5 Spinocerebellar Ataxia Type 2
نویسندگان
چکیده
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 retina (ADCA II), or can be limited to the cerebellum (ADCA III) (Harding et al., 1993).
منابع مشابه
O-42: Expansion of CAG Repeats in theSpinocerebellar Ataxia Type 1 (SCA1) Gene inIdiopathic Oligozoospermia Patients
Background: The lengths of CAG repeats in two spinocerebellar ataxia genes, SCA1 and SCA3, were analyzed to determine whether such repeats exist in higher numbers in infertile males. Materials and Methods: Blood samples were collected from healthy controls, oligozoospermia patients, and azoospermia patients. DNA fragments containing target CAG repeats were amplified by PCR with template DNA pur...
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The spinocerebellar ataxias (SCA) are a group of autosomal dominantly inherited ataxias that are clinically characterised by progressive ataxia. Until now, 13 genetically distinct SCA subtypes have been identified. In 5 of these disorders (SCA1, SCA2, SCA3, SCA6, SCA7), the mutation is a translated, expanded CAG repeat. SCA8 is caused by a CTG expansion in the 3 untranslated region, SCA10 by an...
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Spinocerebellar ataxia type 6 (SCA6) is one of multiple autosomal dominant progressive ataxias due to unstable trinucleotide repeat gene sequences. Overall prevalence of SCA6 is estimated to be 5:100,000 [1]. Carrier rates of the full-penetrance allele vary by geographic location, presumably due to founder effect, with the highest frequency observed in Japan (about 30%) followed by the United S...
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