10599799

  19. Hemichorea and dystonia due to frontal lobe meningioma

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    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.

  20. Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

    Science.gov (United States)

    McMahon, Kelly Q; Papandreou, Apostolos; Ma, Mandy; Barry, Brenda J; Mirzaa, Ghayda M; Dobyns, William B; Scott, Richard H; Trump, Natalie; Kurian, Manju A; Paciorkowski, Alex R

    2015-12-01

    FOXG1-related disorders are caused by heterozygous mutations in FOXG1 and result in a spectrum of neurodevelopmental phenotypes including postnatal microcephaly, intellectual disability with absent speech, epilepsy, chorea, and corpus callosum abnormalities. The recurrence risk for de novo mutations in FOXG1-related disorders is assumed to be low. Here, we describe three unrelated sets of full siblings with mutations in FOXG1 (c.515_577del63, c.460dupG, and c.572T > G), representing familial recurrence of the disorder. In one family, we have documented maternal somatic mosaicism for the FOXG1 mutation, and all of the families presumably represent parental gonadal (or germline) mosaicism. To our knowledge, mosaicism has not been previously reported in FOXG1-related disorders. Therefore, this report provides evidence that germline mosaicism for FOXG1 mutations is a likely explanation for familial recurrence and should be considered during recurrence risk counseling for families of children with FOXG1-related disorders. PMID:26364767

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

    Energy Technology Data Exchange (ETDEWEB)

    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).

  2. Screening for anti-titin antibodies in patients with various paraneoplastic neurological syndromes.

    Science.gov (United States)

    Berger, Benjamin; Stich, Oliver; Labeit, Siegfried; Rauer, Sebastian

    2016-06-15

    Anti-titin antibodies indicate a paraneoplastic etiology pointing towards a thymoma in myasthenia gravis (MG), but their seroprevalence and potential diagnostic value in patients with other paraneoplastic neurological syndromes (PNS) is unknown. Therefore, we screened the sera of 44 PNS patients with well-characterized onconeural antibodies (anti-Hu, Yo, Ri, CV2/CRMP5, Ma1, Ma2/Ta, or amphiphysin) for anti-titin reactivity. Two patients (4.5%) were positive for anti-titin antibodies: both patients differed regarding the PNS (sensorimotor neuropathy and subacute cerebellar degeneration vs. chorea), well-characterized onconeural antibodies (CV2/CRMP5 vs. Ri), and malignoma (small cell lung cancer vs. breast cancer). However, retrospectively, the patients neither showed any symptoms of MG nor a thymoma on a computed tomographic (CT) scan. The results of this study indicate that anti-titin antibodies without a predictive relevance for MG or thymoma may be present in a small proportion of patients with PNS. PMID:27235344

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

    Directory of Open Access Journals (Sweden)

    Ezquerra M

    2011-06-01

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

  4. 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).

  5. 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.

  6. [Some neurologic and psychiatric complications in endocrine disorders: the thyroid gland].

    Science.gov (United States)

    Aszalós, Zsuzsa

    2007-02-18

    Thyroid hormones are of primary importance for the perinatal development of the central nervous system, and for normal function of the adult brain. These hormones primarily regulate the transcription of specific target genes. They increase the cortical serotonergic neurotransmission, and play an important role in regulating central noradrenergic and GABA function. Thyroid deficiency during the perinatal period results in mental retardation. Hypothyroidism of the adults causes most frequently dementia and depression. Other less common clinical pictures include myxoedema coma, dysfunction of cerebellum and cranial nerves. Hypothyroidism also increases predisposition of stroke. Peripheral diseases frequently include polyneuropathy, carpal tunnel syndrome, myalgic state, and rarely myokymia. Nearly all the hyperthyroid patients show minor psychiatric signs, and infrequently psychosis, dementia, confusion state, depression, apathetic thyrotoxicosis, thyrotoxic crisis, seizures, pyramidal signs, or chorea occur. The peripheral complications may be indicated by chronic thyrotoxic myopathy, infiltrative ophthalmopathy, myasthenia gravis, periodic hypokalemic paralysis and polyneuropathy. Generalized resistance to thyroid hormone was confirmed in a number of patients with attention deficit-hyperactivity disorder. Significantly elevated antithyroid antibody titers characterize Hashimoto's encephalopathy. This condition is a rare, acute - subacute, serious, life threatening, but steroid-responsive, relapsing-remitting, autoimmune disease. PMID:17344150

  7. 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

  8. 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

  9. 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.

  10. 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

  11. Autoimmune neurological disorders associated with group-A beta-hemolytic streptococcal infection.

    Science.gov (United States)

    Hachiya, Yasuo; Miyata, Rie; Tanuma, Naoyuki; Hongou, Kazuhisa; Tanaka, Keiko; Shimoda, Konomi; Kanda, Sachiko; Hoshino, Ai; Hanafusa, Yukiko; Kumada, Satoko; Kurihara, Eiji; Hayashi, Masaharu

    2013-08-01

    Although central nervous system (CNS) disorders associated with group-A beta-hemolytic streptococcal (GABHS) infection occur only rarely, Sydenham's chorea is a well-recognized disease that can arise following infection. Children may develop a tic, obsessive compulsive disorder (OCD), and extrapyramidal movement subsequent to GABHS infection. These disorders have been termed pediatric autoimmune neuropsychiatric disorders associated with streptococci (PANDAS). Herein we report one case each of acute disseminated encephalomyelitis (ADEM), PANDAS and subacute encephalitis associated with GABHS infection. To evaluate the pathogenesis of the CNS disorders associated with GABHS infection, we measured levels of neurotransmitters, cytokines, anti-neuronal autoantibodies, and performed immunohistochemistry using patient sera to stain human brain sections. All three cases showed psychiatric behavioral disorders. Immunotherapy was effective, and homovanillic acid levels in the cerebrospinal fluid (CSF) were elevated at the acute stage in all three cases. In each case of ADEM and PANDAS, immunohistochemistry demonstrated neuronal impairment in the basal ganglia during the acute stage. Neuronal immunoreactivity was visualized in the cerebral cortex at the acute stage in the case of subacute encephalitis. There was no direct correlation between immunoreactivity of patient sera on the brain sections and positivity of anti-neuronal autoantibodies or CSF biomarkers. The results suggest that autoimmune responses may modulate neurotransmission, and the use of patient serum for immunohistochemistry is a sensitive screening method for the detection of anti-neuronal autoantibodies in CNS disorders associated with GABHS infection. PMID:23142103

  12. 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

  13. Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29

    Science.gov (United States)

    Liu, Ding; Zhang, Yumiao; Wang, Yu; Chen, Chanjuan; Li, Xin; Zhou, Jinxia; Song, Zhi; Xiao, Bo; Rasco, Kevin; Zhang, Feng; Wen, Shu; Li, Guoliang

    2016-01-01

    Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent and brief attacks of dystonia or chorea precipitated by sudden movements. It can be sporadic or familial. Proline-Rich Transmembrane Protein 2 (PRRT2) has been shown to be a common causative gene of PKD. However, less than 50% of patients with primary PKD harbor mutations in PRRT2. The aim of this study is to use eight families with PKD to identify the pathogenic PRRT2 mutations, or possible novel genetic cause of PKD phenotypes. After extensive clinical investigation, direct sequencing and mutation analysis of PRRT2 were performed on patients from eight PKD families. A genome-wide STR and SNP based linkage analysis was performed in one large family that is negative for pathogenic PRRT2 mutations. Using additional polymorphic markers, we identified a novel gene locus on chromosome 3q in this PRRT2-mutation-negative PKD family. The LOD score for the region between markers D3S1314 and D3S1256 is 3.02 and we proposed to designate this locus as Episodic Kinesigenic Dyskinesia (EKD3). Further studies are needed to identify the causative gene within this locus. PMID:27173777

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

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    Tokiguchi, Susumu; Kurashima, Akihiko; Tsuchiya, Toshiaki; Ito, Jusuke; Naito, Haruhiko; Nagai, Hiroko; Wakabayashi, Masatoshi; Morita, Masahiro

    1987-12-01

    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.

