Evidence for a new spinocerebellar ataxia locus

Movement Disorders : Official Journal of the Movement Disorder Society
J J HigginsM H Polymeropoulos

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 is 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 similar 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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Citations

Aug 10, 2002·Current Neurology and Neuroscience Reports·Russell L Margolis
Nov 6, 2009·The Cerebellum·Antoni Matilla-DueñasPilar Latorre
Jan 23, 2016·Neurobiology of Disease·C J L M Smeets, D S Verbeek
Oct 7, 2000·Journal of Clinical Nursing·C Mackintosh, S Bowles
Aug 9, 2020·Frontiers in Neuroscience·Katherine J RobinsonAngela S Laird

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Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.