Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11

Laura P.W. Ranum, Lawrence J. Schut, Julie K. Lundgren, Harry T. Orr, Dennis M. Livingston

Research output: Contribution to journalArticlepeer-review

286 Scopus citations

Abstract

Autosomal dominant ataxias are a genetically heterogeneous group of disorders for which spinocerebellar ataxia (SCA) loci on chromosomes 6p, 12q, 14q and 16q have been reported. We have examined 170 individuals (56 of whom were affected) from a previously unreported ten-generation kindred with a dominant ataxia that is clinically and genetically distinct from those previously mapped. The family has two major branches which both descend from the paternal grandparents of President Abraham Lincoln. Among those examined, 56 individuals have a generally non-life threatening cerebellar ataxia. Disease onset varies from 10–68 years and anticipation is evident. We have mapped this gene, spinocerebellar ataxia type 5 (SCA5), to the centromeric region of chromosome 11.

Original languageEnglish (US)
Pages (from-to)280-284
Number of pages5
JournalNature Genetics
Volume8
Issue number3
DOIs
StatePublished - Nov 1994

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