  15. Non-ketotic hyperglycemia unmasks hemichorea

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    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.

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

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    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.

  17. A plea for end-of-life discussions with patients suffering from Huntington's disease: the role of the physician.

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    Booij, Suzanne J; Engberts, Dick P; Rödig, Verena; Tibben, Aad; Roos, Raymund A C

    2013-10-01

    Euthanasia and physician-assisted suicide (PAS) by request and/or based on an advance directive are legal in The Netherlands under strict conditions, thus providing options for patients with Huntington's disease (HD) and other neurodegenerative diseases to stay in control and choose their end of life. HD is an inherited progressive disease characterised by chorea and hypokinesia, psychiatric symptoms and dementia. From a qualitative study based on interviews with 15 physicians experienced in treating HD, several ethical issues emerged. Consideration of these aspects leads to a discussion about the professional role of a physician in relation to the personal autonomy of a patient. Such a discussion can raise awareness that talking about end-of-life wishes with an HD patient is part of the legal, professional and moral responsibility of the physician, and that a letter of intent on behalf of the physician can improve active participation in the process. Discussion of these issues can help to advance the debate on euthanasia and PAS in HD and other neurodegenerative diseases. PMID:23264360

  18. [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

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

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    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.

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

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    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.

  1. Cranial MRI in Wilson's disease

    International Nuclear Information System (INIS)

    Thirty-eight patients with biochemically proven Wilson's disease underwent magnetic resonanceimaging (MRI) of the brain as well as neurological examinations. The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: Dysarthria, tremor, ataxia, rigidity/bradykinesia and chorea/dystonia. Pathological MR findings believed secondary to this uncommon inherited disorder of copper metabolism were found in twenty-two subjects. Focal abnormalities were seen in the lenticular, thalamic and caudate nuclei as well as in brain stem and white matter; these lesions were best demonstrated on T2-weighted sequences as hyperintense areas. In eight patients we found diffuse brain atrophy with consecutive widening of the ventricular system. Five subjects showed mild, nineteen severe neurologic deficits. Generally there was no correlation between MR findings and clinical neurological symptoms; the impairment of cell-metabolism causing functional alterations of the brain precedes morphological changes. During treatment with the copper chelator D-penicillamine there seemed to be a phased course of disease. Shortening of T1-relaxation due to paramagnetic influence of copper was not seen; a possible explanation could be intracellular deposition - a proton-electron-dipolar-dipolar-interaction would there for be impossible. (orig.)

  2. 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.

  3. What do the basal ganglia do? A modeling perspective.

    Science.gov (United States)

    Chakravarthy, V S; Joseph, Denny; Bapi, Raju S

    2010-09-01

    Basal ganglia (BG) constitute a network of seven deep brain nuclei involved in a variety of crucial brain functions including: action selection, action gating, reward based learning, motor preparation, timing, etc. In spite of the immense amount of data available today, researchers continue to wonder how a single deep brain circuit performs such a bewildering range of functions. Computational models of BG have focused on individual functions and fail to give an integrative picture of BG function. A major breakthrough in our understanding of BG function is perhaps the insight that activities of mesencephalic dopaminergic cells represent some form of 'reward' to the organism. This insight enabled application of tools from 'reinforcement learning,' a branch of machine learning, in the study of BG function. Nevertheless, in spite of these bright spots, we are far from the goal of arriving at a comprehensive understanding of these 'mysterious nuclei.' A comprehensive knowledge of BG function has the potential to radically alter treatment and management of a variety of BG-related neurological disorders (Parkinson's disease, Huntington's chorea, etc.) and neuropsychiatric disorders (schizophrenia, obsessive compulsive disorder, etc.) also. In this article, we review the existing modeling literature on BG and hypothesize an integrative picture of the function of these nuclei. PMID:20644953

  4. Huntington’s disease masquerading as spinocerebellar ataxia

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    Rodríguez-Quiroga, Sergio Alejandro; Gonzalez-Morón, Dolores; Garretto, Nelida; Kauffman, Marcelo Andres

    2013-01-01

    Huntington’s disease (HD) is a neurodegenerative disorder of the central nervous system characterised by the presence of choreic abnormal movements, behavioural or psychiatric disturbances and dementia. Noteworthy, despite atypical motor symptoms other than chorea have been reported as initial presentation in some patients, a very few number of HD patients, presenting at onset mostly cerebellar dysfunction masquerading dominant spinocerebellar ataxias (SCA), were occasionally reported. We report the case of a 42-year-old man with a 5-year history of gait disturbance, dysarthria and cognitive impairment and familial antecedents of dementia and movement disorders. Initially the clinical picture suggested the diagnosis of a dominant SCA, but finally a diagnosis of HD was made based on the molecular evidence of abnormal 39 Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of Huntingtin gene. The authors highlight the importance of suspecting HD in the aetiology of spinocerebellar ataxias when dementia is a prominent feature in the proband or their family. PMID:23853009

  5. Clinical presentation of juvenile Huntington disease

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    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  6. Huntington's Disease and Striatal Signaling

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    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.

  7. MR findings in pontocerebellar hypoplasia

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    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.

  8. Frequency-Specific Local Synchronization Changes in Paroxysmal Kinesigenic Dyskinesia.

    Science.gov (United States)

    Liu, Zhi-Rong; Miao, Huan-Huan; Yu, Yang; Ding, Mei-Ping; Liao, Wei

    2016-03-01

    The neurobiological basis of paroxysmal kinesigenic dyskinesia (PKD) is poorly defined due to the lack of reliable neuroimaging differences that can distinguish PKD with dystonia (PKD-D) from PKD with chorea (PKD-C). Consequently, diagnosis of PKD remains largely based on the clinical phenotype. Understanding the pathophysiology of PKD may facilitate discrimination between PKD-D and PKD-C, potentially contributing to more accurate diagnosis.We conducted resting-state functional magnetic resonance imaging on patients with PKD-D (n = 22), PKD-C (n = 10), and healthy controls (n = 32). Local synchronization was measured in all 3 groups via regional homogeneity (ReHo) and evaluated using receiver operator characteristic analysis to distinguish between PKD-C and PKD-D.Cortical-basal ganglia circuitry differed significantly between the 2 groups at a specific frequency. Furthermore, the PKD-D and PKD-C patients were observed to show different spontaneous brain activity in the right precuneus, right putamen, and right angular gyrus at the slow-5 frequency band (0.01-0.027 Hz).The frequency-specific abnormal local synchronization between the 2 types of PKD offers new insights into the pathophysiology of this disorder to some extent. PMID:27043701

