Age-dependent gait abnormalities in mice lacking theRnf170gene linked to human autosomal-dominant sensory ataxia
نویسندگان
چکیده
منابع مشابه
Autosomal dominant hereditary ataxia in Sri Lanka
BACKGROUND Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genet...
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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: Human Molecular Genetics
سال: 2015
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddv417