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A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3‐p15.1
Author(s) -
Vuillaume Isabelle,
Devos David,
SchraenMaschke Susanna,
Dina Christian,
Lemainque Arnaud,
Vasseur Francis,
Bocquillon Guy,
Devos Patrick,
Kocinski Carole,
Marzys Christiane,
Destée Alain,
Sablonnière Bernard
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10344
Subject(s) - spinocerebellar ataxia , locus (genetics) , ataxia , genetics , biology , neuroscience , gene
We investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all previously identified genes and loci. The patients exhibited a slowly progressive gait and limb ataxia variably associated with akinesia, rigidity, tremor, and hyporeflexia. A mild cognitive impairment also was observed in some cases. We performed a genomewide search and found significant evidence for linkage to chromosome 7p21.3‐p15.1. Analysis of key recombinants and haplotype reconstruction traced this novel spinocerebellar ataxia locus to a 24cM interval flanked by D7S2464 and D7S516.