  9. Benzimidazolone bioisosteres of potent GluN2B selective NMDA receptor antagonists.

    Science.gov (United States)

    Lütnant, Ines; Schepmann, Dirk; Wünsch, Bernhard

    2016-06-30

    Overactivation of the NMDA receptor is associated with excitotoxic events leading to neurodegenerative processes as observed during the development of Alzheimer's disease, ParFnson's disease, Chorea Huntington and epilepsy. Negative allosteric modulators addressing selectively the ifenprodil binding site of GluN2B subunit containing NMDA receptors are of major interest due to their neuroprotective potential accompanied by few side effects. Herein benzimidazolone bioisosteres of potent GluN2B antagonists 1-5 were designed and synthesized. A seven step sequence provided the central intermediate 19 in 28% yield. Elimination of water, methylation, epoxidation, epoxide rearrangement and finally reductive amination afforded the [7]annulenobenzimidazolone 30 with a 3-phenylpropylamino substituent in 6-position. Although 30 fits nicely into the pharmacophore of potent GluN2B antagonists, the gluN2B binding affinity of 30 was only moderate (Ki = 697 nM). Additionally, 30 shows low selectivity over the σ2 receptor (Ki = 549 nM). The moderate GluN2B affinity was explained by the rigid tricyclic structure of the [7]annulenobenzimidazolone 30. PMID:27061977

  10. 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

  11. 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

  12. 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.

  13. Is obsessive-compulsive disorder an autoimmune disease?

    Science.gov (United States)

    Arnold, P D; Richter, M A

    2001-11-13

    OBSESSIVE-COMPULSIVE DISORDER (OCD) IS A COMMON and debilitating neuropsychiatric disorder. Although it is widely believed to have a genetic basis, no specific genetic factors have been conclusively identified as yet, leading researchers to look for environmental risk factors that may interact with an underlying genetic susceptibility in affected individuals. Recently, there has been increasing interest in a possible link between streptococcal infections and the development of OCD and tic disorders in children. It has been suggested that OCD in some susceptible individuals may be caused by an autoimmune response to streptococcal infections, that is, a similar biological mechanism to that associated with Sydenham's chorea. The term "pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections" (PANDAS) has been used to describe a subset of children with abrupt onset or exacerbations of OCD or tics, or both, following streptococcal infections. Affected children have relatively early symptom onset, characteristic comorbid symptoms and subtle neurological dysfunction. Neuroimaging studies reveal increased basal ganglia volumes, and the proposed cause involves the cross-reaction of streptococcal antibodies with basal ganglia tissue. Vulnerability to developing PANDAS probably involves genetic factors, and elevated levels of D8/17 antibodies may represent a marker of susceptibility to PANDAS. Prophylactic antibiotic treatments have thus far not been shown to be helpful in preventing symptom exacerbations. Intravenous immunoglobulin therapy may be an effective treatment in selected individuals. Further understanding of the role of streptococcal infections in childhood-onset OCD will be important in determining alternative and effective strategies for treatment, early identification and prevention of this common and debilitating psychiatric disorder. PMID:11760984

  14. 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.

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

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    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. 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

  17. 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

  18. 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.

  19. 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.

  20. Multiple aspects of gene dysregulation in Huntington’s Disease.

    Directory of Open Access Journals (Sweden)

    JocelyneCaboche

    2013-10-01

    Full Text Available 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 deficit, altered proteasome activity, and gene dysregulation. Transcriptional dysregulation occurs at early neuropathological stages in HD patients. Multiple genes are dysregulated, with overlaps of altered transcripts between mouse models of HD and patient brains. Nuclear localization of Exp-Htt interferes with transcription factors, co-activators and proteins of the transcriptional machinery. Another key mechanism described so far, is an alteration of cytoplasmic retention of the transcriptional repressor REST, which is normally associated with wild-type Htt. As such, Exp-Htt causes alteration of transcription of multiple genes involved in neuronal survival, plasticity, signaling and mitochondrial biogenesis and respiration. Besides these transcriptional dysregulations, Exp-Htt affects the chromatin structure through altered post-translational modifications (PTM of histones and methylation of DNA. Multiple alterations of histone PTM are described, including acetylation, methylation, ubiquitylation, polyamination and phosphorylation. Exp-Htt also affects the expression and regulation of non-coding microRNAs. First multiple neural microRNAs are controlled by REST, and dysregulated in HD, with concomitant de-repression of downstream mRNA targets. Second, Exp-Htt protein or RNA may also play a major role in the processing of miRNAs and hence pathogenesis. These pleiotropic effects of Exp-Htt on gene expression may represent seminal deleterious effects on the

  1. Effects of cyclooxygenase inhibitor pretreatment on nitric oxide production, nNOS and iNOS expression in rat cerebellum.

    Science.gov (United States)

    Di Girolamo, G; Farina, M; Riberio, M L; Ogando, D; Aisemberg, J; de los Santos, A R; Martí, M L; Franchi, A M

    2003-07-01

    1. The therapeutic effect of nonsteroidal anti-inflammatory drugs (NSAIDs) is thought to be due mainly to its inhibition of cyclooxygenase (COX) enzymes, but there is a growing body of research that now demonstrates a variety of NSAIDs effects on cellular signal transduction pathways other than those involving prostaglandins. 2. Nitric oxide (NO) as a free radical and an agent that gives rise to highly toxic oxidants (peroxynitrile, nitric dioxide, nitron ion), becomes a cause of neuronal damage and death in some brain lesions such as Parkinson and Alzheimer disease, and Huntington's chorea. 3. In the present study, the in vivo effect of three NSAIDs (lysine clonixinate (LC), indomethacine (INDO) and meloxicam (MELO)) on NO production and nitric oxide synthase expression in rat cerebellar slices was analysed. Rats were treated with (a) saline, (b) lipopolysaccharide (LPS) (5 mg kg(-1), i.p.), (c) saline in combination with different doses of NSAIDs and (d) LPS in combination with different doses of NSAIDs and then killed 6 h after treatment. 4. NO synthesis, evaluated by Bred and Snyder technique, was increased by LPS. This augmentation was inhibited by coadministration of the three NSAIDs assayed. None of the NSAIDs tested was able to modify control NO synthesis. 5. Expression of iNOS and neural NOS (nNOS) was detected by Western blotting in control and LPS-treated rats. LC and INDO, but not MELO, were able to inhibit the expression of these enzymes. 6. Therefore, reduction of iNOS and nNOS levels in cerebellum may explain, in part, the anti-inflammatory effect of these NSAIDs and may also have importance in the prevention of NO-mediated neuronal injury. PMID:12871835

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

    Energy Technology Data Exchange (ETDEWEB)

    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).

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

    Science.gov (United States)

    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

  4. 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.

  5. 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)

  6. 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.

  7. 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.

  8. 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].

  9. 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

  10. 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

  11. Influence of inhibitors of poly(ADP-ribose) polymerase on DNA repair, chromosomal alterations, and mutations

    Energy Technology Data Exchange (ETDEWEB)

    Natarajan, A.T.; van Zeeland, A.A.; Zwanenburg, T.S.

