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

被引:44
作者
Vuillaume, I
Devos, D
Schraen-Maschke, S
Dina, C
Lemainque, A
Vasseur, F
Bocquillon, G
Devos, P
Kocinski, C
Marzys, C
Destée, A
Sablonnière, B
机构
[1] Ctr Hosp Reg & Univ, Hop R Salengro, Lab Biochim & Biol Mol, Unite Fonct Neurobiol, F-59037 Lille, France
[2] Lab Biochim & Biol Mol, Unite Fonct Neurobiol, Lille, France
[3] INSERM, U422, F-59045 Lille, France
[4] Hop R Salengro, Federat Neurol, Lille, France
[5] CNRS, UPRESA 8090, Inst Biol Lille, Lille, France
[6] Ctr Natl Genotypage, Evry, France
关键词
D O I
10.1002/ana.10344
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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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页码:666 / 670
页数:5
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