脊髓小脑共济失调（SCA21）的一个新基因座定位于7号染色体p21.3 - p15.1区域。

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

作者信息

Vuillaume Isabelle, Devos David, Schraen-Maschke Susanna, Dina Christian, Lemainque Arnaud, Vasseur Francis, Bocquillon Guy, Devos Patrick, Kocinski Carole, Marzys Christiane, Destée Alain, Sablonnière Bernard

机构信息

Unité Fonctionnelle de Neurobiologie, Laboratoire de Biochimie et Biologie moléculaire, Hôpital R. Salengro, Centre Hospitalier Régional et Universitaire, Boulevard du Professeur Leclerc, 59037 Lille Cedex, France.

出版信息

Ann Neurol. 2002 Nov;52(5):666-70. doi: 10.1002/ana.10344.

DOI:10.1002/ana.10344

PMID:12402269

Abstract

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.

摘要

我们研究了一个患有新型常染色体显性遗传性脊髓小脑共济失调的法国家庭，该病症被排除在所有先前已确定的基因和基因座之外。患者表现出缓慢进展的步态和肢体共济失调，伴有运动不能、强直、震颤和反射减退等不同症状。部分病例还观察到轻度认知障碍。我们进行了全基因组搜索，发现了与7号染色体p21.3 - p15.1区域连锁的显著证据。对关键重组体的分析和单倍型重建将这个新的脊髓小脑共济失调基因座定位到了一个24厘摩的区间，两侧分别为D7S2464和D7S516。