    1983-01-01

    The influence of inhibitors of poly(ADP-ribose) polymerase such as 3-aminobenzamide (3AB) and benzamide (B) on the spontaneously occurring as well as mutagen induced chromosomal aberrations, sister chromatid exchanges (SCEs) and point mutations has been studied. In addition, the influence of 3AB on DNA repair was measured following treatment with physical and chemical mutagens. Post treatment of X-irradiated mammalian cells with 3AB increases the frequencies of induced chromosomal aberrations by a factor of 2 to 3. 3AB, when present in the medium containing bromodeoxyuridine(BrdUrd) during two cell cycles, increases the frequencies of SCEs in Chinese hamster ovary cells (CHO) in a concentration dependent manner leading to about a 10-fold increase at 10 mM concentration. The extent of increase in the frequencies of SCEs due to 1 mM 3AB in several human cell lines has been studied, including those derived from patients suffering from genetic diseases such as ataxia telangiectasia (A-T), Fanconi's anemia (FA), and Huntington's chorea. None of these syndromes showed any increased response when compared to normal cells. 3AB, however, increased the frequencies of spontaneously occurring chromosomal aberrations in A-T and FA cells. 3AB does not influence the frequencies of SCEs induced by UV or mitomycin C (MMC) in CHO cells. However, it increases the frequencies of SCEs induced by ethyl methanesulfonate (EMS) and methyl methanesulfonate (MMS). Under the conditions in which 3AB increases the frequencies of spontaneously occurring as well as induced SCEs, it does not increase the frequencies of point mutations in hypoxanthine-guanine phosphoribosyltransferase (HGPRT) locus. 3AB does not influence the amount of repair replication following dimethylsulphate (DMS) treatment of human fibroblasts, or UV irradiated human lymphocytes.

  12. 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.

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

    International Nuclear Information System (INIS)

    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

  14. 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.

  15. 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.

  16. Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

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    Ktena, Yiouli P; Paul, Scott M; Hauser, Natalie S; Sloan, Jennifer L; Gropman, Andrea; Manoli, Irini; Venditti, Charles P

    2015-09-01

    Methylmalonic acidemia patients have complex rehabilitation needs that can be targeted to optimize societal independence and quality of life. Thirty-seven individuals with isolated MMA (28 mut, 5 cblA, 4 cblB), aged 2-33 years, were enrolled in a natural history study, and underwent age-appropriate clinical assessments to characterize impairments and disabilities. Neurological examination and brain imaging studies were used to document movement disorders and the presence of basal ganglia injury. A range of impairments and disabilities were identified by a team of physical medicine experts. Movement disorders, such as chorea and tremor, were common (n = 31, 83%), even among patients without evidence of basal ganglia injury. Joint hypermobility (n = 24, 69%) and pes planus (n = 22, 60%) were frequent and, in many cases, under-recognized. 23 (62%) patients required gastrostomy feedings. 18/31 patients >4 years old (58%) had difficulties with bathing and dressing. 16 of 23 school-aged patients received various forms of educational support. Five of the 10 adult patients were employed or in college; three lived independently. Unmet needs were identified in access to rehabilitation services, such as physical therapy (unavailable to 14/31), and orthotics (unavailable to 15/22). We conclude that patients with MMA are challenged by a number of functional limitations in essential activities of mobility, self-care, and learning, in great part caused by movement disorders and ligamentous laxity. Early assessment, referral, and implementation of age-appropriate rehabilitation services should significantly improve independence and quality of life. PMID:25959030

  17. Polycythemia vera presenting with left hemichoreiform movements

    International Nuclear Information System (INIS)

    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 880x104, Hb 22.4g/dl, Hct 63%, WBC 8,100, platelets 22.9x104, ESR 0mm/hr, RBC oxygen saturation 97%, serum iron 67 μg/dl, LDH 593 units, uric acid 14mg/dl, and erythropoietine (HI method) 19mIU/ml (normal 28-88). Bone marrow showed myeloid nucleated cell count 38.6x104. 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 870x104, Hb 19.8g/dl, Hct 62%, WBC 10,200, and plateret 37.4x104. 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)

  18. Prognostic value of clinical and Doppler echocardiographic findings in children and adolescents with significant rheumatic valvular disease

    International Nuclear Information System (INIS)

    The diagnosis of acute rheumatic fever (RF) is based on clinical findings. However, during the chronic phase of the disease, the clinical approach is not sufficient for the follow-up of the patients and the Doppler echocardiography is a tool for the diagnosis of cardiac involvement. Prognostic variables that influence long-term outcomes are not well known. 462 patients with RF according to Jones criteria were studied, and followed-up from the initial attack to 13.6 ± 4.6 years. All patients underwent clinical assessment and Doppler echocardiography for the detection of heart valve involvement in the acute and chronic phases. Multivariate logistic regression analysis was used to identify the factors influencing long-term heart valve disease. Carditis occurred in 55.8% and subclinical valvulitis in 35.3% patients. In the chronic phase, 33% of the patients had significant valvular heart disease. No normal Doppler echocardiography exam was observed on patients who had severe valvulitis, although heart auscultation had become normal in 13% of these. In the multivariate analysis, only the severity of carditis and the mitral and/or aortic valvulitis were associated with significant valvular heart disease. Chorea or arthritis were protective factors for significant valvular heart disease, odds ratio 0.41 (95% C.I. 0.22 – 0.77) and 0.43 (95% C.I. 0.23 – 0.82), respectively. Our study suggests that the use of Doppler echocardiography during RF helps to identify prognostic factors regarding the development of significant valvular heart disease. Initial severe carditis is an important factor in the long-term prognosis of chronic RHD, whereas arthritis and chore during the initial episode of RF appears to be protective. Strict secondary prophylaxis should be mandatory in high risk patients

  19. 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

  20. 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

  1. The unresolved puzzle why alanine extensions cause disease.

    Science.gov (United States)

    Winter, Reno; Liebold, Jens; Schwarz, Elisabeth

    2013-08-01

    The prospective increase in life expectancy will be accompanied by a rise in the number of elderly people who suffer from ill health caused by old age. Many diseases caused by aging are protein misfolding diseases. The molecular mechanisms underlying these disorders receive constant scientific interest. In addition to old age, mutations also cause congenital protein misfolding disorders. Chorea Huntington, one of the most well-known examples, is caused by triplet extensions that can lead to more than 100 glutamines in the N-terminal region of huntingtin, accompanied by huntingtin aggregation. So far, nine disease-associated triplet extensions have also been described for alanine codons. The extensions lead primarily to skeletal malformations. Eight of these proteins represent transcription factors, while the nuclear poly-adenylate binding protein 1, PABPN1, is an RNA binding protein. Additional alanines in PABPN1 lead to the disease oculopharyngeal muscular dystrophy (OPMD). The alanine extension affects the N-terminal domain of the protein, which has been shown to lack tertiary contacts. Biochemical analyses of the N-terminal domain revealed an alanine-dependent fibril formation. However, fibril formation of full-length protein did not recapitulate the findings of the N-terminal domain. Fibril formation of intact PABPN1 was independent of the alanine segment, and the fibrils displayed biochemical properties that were completely different from those of the N-terminal domain. Although intranuclear inclusions have been shown to represent the histochemical hallmark of OPMD, their role in pathogenesis is currently unclear. Several cell culture and animal models have been generated to study the molecular processes involved in OPMD. These studies revealed a number of promising future therapeutic strategies that could one day improve the quality of life for the patients. PMID:23612654

  2. 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

  3. 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.)

