Writer’s cramp in spinocerebellar ataxia Type 1
نویسندگان
چکیده
منابع مشابه
Spinocerebellar ataxia type 6.
We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely ava...
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The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections. The degenerative process may additionally involves the pontomedullar systems, pyramidal tracts, basal ganglia, cerebral cortex, peripheral nerves (ADCA I) and the retin...
متن کاملRod-cone dystrophy in spinocerebellar ataxia type 1.
tein is possible. It is difficult to propose that the complete unilaterality of the disease in this patient is due to differences in environmental or genetic exposures between the two eyes. One possibility might be a somatic mutation in a progenitor cell during the development of the unaffected retinal tissue that ameliorates the effect of the mutation. To conclude, this represents the first re...
متن کاملSpinal cord atrophy in spinocerebellar ataxia type 1.
A 50-year-old man presented with 9-years history of pro gressive ataxia. His father had undiagnosed ataxia. Exa mi nation showed ataxia and pyramidal signs. Brain MRI: olivopontocerebellar atrophy; spine MRI: global spinal cord atrophy (Figure). Genetic test confirmed spinocerebellar ataxia type-1 (SCA1). SCA1 is characterized by cerebellar ataxia with va riable degrees of ophthalmoplegia, pyra...
متن کاملCognitive impairment in spinocerebellar ataxia type 8.
OBJECTIVES Only a limited number of studies have investigated the cognitive performances of spinocerebellar ataxia (SCA) patients. In none of the SCA8 studies have the neuropsychological test performances been the primary measures. The objective of the current study was to investigate the characteristics of cognitive deficits in SCA8. METHODS Ten SCA8 patients and ten case-by-case matched con...
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ژورنال
عنوان ژورنال: Journal of Neurosciences in Rural Practice
سال: 2016
ISSN: 0976-3147,0976-3155
DOI: 10.4103/0976-3147.186980