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Evidence for a new spinocerebellar ataxia locus

✍ Scribed by Dr. J. J. Higgins; L. T. Pho; S. E. Ide; L. E. Nee; M. H. Polymeropoulos

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 913 KB
Volume: 12
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.870120322

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

The autosomal dominant ataxias (ADA) are a diverse group of multisystem, neurodegenerative disorders characterized by mutations at several chromosomal loci (SCA types 1–5, SCA type 7, DRPLA). We excluded all the known SCA loci by mutational and linkage analyses in an American family of British origin with ADA and document that an additional ataxia locus must exist. The clinical characteristics and ethnic origin of our family are similiar to the British Drew family of Walworth with the SCA type 3 mutation and differ from other families without a known ataxia locus. Individuals in our family and the Drew family initially show signs of ataxia but may develop variable degrees of ophthalmoplegia, Parkinsonian features and central demyelination. The phenotypic diversity in families without a known ataxia locus suggests that there may be several other undefined ataxia loci.

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