  4. [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

  5. 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

  6. Current Status of Huntington’s Disease in Korea: A Nationwide Survey and National Registry Analysis

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    Hyun Sook Kim

    2015-01-01

    Full Text Available Objective Huntington’s disease (HD is a rare neurological disorder, and its current status in Korea is not well investigated. This study aims to determine the prevalence and incidence of HD and to investigate the clinical features of HD patients in Korea. Methods We estimated the crude prevalence and annual incidence of HD based on the databases of the Rare Diseases Registry (RDR and the National Health Insurance (NHI. The clinical data of genetically confirmed HD patients was collected from 10 referral hospitals and analyzed. Results The mean calculated annual incidence was 0.06 cases per 100,000 persons, and the mean calculated prevalence was 0.38 based on the NHI database. The estimated crude prevalence based on the RDR was 0.41. Of the sixty-eight HD patients recruited, the mean age of onset was 44.16 ± 14.08 years and chorea was most frequently reported as the initial symptom and chief complaint. The mean CAG repeat number of the expanded allele was 44.7 ± 4.8 and correlated inversely with the age of onset (p < 0.001. About two-thirds of the patients have a positive family history, and HD patients without positive family history showed a delay in onset of initial symptoms, a prolonged interval between initial symptom onset and genetic diagnosis and a delay in the age of genetic diagnosis. Conclusions To the best of our knowledge, this is the first study to estimate the prevalence and incidence of HD in Korea and the largest HD series in the Asian population. Our analyses might be useful for further studies and large-scale investigations in HD patients.

  7. 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.

  8. 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.

  9. Clinical pattern of heart diseases in children

    International Nuclear Information System (INIS)

    This study was done to determine various causes and clinical presentation of heart disease in children. It was a prospective hospital study conducted in Department of Pediatrics Civil Hospital, Karachi from August 1995 to February 1996. In this study, 70 patients of heart disease upto 12 years of age were inducted. There were 33 (47.14%) cases of congenital heart diseases and 37 (52.85%) cases of acquired heart diseases. The age distribution showed that heart disease was more frequent between 0-11 months of age (41.42%). Congenital heart diseases were also frequent between 0-11 months (28.57%). On the other hand acquired heart diseases were more common between 6-12 years (22.85%). In this study the males were predominantly involved, the male to female ratio was 1.05:1. In congenital heart disease it was 1.3:1 and in acquired heart diseases it was 0.85:1. Ventricular septal defect was the commonest congenital lesion reported (20%). Rheumatic fever and viral myocarditis were two frequently occurring acquired heart-diseases 17.14% each. The common presentation of heart diseases were respiratory distress (94.28%), fever (90%), feeding difficulty (57.14%) and failure to thrive (34.28%). In case of rheumatic fever, chorea was present in 8.57%, arthritis in 11.42% and S/C nodules (2.85%) cases respectively. The early management of the problem may help in decreasing morbidity and mortality due to these disease in children. Prenatal detection of congenital cardiac lesions by fetal echocardiography in high risk pregnancies, early intervention in neonatal period and counseling of the parents may help in prevention of congenital heart diseases in children. Primary prevention of rheumatic fever can be achieved by early diagnosis and treatment of streptococcal throat infection. (author)

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

    Science.gov (United States)

    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

  11. Cross-cutting issues and future directions for the OCD spectrum.

    Science.gov (United States)

    Hollander, Eric; Kim, Suah; Braun, Ashley; Simeon, Daphne; Zohar, Joseph

    2009-11-30

    The research planning agenda for DSM-V examined possible similarities in phenomenology, comorbidity, familial and genetic features, brain circuitry, and treatment response between obsessive-compulsive disorder (OCD) and several related disorders that are characterized by repetitive thoughts or behaviors. Such data support a re-examination of the DSM-IV-TR classification of OCD and the anxiety disorders, with possible inclusion of a group of obsessive-compulsive spectrum disorders (OCSDs) in DSM-V. Various disorders were systematically examined for inclusion in such a grouping, and later a smaller number were determined to meet threshold criteria for inclusion in the OCSDs. The disorders that were originally examined included OCD, obsessive-compulsive personality disorder (OCPD), Tourette's syndrome (TS) and other tic disorders, Sydenham's chorea, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS), trichotillomania (TTM), body dysmorphic disorder (BDD), autism, eating disorders, Huntington's and Parkinson's disease, impulse control disorders, as well as substance and behavioral addictions. Certain disorders such as BDD, OCPD, TS, and TTM share many commonalities with OCD in phenomenology, comorbidity, familial and genetic features, brain circuitry, and treatment response. Other disorders, such as the impulse control disorders (ICDs) share some common features with OCD, but also differ in many ways as well. The articles presented in this issue of Psychiatry Research are a result of this international collaboration, which examined diagnostic and classification issues of OCSDs for DSM-V in a conference titled "The Future of Psychiatric Diagnosis: Refining the Research Agenda: Obsessive-Compulsive Behavior Spectrum" held in June 2006 at the American Psychiatric Association's headquarters in Arlington, VA. PMID:19811839

  12. Study of brain metabolism using positron emission computed tomography

    International Nuclear Information System (INIS)

    Positron emission tomography permits the three-dimensional regional measurement of metabolism and blood flow in the brain. For the determination of cerebral metabolic rates of glucose by PET 18fluordeoxyglucose is usually applied: cerebral metabolic rate of glucose was found to be 36 to 47 μmol/100 g/min in the grey matter and 23 to 29 μmol/100 g/min in the white matter of normal volunteers. During physiologic activation metabolic rate of glucose is increased in the respective brain areas in relation to the strength and complexity of the stimulation. In patients suffering from ischaemic stroke glucose metabolism is markedly decreased within the infarction. Additonally, glucose metabolism is reduced by 20% in morphologically intact areas of the homolateral cortex, in the basal ganglia, in the cortical area contralateral to the infarction and in the contralateral cerebellum. This remote reduction of glucose utilization is probably caused by functional inactivation of these brain structures; it could be responsible for the diffuse organic syndrome in stroke victims not caused by the focal lesion. In patients suffering from dementia of the multi-infarct type and of the Alzheimer type glucose metabolism is reduced; the lesions in Alzheimer cases are most prominent in partietal and frontal cortical areas. In Chorea Huntington cases glucose metabolism is primarily disturbed in the striate, especially in the caudate nucleus; in these cases the metabolic disturbance can be detected earlier than the atrophy in computed tomograms. Disturbances of glucose and oxygen utilization are not necessary causes, but may also be sequelae od functional impairment. Additional information on pathogentic mechanisms may be obtained by the investigation of the protein synthesis. (orig.)

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

    International Nuclear Information System (INIS)

    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.)

  14. 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.

