Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a non-Jewish, Anglo-Saxon, American family, in which one sibling has dystonia, a second has cerebellar ataxia, and a third has a combination of dystonia and ataxia. All three siblings have pyramidal signs. Their mother and maternal uncle have tremor, and their maternal grandmother may have had a neurodegenerative disorder. Although the inheritance pattern is uncertain, this may represent phenotypic variability resulting from a single gene mutation. The multiple phenotypes within this family do not fit any known inherited neurodegenerative or metabolic disorder.
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PMID:Cerebellar ataxia, dystonia, and tremor within a family: variable phenotypes of a single genetic disorder? 819 75

The authors present the clinico-pathological findings in a member of a family residing in Akita Prefecture located in the north-eastern region of Japan. Four members in three generations of the family developed ataxia. The autopsied patient was a 42-year-old woman, who, at the age of 25, had developed progressive cerebellar ataxia with pyramidal spasticity and increased deep tendon reflexes predominant in the lower extremities. However, she retained fine movement of the hands and fingers and showed no dysarthria until the age of 35. She could no longer walk unassisted at 38 years old. She showed cerebellar ataxia in both hands and legs, dysarthria, bulging eyes, progressive extraoculomotor palsy with nystagmus, bradykinesia, sensory disturbance, and dystonia in the face, upper extremities, and fingers. Deep tendon reflexes were decreased, especially in the lower extremities. Subacute generalized muscular atrophy developed at the age of 39. She became bedridden and died of pneumonia. The clinical diagnosis was Type-2 of the entity known in Japan as Machado-Joseph disease. At neuropathological examination, the brain weight was 1,250 g. The spinocerebellar system including Clarke's column and the spinocerebellar tracts were degenerated, but the cerebellar cortex and inferior olivary nucleus were spared. Slight-to-moderate degeneration was observed in the pontocerebellar system. In the dentate nucleus, most of the neurons showed what is known in Japan as "grumose degeneration", but there was no neuronal loss or gliosis. The hilus of the dentate nucleus and the superior cerebellar peduncle were intact.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsied case of type 2 Machado-Joseph's disease or spino-pontine degeneration]. 821 97

This study was undertaken to characterize the food intake, current feeding situation and nutritional status of children with cerebral palsy and myelomeningocoele. Thirty children with cerebral palsy and 14 with myelomeningocoele were investigated. The children with cerebral palsy were subgrouped into those with diplegia (11 children), dystonia (10 children), hemiplegia (6 children) and ataxia (3 children). Information was obtained from medical records, current dietary recording and clinical and anthropometric examinations. Feeding problems, low energy intake and wasting were frequent among the children with cerebral palsy, particularly those with the dystonic form. Children with myelomeningocoele gave the impression of being overnourished, despite a seemingly relatively low energy intake. It is clear that nutritional and feeding aspects should receive particular attention in the habilitation of children with various disabilities.
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PMID:Feeding and nutritional problems in children with cerebral palsy and myelomeningocoele. 824 37

A 35-year-old female was reported who presented early onset and slowly progressive ataxia and retrocollis which appeared at the age of nine. On admission, neurological examination revealed cerebellar ataxia, dystonia of the neck and the right arm, myoclonus of the neck and the shoulder, slight mental retardation, supranuclear upper gaze palsy, and sensorineural hearing loss. Laboratory examination showed high serum CK activity. Electromyography and muscle biopsy findings suggested slight muscular involvement. CSF level of HVA and 5-HIAA were reduced. MRI demonstrated marked cerebellar atrophy and slight atrophy of the brain stem. To our knowledge, the characteristic combination of the neurological sign in this case has not been reported. This case was compared with EOCA (early onset cerebellar ataxia with retained tendon reflexes) and other juvenile onset cerebellar ataxia and dystonia.
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PMID:[A case of juvenile onset ataxia with dystonia, myoclonus, sensorineural hearing loss and mental retardation]. 826 7

Genetic considerations in movement disorders are described. 1) Familial parkinsonisms are heterogeneous; genes for two of them, 'Lubag' and Waisman syndrome have been mapped to X chromosome, though genes for others do not have been mapped. 2) The responsible gene for Huntington's disease has been cloned recently and named huntingtin. A (CAG)n repeat longer than the normal range was observed in huntingtin gene. The (CAG)n repeat appears to be located within the coding sequence of a predicted approximately 348 kD protein that is widely expressed but unrelated to any known gene. The expansion of an unstable trinucleotide CAG repeat are also the causes of hereditary neurodegenerative diseases such as X-linked bular and spinal muscular atrophy and spinocerebellar ataxia type 1. 3) There are various forms in hereditary dystonia. Although the responsible gene for idiopathic torsion dystonia, inherited as an autosomal dominant pattern, has been mapped to 9q 32-34, genes for others do not have been mapped. 4) The Gilles des la Tourette syndrome (GTS) is a hereditary, neuropsychiatric-neurobehavioral disorder with childhood onset that is characterized by motor and vocal tics. About 80% of the human genome could be excluded as possible site for the GTS gene by studies with over 600 DNA markers in an international collaborative effort, but actual localization has not yet been accomplished.
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PMID:[Genetics in movement disorders]. 827 74

