[Spinocerebellar ataxia type 8(SCA 8)].
نویسندگان
چکیده
منابع مشابه
The molecular genetics of the spinocerebellar ataxias
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...
متن کاملFrequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.
BACKGROUND Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders. The mutational basis for most of these disorders is an expanded CAG repeat sequence within the coding regions of the genes involved. The prevalence of SCA in the ethnic Chinese on Taiwan remains unclear. Moreover, there has been no report of SCA type 6 (SCA6) among Chinese people. OBJECTIVES To ch...
متن کاملSpinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.
OBJECTIVES To establish whether the DNA expansion linked to spinocerebellar ataxia type 8 (SCA 8) is associated with ataxia in Scotland; to clarify the range of associated clinical phenotypes; and to compare the findings with previous reports. METHODS DNA was screened from 1190 anonymised controls, 137 subjects who had tested negative for Huntington's disease, 176 with schizophrenia, and 173 ...
متن کاملPrevalence of autosomal dominant cerebellar ataxia in Aomori, the northernmost prefecture of Honshu, Japan.
OBJECTIVE The frequency of autosomal dominant cerebellar ataxia (ADCA) varies between different regions of Japan. This is the first report on the prevalence of ADCA subtypes in Aomori, Japan. METHODS AND PATIENTS Sixty-five familial spinocerebellar ataxia (SCA) patients and 15 sporadic SCA patients were genetically examined. For only the SCA2 patients (n = 8), the magnetic resonance imaging (...
متن کاملFrequency Analysis of Autosomal Dominant Cerebellar Ataxias in Taiwanese Patients and Clinical and Molecular Characterization of Spinocerebellar Ataxia Type 6
Patients and Methods: Using a molecular approach, we investigated SCA in 74 Taiwanese families with dominantly inherited ataxias and in 49 Taiwanese patients with sporadic ataxias. Clinical and molecular features of SCA6 were further characterized in 12 patients from 8 families and in 2 sporadic cases. Furthermore, the intragenic polymorphic marker D19S1150 was amplified by polymerase chain rea...
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عنوان ژورنال:
- No to shinkei = Brain and nerve
دوره 53 1 شماره
صفحات -
تاریخ انتشار 2001