  15. 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

  16. [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

  17. 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

  18. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  20. Paleoneurology: neurodegenerative diseases are age-related diseases of specific brain regions recently developed by Homo sapiens.

    Science.gov (United States)

    Ghika, J

    2008-11-01

    Bipedal locomotion and fine motility of hand and larynx of humans introduced musculoskeletal adaptations, new pyramidal, corticostriatal, corticobulbar, nigrostriatal, and cerebellar pathways and expansions of prefrontal, cingular, parieto-temporal and occipital cortices with derived new brain capabilities. All selectively degenerate in aged homo sapiens following 16 syndromic presentations: (1) Parkinsonism: nigrostriatal control for fast automatic movements of hand, larynx, bipedal posture and gait ("simian gait and hand"). (2) Frontal (highest level) gait disorders (lower body parkinsonism, gait apraxia, retropulsion): prefrontostriatal executive control of bipedal locomotion. (3) ataxia: new synergistic coordination of bipedal gait and fine motility. (4) Dyskinesias (chorea, dystonia, tremor...): intrusions of simian basal ganglia motor subroutines. (5) motoneuron diseases: new proximo-distal and bulbar motoneurones, preserving older ones (oculomotor, abdominal...). (6) Archaic reflexes: prefrontal disinhibition of old mother/tree-climbing-oriented reflexes (sucking, grasping, Babinski/triple retraction, gegenhalten), group alarms (laughter, crying, yawning, grunting...) or grooming (tremor=scratching). (7) Dysautonomia: contextual regulation (orthostatism...). (8) REM sleep disorders of new cortical functions. (9) Corticobasal syndrome: melokinetic control of hand prehension-manipulation and language (retrocession to simian patterns). (10) Frontal/temporal lobe degeneration: medial-orbitofrontal behavioural variant: self monitoring of internal needs and social context: apathy, loss of personal hygiene, stereotypia, disinhibition, loss of concern for consequences of acts, social rules, danger and empathy; dorsolateral executive variant: inadequacy to the context of action (goal, environmental changes...); progressive non-fluent aphasia: executive and praxic processing of speech; temporal variant: abstract concepts for speech, gestures and vision (semantic

  1. 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.

  2. Fluorine-18-fluorodeoxyglucose positron emission tomography (PET) brain imaging patterns in patients with suspected X-linked dystonia parkinsonism (study in progress)

    International Nuclear Information System (INIS)

    Objective: X-linked dystonia-parkinsonism (XDP or Lubag) is an adult-onset dystonia syndrome that afflicts mostly Filipino men from the island of Panay, Philippines.It starts focally and becomes generalized or multifocal after the first five years. Parkinsonism is commonly encountered as the initial symptom before the onset of dystonia. Patients may manifest a wide spectrum of movement disorders, including myoclonus, chorea, akathisia, ballism and myorhythmia. Diagnosis is based on the clinical presentation, and the establishment of an x-linked recessive pattern of inheritance and maternal roots from the Panay Islands. Neuroimaging in advanced cases have demonstrated caudate and putaminal atrophy. Previous studies using PET have shown selective reduction in normalized striatal glucose metabolism. The purpose of this study is to describe the FDG distribution using PET imaging in Filipino patients with suspected or confirmed Lubag in various stages of their disease in order to determine if FDG-PET can be used in the initial diagnosis and staging of the disease. Methods and results: All patients presenting to the Movement Disorders Center of St. Lukes Medical Center with dystonia and Parkinsonism symptoms with X-linked recessive inheritance pattern and maternal roots traceable to the Panay Islands were sent for a Brain FDG PET Scan. Seven male patients with various movement disorders (dysarthria, face dystonia, Parkinsonism, hemibalismus, involuntary movements and rest tremors) with duration of symptoms from 1 to 5 years underwent a PET scan. All patients had non visualized bilateral putamen, four had hypometabolic caudate nuclei, one had intense (hypermetabolic) caudate nuclei. CT scan and MRI did not show any findings which may explain the movement disorder symptoms. More patients are being collected and gene typing is planned for some patients. Conclusions: This small series of patients demonstrate that patients with the phenotypic characteristics of X

  3. 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

  4. Proximal movements compensate for distal forelimb movement impairments in a reach-to-eat task in Huntington's disease: new insights into motor impairments in a real-world skill.

    Science.gov (United States)

    Klein, Alexander; Sacrey, Lori-Ann R; Dunnett, Stephen B; Whishaw, Ian Q; Nikkhah, Guido

    2011-02-01

    Huntington's disease (HD) causes severe motor impairments that are characterized by chorea, dystonia, and impaired fine motor control. The motor deficits include deficits in the control of the forelimb, but as yet there has been no comprehensive assessment of the impairments in arm, hand and digit movements as they are used in every-day tasks. The present study investigated the reaching of twelve HD subjects and twelve age-matched control subjects on a reach-to-eat task. The subjects were asked to reach for a small food item, with the left or the right hand, and then bring it to the mouth for eating. The task assesses the major features of skilled forelimb use, including orienting to a target, transport of the hand to a target, use of a precision grasp of the target, limb withdrawal to the mouth, and release of the food item into the mouth, and the integration of the movements into a smooth act. The movements were analyzed frame-by-frame by scoring the video record using an established movement element rating scale and by biometric analysis to describe limb trajectory. All HD subjects displayed greater reliance on more proximal movements in reaching. They also displayed overall jerkiness, a significant impairment in end point error correction (i.e. no smooth trajectories), deficits in timing and terminating motion (overshooting the target), impairments in rotation of the hand, abnormalities in grasping, and impairments in releasing the food item to the mouth. Although impairment in the control of the distal segments of the limb was common to all subjects, the intrusion of choreatic movements produced a pattern of highly variable performance between subjects. The quantification of reaching performance as measured by this analysis provides new insights into the impairments of HD subjects, allows an easily administered and inexpensive way to document the many skilled limb movement abnormalities, and relates the impairments to a real-world context. The protocol can

  5. 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.

  6. Influence of inhibitors of poly(ADP-ribose) polymerase on DNA repair, chromosomal alterations, and mutations.

    Science.gov (United States)

    Natarajan, A T; van Zeeland, A A; Zwanenburg, T S

    1983-01-01

    The influence of inhibitors of poly(ADP-ribose) polymerase such as 3-aminobenzamide (3AB) and benzamide (B) on the spontaneously occurring as well as mutagen induced chromosomal aberrations, sister chromatid exchanges (SCEs) and point mutations has been studied. In addition, we have measured the influence of 3AB on DNA repair following treatment with physical and chemical mutagens. Post treatment of X-irradiated mammalian cells with 3AB increases the frequencies of induced chromosomal aberrations by a factor of 2 to 3. Both acentric fragments and exchanges increase indicating that the presence of 3AB slows down the repair of DNA strand breaks (probably DNA double strand breaks), thus making breaks available for interaction with each other to give rise to exchanges. 3AB, when present in the medium containing bromodeoxyuridine(BrdUrd) during two cell cycles, increases the frequencies of SCEs in Chinese hamster ovary cells (CHO) in a concentration dependent manner leading to about a 10-fold increase at 10 mM concentration. Most 3AB induced SCEs occur during the second cell cycle, in which DNA containing bromouridine (BU) is used as template for replication. BU containing DNA appears to be prone to errors during replication. The extent of increase in the frequencies of SCEs by 3AB is correlated with the amount of BU incorporated in the DNA of the cells. The frequencies of spontaneously occurring DNA single strand breaks in cells grown in BrdUrd containing medium are higher than in the cells grown in normal medium and this increase depends on the amount of BU incorporated in the DNA of these cells. We have studied the extent of increase in the frequencies of SCEs due to 1 mM 3AB in several human cell lines, including those derived from patients suffering from genetic diseases such as ataxia telangiectasia (A-T), Fanconi's anemia (FA), and Huntington's chorea. None of these syndromes showed any increased response when compared to normal cells. 3AB, however, increased the

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

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    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

  8. As contribuições de Charcot e de Marsden para o desenvolvimento dos distúrbios do movimento nos séculos XIX e XX Contributions of Charcot and Marsden to the development of movement disorders in the 19th and 20th centuries

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    Hélio A.G. Teive

    2001-09-01

    Full Text Available Charcot contribuiu significativamente no século XIX na descrição de várias enfermidades neurológicas, em particular na área dos distúrbios do movimento. Charcot contribuiu de forma exponencial na descrição clínica minuciosa da doença de Parkinson, além de introduzir o primeiro tratamento farmacológico. Na área das hipercinesias realizou estudos sobre a síndrome de Tourette, o diagnóstico diferencial dos tremores, das coréias e o estudo inicial sobre startle. Marsden, recentemente falecido, destacou-se no século XX com inúmeras publicações na área dos movimentos anormais.São contribuições seminais os estudos sobre a doença de Parkinson, distonias, mioclonias , tremor essencial, a descrição das síndromes " Painful Legs Moving Toes ", "Gait Ignition Failure" e o "Tremor Primário da Escrita". As contribuições de Charcot no século XIX e de Marsden no século XX na área dos distúrbios do movimento permitem concluir que ambos foram as figuras mais representativas desta área nos últimos dois séculos.Charcot described many neurological diseases in the 19th century, particularly in movement disorders.Charcot contributed in the clinical description of Parkinson's disease, and introduced its first pharmacological treatment. He also studied the hyperkinesias, e.g. of Tourette syndrome, differential diagnosis of tremors, dystonias, choreas and startle disease. Marsden, who died recently, was an exponent in the study of Movement Disorders, with many publications in this field in the 20th century. His most important contributions are definitions and classifications of movement disorders, such as Parkinson's disease, dystonia, myoclonus, essential tremor, the description of the syndromes "Painful Legs Moving Toes", "Gait Ignition Failure" and "Primary Writing Tremor". The contributions of Charcot in the 19th century and Marsden in the 20th century to the movement disorders allow us to conclude that both of them were the most

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

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    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

  10. [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

  11. Estudo prospectivo das complicações da Doença de Kawasaki: análise de 115 casos Prospective study of Kawasaki Disease complications: review of 115 cases

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    Natália Ribeiro de M. Alves

    2011-06-01

    após a fase aguda da doença, eventualmente resultando em sequelas permanentes. Quanto mais precoce forem o diagnóstico e a intervenção terapêutica com a administração de IgG IV, menor será a ocorrência de complicações. Presença de trombocitose, anemia e de atividade inflamatória elevada e por tempo prolongado são fatores de risco para o aparecimento de complicações.OBJECTIVE: To draw attention to complications that might arise in any Kawasaki disease (KD stage, risk factors contributing to the onset of complications and possible transient or permanent disease sequelae. METHODS: Prospective study (clinical cohort conducted between April 2002 and April 2009 of 115 patients with KD admitted to the Pediatric Rheumatology Clinic of the General Hospital of the Federal District, Brazil. All patients were sequentially assessed with clinical and laboratory examinations, Doppler echocardiography, imitanciometry, auditory evoked potentials, psychological evaluation, ophthalmologic examination and, in one patient with chorea, cerebral magnetic resonance angiography. In all patients, a questionnaire assessing the possible presence of cognitive, emotional, behavioral and social disorders was applied. RESULTS: Twenty-five patients (21.7% had coronary aneurisms. Thirty eight patients (33% had a sensorineural auditory loss during the acute and subacute phases of the disease and 13 patients (11.3% maintained the auditory loss six months after the first assessment. Other complications observed were as follows: facial palsy in one patient (0.9%, ataxia in acute and subacute phases in 11 (9.5%; 15 patients had ophthalmologic complications (13.2%, with uveitis in 13, papilledema in one patient, and conjunctival hemorrhage in another patient. One patient experienced chorea (0.9%, with a magnetic resonance angiography showing changes consistent with cerebral ischemia. In one patient, a thoracic aorta aneurism was found (0.9% and another patient had a necrotizing vasculitis

  12. [Tic syndrome].

    Science.gov (United States)

    Czapliński, Adam; Steck, Andreas J; Fuhr, Peter

    2002-01-01

    A tic is an involuntary, sudden, rapid, recurrent, nonrrhythmic, stereotyped, motor movement or vocalization. This paper reviews clinical, pathophysiological, epidemiological and treatment issues of tic disorders. The clinical presentation of tic disorders with simple and complex motor or vocal tics is reviewed in detail. The most common psychiatric comorbid conditions, such as personality disorder (PD), Obsessive-Compulsive Disorder (OCD), Self-Destructive Behavior (SDB) and Attention Deficit Hyperactivity Disorder (ADHD) are presented too. All forms of tics may be exacerbated by anger or stress, but they are usually markedly diminished during sleep. Premonitory feelings or "sensory experiences", which are distinct from the actual motor or phonic tics and precede the tics, occur in over 80% of tic-patients and in 95% of patients with Gilles de la Tourette Syndrome (GTS). The American Psychiatric Association recognizes three types of tic disorders on the basis of clinical criteria: Transient Tic Disorder, Chronic Motor or Vocal Tic Disorder and GTS. The diagnostic criteria for these types are described. According to epidemiological data, up to 10% of children have at least somewhere a transient tic disorder. The onset of tics, whether simple or multiple, occurs at approximately 7 years of age. The accepted prevalence figure for GTS is 0.05-3%. Although tics can appear as the result of brain injury, Huntington chorea or encephalitis, they are most commonly idiopathic. Genetic factors appear to be present in many but not in all cases of tic disorders. Autosomal dominant, sex-linked models or semirecessive-semidominant-oligogenic models have been considered. Based on the review of the literature we believe that tic disorders are related to altered neurotransmitter function within the CNS, especially that the functional abnormality is somehow related to dopaminergic mechanism. Several authors have recently investigated the possible role of autoimmune response to

  13. 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

  14. PANDAS: uma nova doença? PANDAS: a new disease?

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    Sheila Knupp Feitosa de Oliveira

    2007-06-01

    pediatric disease. The name of this new disease, supposedly of poststreptococcal etiology, derives from an acronym that stands for pediatric autoimmune neuropsychiatric disease associated with streptococcal infection. Tics and obsessive-compulsive symptoms are the major clinical signs of the disease, which develop after streptococcal infections, probably through autoimmune mechanisms. Even though these neuropsychiatric symptoms are common in rheumatic chorea, whose etiology is also poststreptococcal, the classic choreiform movements and other symptoms of rheumatic fevers are absent in PANDAS. The use of antimicrobial and immunologic therapy has been investigated and considered feasible in some cases. CONCLUSIONS: Further research is still necessary in order to answer the question posed in the title of this article. In the meantime, the identification of tic disorders and obsessive-compulsive disorders in children should include the possibility of PANDAS, seeking to provide evidence of previous streptococcal infection.

