A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3‐p15.1 | Zendy

Vuillaume Isabelle | Zendy; Devos David | Zendy; SchraenMaschke Susanna | Zendy; Dina Christian | Zendy; Lemainque Arnaud | Zendy; Vasseur Francis | Zendy; Bocquillon Guy | Zendy; Devos Patrick | Zendy; Kocinski Carole | Zendy; Marzys Christiane | Zendy; Destée Alain | Zendy; Sablonnière Bernard | Zendy

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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.

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