We studied a large pedigree with dominant spinocerebellar ataxia, genetically and clinically. At now, 27 members over 5 generations have been affected. Linkage study for the disease locus to D6S89 in a total of 44 individuals showed maximum lod scores of 3.99 at theta = 0.000. This result indicates that the disease locus of this pedigree locates near D6S89 on chromosome 6p (SCA 1). We studied 17 patients clinically. Mean age at onset was 37.7 +/- 8.6, and mean duration after onset was 11.3 +/- 6.8 years. Their clinical features were characterized by progressive ataxia, pyramidal involvement with hyperreflexia or spasticity, and mild posterior column involvement. Mild gaze nystagmus at early stage became unclear with the progress of illness. The frequent signs in the advanced stage were diffuse amyotropy, twitching of face or tongue, bulbar palsy, slow saccade, external ophthalmoparesis, mydriasis, coarse postural tremor, and dementia with emotional disturbance. There are so much clinical similarities between our pedigree and other SCA 1 pedigrees in the literature. Generally, SCA 1 shows hyperreflexia, spasticity, and terminal slow saccade. On the other hand, non-SCA 1 type OPCA is characterized by progressive hyporeflexia, slow eye movement from early stage, and frequent choreoathetosis. Gaze nystagmus, external ophthalmoparesis, amyotrophy, and spasticity are common in both SCA 1 and Machado-Joseph disease (MJD). However, they are more frequent in MJD than SCA 1. Moreover, extrapyramidal signs, such as dystonia, are rare is SCA 1. Based on these difference, SCA 1 could be clinically differentiated from other similar hereditary ataxias.
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PMID:[Spinocerebellar ataxia 1--clinical study of 17 patients in a large pedigree]. 836 44

To evaluate the topographical neurological distribution, patterns of abnormal tone and related functional neuromotor impairment after grade 3 and grade 4 intraventricular/periventricular haemorrhage (IPVH), 33 children with previous grade 3 or 4 IPVH of mean gestational age 30.9 weeks (range 25-40 weeks) and mean birth weight 1743 g (range 866-3600 g) were examined neurologically at 4.7 years (range 0.75-10.8 years). Neurological signs were absent in 10/33 cases which were equally distributed between the grade 3 and grade 4 IPVH groups. The largest single topographical neurological distribution was hemiparesis in 8/23, followed jointly by diplegia (cerebral paraplegia) in 6/23 and triplegia in 6/23 cases and finally quadriplegia in 3/23 cases. Grade 4 IPVH tended to result in asymmetrical syndromes, accounting for 7/8 cases of hemiparesis and 5/6 cases of triplegia, whereas all 3/3 cases of quadriplegia followed grade 3 IPVH. The 6/23 cases of diplegia were shared between the grade 3 and grade 4 IPVH groups. Tone was normal in 7/8 of the hemiparetic subjects. Dystonia was the commonest tone abnormality, affecting 8/23 children with neurological disturbance, followed by ataxia/hypotonia in 4/23 and mixed dystonia/hypotonia in 3/23. Only 1/23 cases had signs of spasticity. Spasticity is rare following severe IPVH. Diplegic children had a better functional neuromotor grade than hemiparetic children, who in turn did better than triplegic children. Ataxia hypotonia resulted in better functional outcome than dystronia, which in turn was more favourable than mixed tone patterns. Cranial imaging by ultrasound (US) or computed tomographic (CT) scanning proved an unreliable prognostic indicator except in the case of hemiparesis, for which US scans correctly predicted the affected side in 5/7 cases. The neurological syndromes following severe IPVH differ from the classical encephalopathy of prematurity, and this should lead to a re-appraisal of the trends in the prevalence of cerebral palsy. Caution should be exercised in the interpretation of cranial imaging with regard to pessimistic prognoses in the presence of changes or undue optimism in their absence.
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PMID:Heterogeneity of neurological syndromes in survivors of grade 3 and 4 periventricular haemorrhage. 840 2

This report describes a patient with degenerative type of progressive myoclonus epilepsy (PME), who showed slowly progressive deterioration of the central nervous system; intellectual impairment, dysarthria, and involuntary movements, particularly action myoclonus and dystonia. The patient was a 19-year-old woman who had no hereditary factors. At the age of 4, she developed action myoclonus in the upper limbs bilaterally. Her condition became gradually worse, and at the age of 15, she was admitted to our hospital because of involuntary movement in the upper limbs. First physical examination revealed mild mental retardation, action myoclonus, dystonia, and delayed adolescence. As giant SEP characteristic of PME and Ramsay Hunt syndrome was found, she was tentatively diagnosed as having Ramsay Hunt syndrome without epilepsy, and delayed adolescence. Now, she is 19 years old, and unable to walk alone because of involuntary movements and paralysis. But she has not developed epilepsy. As she has not been compatible with progressive myoclonus epilepsy (PME) and progressive myoclonic ataxia (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical PME syndrome.
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PMID:[A case of degenerative type of progressive myoclonus epilepsy]. 841

Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to a sensory ataxia. We have identified and cloned a gene encoded at the dt locus. The product of the dt gene, dystonin, is a neural isoform of a hemidesmosomal protein bullous pemphigoid antigen 1 (bpag1). To investigate the potential role of dystonin in human neuropathies, we have cloned the neural-specific 5' exons of the human DT gene that together with the previously cloned BPAG1 sequences comprise human dystonin. The mouse and human dystonin genes demonstrate the same spectrum of alternatively spliced products, and the amino acid sequences of the neural-specific exons in the mouse and human genes are over 96% identical.
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PMID:Cloning and characterization of the neural isoforms of human dystonin. 857 75

We describe a case of a patient with Creutzfeldt-Jakob disease (CJD) characterized by a rapid clinical course lasting one and a half months, by: presence of focal dystonic movements at onset, absence of mental deterioration in the period preceding the impairment of consciousness, ataxia, myoclonus and periodic EEG abnormalities. The autopsy confirmed subacute spongiform encephalopathy, but no evident neuronal loss was observed. An acute clinical course of CJD may explain this latter histological finding which, in turn, probably provides an explanation for the absence of intellectual impairment.
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PMID:Rapidly progressive form of Creutzfeldt-Jakob disease without dementia: a case report. 870 72


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