Spinocerebellar ataxia type 1: observation of the family with a homozygous inheriting of the gene
Abstract
Clinical-genealogical observation of a family with five sick siblings where both parents suffered from spinocerebellar ataxia type 1 was carried out. In all five children (siblings) on the results of genetic testing a mutation in SCA1 gene on chromosome 6p was revealed. The result of the quantitative analysis of the mutated gene SCA1 among siblings revealed two homozygotes.
About the Authors
N. V. Yakovleva
НИИ здоровья СВФУ им. М.К. Аммосова
Россия
Россия
F. A. Platonov
НИИ здоровья СВФУ им. М.К. Аммосова
Россия
Россия
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Review
For citations:
Yakovleva N.V., Platonov F.A. Spinocerebellar ataxia type 1: observation of the family with a homozygous inheriting of the gene. Yakut Medical Journal. 2012;(4):85-87. (In Russ.)
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