Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0008489 (chorea)
 2,102 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a patient with dentatorubral-pallidoluysian atrophy (DRPLA). She developed normally until the age of 6 month, when she could sit by herself. However, her psychomotor development was subsequently slow with gradual appearance of equilibrium disturbances and involuntary movements such as polymyoclonia and chorea. Her development deteriorated after myoclonic seizures developed at 4.5 years of age. Electroencephalograms showed semi-continuous bursts of diffuse irregular spike-wave complexes and MRI of the brain showed atrophy of the cerebellum and brainstem, and high signal intensities in the posterior periventricular triangle portion on T2-weighted images. Gene analysis performed at the age of 6 years revealed an expanded CAG repeat (17/74) at the DRPLA locus. The CAG repeat size was larger in this case than in cases of the adult and juvenile types with later onset, suggesting a correlation between repeat length and age at onset. Genetic examination of the family members was not performed because of her mother's fear and emotional confusion.
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PMID:[Case of dentatorubral-pallidoluysian atrophy with onset of psychomotor retardation in infancy]. 1546 Oct 30

In order to understand the correlation between the clinical and neuroimaging manifestations and the long-term prognosis in delayed encephalopathy after carbon monoxide (CO) intoxication, we retrospectively reviewed 12 patients who had delayed encephalopathy from 89 patients with CO intoxication. There were 8 men and 4 women, with a mean age of 54.4 +/- 17.2 years (range: 11-79 years). All patients had prominent consciousness disturbance in the acute stage and received high flow of O2 or hyperbaric oxygen therapy. All of them regained consciousness within 1-7 days, but subsequently developed delayed encephalopathy. The delayed encephalopathy occurred from 14 to 45 days after recovery from the acute stage. The clinical manifestations included cognitive impairment, akinetic mutism, sphincter incontinence, gait ataxia and extrapyramidal syndromes such as chorea, dystonia, and parkinsonism. Brain MRI revealed multiple lesions in the subcortical white matter and basal ganglia, mostly in the globus pallidus, and to a lesser degree in the putamen, and caudate. In the follow-up period, sphincter incontinence first disappeared. The cognitive impairment improved greatly in the following few months, but the involuntary movements were improved only slightly. Some patients had persistent neurological sequelae, such as dystonia. Similary, the follow-up brain MRI showed a steady improvement. In conclusion, the delayed encephalopathy usually developed 2 weeks to 1.5 months after the acute phase of CO intoxication. Globus pallidus and subcortical white matter were commonly involved. The neurological manifestations improved and correlated roughly with the neuroimaging changes.
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PMID:Delayed encephalopathy after carbon monoxide intoxication--long-term prognosis and correlation of clinical manifestations and neuroimages. 1547 74

We describe a 68 year-old Chinese man who presented with segmental dystonia involving the neck and right upper limb, which was exacerbated with action. EEG and MRI of the cervical spine were unremarkable, but MRI of the brain revealed a small cavernous angioma measuring one centimeter in diameter in the left centrum semiovale. The dystonia was ameliorated but not abolished with trihexyphenidyl. Arteriovenous malformations have been described to cause movement disorders, but dystonia has not previously been reported in association with cavernous angiomas. A search of the literature revealed one report of a patient with chorea arising from a cavernous angioma. This interesting case illustrates how an uncomplicated cavernous angioma can rarely cause segmental dystonia and highlights the importance of neuroimaging in patients with late-onset movement disorders.
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PMID:Symptomatic segmental dystonia from a cavernous angioma in the centrum semiovale. 1561 65

A 40-year-old Chinese man was admitted with 1-2 Hz spasmodic truncal flexion resembling myoclonus. He was known to be thyrotoxic, and had defaulted antithyroid therapy. Clinical examination revealed truncal flexion from contraction of the rectus abdominis, with no involvement of limbs or face and no jerking in sleep. He was biochemically thyrotoxic. Treatment with clonazepam and propylthiouracil resulted in resolution of the myoclonic jerks within the next 3 weeks. He stopped taking clonazepam within the next 3 months with no recurrence of myoclonus. He remained well until he stopped taking his antithyroid medications 9 months later, when he developed spasmodic truncal jerking again. Biochemical tests confirmed that he was hyperthyroid at this time. These movements ceased within a month of compliance with antithyroid therapy, and he has been well since. MRI of the brain and thoracic spine were unremarkable. Thyrotoxicosis is known to cause chorea and tremors, and has rarely been described in association with myoclonus.
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PMID:Graves' disease associated with spasmodic truncal flexion. 1573 71

