Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6.
作者信息
Rich S S, Wilkie P, Schut L, Vance G, Orr H T
机构信息
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455.
出版信息
Am J Hum Genet. 1987 Oct;41(4):524-31.
Abstract
Inherited spinocerebellar ataxias (SCA) are progressively degenerative neurological diseases. The primary site of degeneration is the cerebellar cortex--in particular, the Purkinje cells. In the present report, the SCA locus, inherited as an autosomal dominant trait in a large kindred, is localized to a region approximately 15 centimorgans telomeric of HLA-A on the short arm of chromosome 6.
摘要
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