Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan
نویسندگان
چکیده
منابع مشابه
Frequency 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 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...
متن کاملAutosomal dominant spinocerebellar ataxias
Key-words Disease name and synonyms Diagnostic criteria / Definition Classification Prevalence Clinical description Differential diagnosis Management Diagnostic methods Genetic counselling Outlook References
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Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in intron 1 of NOP56. Family interview and document research allowed us to reconstruct two extensive, multigenerational kindreds stemming from the same village (Costa da Morte in Galicia, Spain), in the 17th century...
متن کاملGenetic heterogeneity of autosomal dominant nonprogressive congenital ataxia.
We studied a family with nonprogressive congenital ataxia (NPCA) previously reported in 1985. Follow-up evaluation documented a nonprogressive course. Older family members developed ataxic spells and vertical oscillopsia triggered by stress and exercise. Linkage analysis using a 10K single-nucleotide polymorphism array found suggestive linkage to four loci on chromosomes 1q44, 5q35.1-35.3, 7q36...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2009
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2009.44