منابع مشابه
5 Spinocerebellar Ataxia Type 2
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 کاملSpinocerebellar 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...
متن کاملComparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.
We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR does no...
متن کاملSpinocerebellar ataxia type 2 in a Turkish family.
Autosomal dominant spinocerebellar ataxias are neurodegenerative disorders that generally present in adulthood. Due to extreme expansion of the repeat size during spermatogenesis, they can also be observed in childhood. The diagnosis in childhood is very difficult in the absence of family history. Here we describe an 8-year-old girl with spinocerebellar ataxia type 2 who presented with progress...
متن کاملLevodopa-induced dyskinesias in spinocerebellar ataxia type 2.
56-year-old Chinese woman presented to our clinic at age 46 with a 2-year history of progressive instability and impaired manual dexterity. Her initial physical examination revealed broad-based gait, mild dysmetria and facial fasciculations, later complicated by parkinsonian rigidity and bradykinesia. Her family history was notable for similar symptoms— predominantly ataxia—in 3 of her 5 siblin...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 1999
ISSN: 0003-9942
DOI: 10.1001/archneur.56.1.43