Spinocerebellar ataxias (SCAs) are a clinically heterogeneous group of disorders. Current molecular classification corresponds to the order of gene description (SCA1-SCA 25). The prevalence of SCAs is estimated to be 1-4/100,000. Patients exhibit usually a slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and/or ataxic gait. They can present also with pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioral symptoms), peripheral neuropathy. SCAs are also genetically heterogeneous and the clinical diagnosis of subtypes of SCAs is complicated by the salient overlap of the phenotypes between genetic subtypes. The following clinical features have some specific values for predicting a gene defect: slowing of saccades in SCA2, ophthalmoplegia in SCA1, SCA2 and SCA3, pigmentary retinopathy in SCA7, spasticity in SCA3, dyskinesias associated with a mutation in the fibroblast growth factor 14 (FGF 14) gene, cognitive impairment/behavioral symptoms in SCA17 and DRPLA, seizures in SCA10, SCA17 and DRPLA, peripheral neuropathy in SCA1, SCA2, SCA3, SCA4, SCA8, SCA18 and SCA25. Neurophysiological findings are compatible with a dying-back axonopathy and/or a neuronopathy. Three patterns of atrophy can be identified on brain MRI: a pure cerebellar atrophy, a pattern of olivopontocerebellar atrophy, and a pattern of global brain atrophy. A remarkable observation is the presence of dentate nuclei calcifications in SCA20, resulting in a low signal on brain MRI sequences. Several identified mutations correspond to expansions of repeated trinucleotides (CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and DRPLA, CTG repeats in SCA8). A pentanucleotide repeat expansion (ATTCT) is associated with SCA10. Missense mutations have also been found recently. Anticipation is a main feature of SCAs, due to instability of expanded alleles. Anticipation may be particularly prominent in SCA7. It is estimated that extensive genetic testing leads to the identification of the causative gene in about 60-75 % of cases. Our knowledge of the molecular mechanisms of SCAs is rapidly growing, and the development of relevant animal models of SCAs is bringing hope for effective therapies in human.
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PMID:The wide spectrum of spinocerebellar ataxias (SCAs). 1589 52

Chorea is a rare manifestation of paraneoplastic disease and is associated with CV2/CRMP-5 antibodies. Obsessive-compulsive disorder and large-scale white matter abnormalities on MRI have not been previously reported in association with these antibodies. We report on a case of CV2 paraneoplastic syndrome with obsessive-compulsive behavior preceding the motor manifestations of chorea with associated leukoencephalopathy on MRI. The literature on paraneoplastic chorea is reviewed.
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PMID:Paraneoplastic chorea with leukoencephalopathy presenting with obsessive-compulsive and behavioral disorder. 1603 14

An 86-year-old woman was admitted to our hospital for orobuccolingual dyskinesia. She did not take any medication. Her relatives had no similar symptoms nor consanguineous marriage. Although orobuccolingual dyskinesia was improved by administration of haloperidol for a while, orobuccolingual dyskinesia with biting of tongue and lips, chorea and muscular atrophy in the legs, seizures and dementia appeared half a year after the onset. The decrease of cMAP suggested axonopathy in the extremities by a nerve conduction study. The serum level of CK was normal. The EEG showed generally slow wave activities. A head MRI showed mild atrophy of the bilateral caudate nuclei and frontal lobes with scattered old lacunars in the deep white matter. She was diagnosed as having chorea-acanthocytosis (ChAc) because acanthocytes (10-20%) appeared in the peripheral blood. The normal lipoprotein levels and Kell antigen expression excluded the possibilities of Bassen-Kornzweig syndrome and McLeod syndrome. In all reported cases of ChAc, she was the oldest onset patient. ChAc is warranted in a patient presenting with orobuccolingual dyskinesia with biting, in spite of elderly onset.
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PMID:[A case of chorea-acanthocytosis onset with at age 86]. 1618 Jul 11

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.
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PMID:Neurological manifestations of Ehlers-Danlos Syndrome. 1623 Aug 7

We report the video-polysomnographic sleep characteristics of a 25-year-old woman with the Mulvihill-Smith syndrome, a rare clinical condition characterized by progeria-like aspect, peculiar multiple pigmented nevi, low stature, and cognitive impairment. Among the various exams, two overnight video-polysomnographic recordings were carried out; moreover, cerebral MRI and molecular analysis of the prion protein gene (PRNP) were also performed. The video-polysomnographic recordings showed the absence of clear sleep episodes but the presence of periods during which the patient had poor contact with the environment, stereotyped afinalistic movements of the upper limbs and hands, irregular or periodic breathing (with central apnea episodes), heart rate arrhythmia, and rapid eye movements. Cerebral MRI showed only diffuse mild enlargement of the cortical sulci and the molecular genetics analysis of the PRNP was normal. Our clinical and neurophysiological study seems to indicate that a particular condition of severe sleep disruption, similar to some extent to that reported in the fatal familial insomnia and in the Morvan fibrillary chorea, which has been indicated as Agrypnia Excitata in recent literature, might be associated with the Mulvihill-Smith syndrome. The inclusion of a detailed study on the sleep characteristics of eventual additional patients will certainly help our understanding of this rare condition.
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PMID:Agrypnia excitata in a patient with progeroid short stature and pigmented Nevi (Mulvihill-Smith syndrome). 1636 48

We report a 56-year-old man with adult-onset Sydenham chorea. Since January 2003, he had often troubled other persons, and in October 2003, following an episode of fever in August of the same year, he noticed left shoulder joint pain and involuntary movements of his limbs, especially on the left side. These involuntary movements gradually worsened and he became unable to converse due to psychiatric symptoms. On admission, neurological examination revealed dementia, emotional incontinence, abnormal behavior and chorea in four limbs. Brain MRI disclosed swelling of bilateral caudate heads that was more marked on the right side. Hypermetabolism in bilateral caudate nuclei, especially on the right, was found on FDG-PET study, which was compatible with his left side-dominant chorea and might reflect inflammation as a nature. A gallium scintigram demonstrated excess accumulations in the plural joints of his extremities, which gradually decreased in parallel with joint pain relief. The present case was diagnosed as Sydenham chorea, because of the presence of arthritis, chorea, fever, increased erythrocyte sedimentation rate and elevated CRP. We believe that this is a first report of adult-onset Sydenham chorea accompanied with psychiatric symptoms.
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PMID:[A case of adult-onset Sydenham chorea accompanied with psychiatric symptoms]. 1651 13


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