  15. 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

  16. Neurobiologia da síndrome de Tourette: a hipótese auto-imune pós-estreptocócica Neurobiology of Tourette's syndrome: the autoimmune post-streptococcal hypothesis

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    Fernando Machado Vilhena Dias

    2008-01-01

    Full Text Available CONTEXTO: A síndrome de Tourette (ST caracteriza-se pela presença de tiques motores e pelo menos um tique fônico. Algumas semelhanças clínicas com a coréia reumática ou de Sydenham (CS incentivaram a formulação da hipótese da existência de um grupo de transtornos neuropsiquiátricos associados a processo auto-imune decorrente de infecção estreptocócica (PANDAS. OBJETIVO: Revisar a literatura quanto às evidências em relação à hipótese de que mecanismos auto-imunes pós-estreptocócicos estão envolvidos na etiopatogênese da ST. MÉTODOS: Revisão sistemática na base de dados MedLine com os termos "Tourette", "tic", "PANDAS", "antibodies", "streptococcal" e "rheumatic". RESULTADOS: Retornaram 238 artigos da busca. Selecionaram-se 53 trabalhos, os quais tiveram suas referências bibliográficas também revisadas. São apresentados os resultados de estudos que avaliaram aspectos imunes na ST, incluindo anticorpos antiestreptocócicos e antinúcleos da base, e sua terapêutica imunebaseada, discutindo a validade do conceito de PANDAS. CONCLUSÕES: As evidências ainda não são satisfatórias no que tange a uma base auto-imune pós-estreptocócica para a ST. Um aprimoramento dos métodos investigativos e na seleção das amostras pode trazer maiores contribuições à questão.BACKGROUND: Tourette's syndrome (TS is characterized by the presence of motor tics and at least one phonic tic. Some clinical similarities with Sydenham's chorea (SC lead to the hypothesis of a new group of disorders associated with an autoimmune process due to a streptococcal infection (PANDAS. Objective: To review the literature in search of evidence on the existence of post-streptococcal autoimmune mechanisms involved with the etiopathogenesis of TS. METHODS: A systematic review with the terms "Tourette", "tic", "PANDAS", "antibodies", "streptococcal" and "rheumatic" was carried on using the MedLine. RESULTS: The search found 238 articles. Fifty and

  17. 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

  18. Corticotrofina e cortiomdes em neurologia: avaliação critica dos resultados em 518 pacientes hospitalizados Corticotropin and corticosteroids in Neurology: critical evaluation of the results in 518 patients

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    J. Lamartine de Assis

    1968-12-01

    emprego. Em certos casos de evolução dramática o uso do ACTH e/ou corticóides torna-se quase imperativo.Based on the treatment with corticotrofin and corticosteroids of 518 patients admited at the "Clínica Neurológica do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo", in the period of 1952 to 1967, the authors performed a critical evaluation of the results obtained in several diseases of the nervous system: demyelinating diseases, polyradiculitis (Landry-Guillain-Barré syndrome, Sydenham's chorea, sabacute combined degeneration, hypsarrhytmia, myasthenia gravis, polymiositis, tuberculous meningitis and neurocysticercosis. ACTH or corticotrofin were employed intravenously or intramuscularly and the steroids were given orally or parenterally. The results with adrenal steroids or ACTH treatment were analysed under the treatment and preventive aspects. Concerning this aspect the analysis hás been limited, to tuberculous meningitis and neurocistycercosis cases. The evaluation of the therapeutic effects was based on clinical criterion and, when necessary, has been subordinated to an evolutive study concerning complementary examinations. Only immediate results based on general conditions of the patients at hospitalar discharge were reported. The authors conclude: 1. The corticotrofin and/or corticosteroids are used with favorable results in the treatment of several nervous system diseases as a therapeutic method as well as prophylactically. 2. Generally the results are difficult to evaluate and some times they depend on the nature and evolution of the disease and also on the period in which the treatment was established. 3. Regarding the therapeutic methods, the acute immunoallergic diseases or neuropathies with cyclical evolution those with a tendency to a progressive worsening and those with paroxystic manifestations responded in a better way to hormonal therapy. Some diseases which use to have an evolution with exacerbations and whose

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

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    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.

  20. 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

  1. Neurologic Manifestations of Childhood Rheumatic Diseases

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    Reza SHIARI

    2013-01-01

    . The American College of Rheumatology1990 criteria for the classification of Churg-Strauss syndrome (allergic granulomatosis and angiitis.Arthritis Rheum. 1990 Aug;33(8:1094-100. 46. Sehgal M, Swanson JW, DeRemee RA, Colby TV.Neurologic manifestations of Churg-Strauss syndrome.Mayo Clin Proc. 1995 Apr;70(4:337-41. 47. Twardowsky AO, Paz JA, Pastorino AC, Jacob CM,Marques-Dias MJ, Silva CA. Chorea in a child with Churg-Strauss syndrome. Acta Reumatol Port. 2010 Jan-Mar;35(1:72-5. 48. Kumar N, Vaish AK. Hemiplegia due to Churg Strauss syndrome in a young boy. J Assoc Physicians India.2011 Mar;59:172-3. 49. Pagnoux C, Seror R, Henegar C, Mahr A, Cohen P,Le Guern V et al. Clinical features and outcomes in 348 patients with polyarteritis nodosa: a systematic retrospective study of patients diagnosed between 1963 and 2005 and entered into the French Vasculitis Study Group Database. Arthritis Rheum. 2010 Feb;62(2:616-26. 50. Valeyrie L, Bachot N, Roujeau JC, Authier J, Gherardi R,Hosseini H. Neurological manifestations of polyarteritis nodosa associated with the antiphospholipid syndrome.Ann Med Interne (Paris. 2003 Nov;154(7:479-82. 51. Cellucci T, Benseler SM. Diagnosing central nervous system vasculitis in children. Curr Opin Pediatr. 2010 Dec;22(6:731-8. 52. Matsell DG, Keene DL, Jimenez C, Humphreys P. Isolated angiitis of the central nervous system in childhood. Can J Neurol Sci. 1990 May;17(2:151-4. 53. Calabrese LH, Furlan AJ, Gragg LA, Ropos TJ. Primary angiitis of the central nervous system: diagnostic criteria and clinical approach. Cleve Clin J Med. 1992 May- Jun;59(3:293-306. 54. Cekinmez EK, Cengiz N, Erol I, Kizilkilic O, Uslu Y. Unusual cause of acute neurologic deficit in childhood: primary central nervous system vasculitis presenting with basilar arterial occlusion. Childs Nerv Syst. 2009 Jan;25(1:133-6. 55. Benseler SM, Silverman E, Aviv RI, Schneider R, Armstrong D, Tyrrell PN. Primary central nervous system vasculitis in children. Arthritis Rheum. 2006