加拿大东部常染色体显性遗传性感觉共济失调的一个奠基者单倍型。

A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada.

作者信息

Valdmanis P N, Brunet D, St-Onge J, Weston L, Rouleau G A, Dupré N

机构信息

Center for the Study of Brain Diseases, CHUM Research Center, Notre-Dame Hospital, Montreal, QC, Canada.

出版信息

Neurology. 2006 Dec 26;67(12):2239-42. doi: 10.1212/01.wnl.0000249314.96183.48.

DOI:10.1212/01.wnl.0000249314.96183.48

PMID:17190954

Abstract

We present phenotypic and genotypic data for an additional family with autosomal dominant sensory ataxia, a disease characterized by gait difficulties associated with diminished sensation in the limbs and areflexia. The same disease haplotype spanning the entire SNAX1 locus is observed in affected members of this second family, enabling the locus to be reduced to a 7.3-cM interval.

摘要

我们展示了另一个常染色体显性遗传性感觉共济失调家系的表型和基因型数据，该疾病的特征是步态困难，伴有肢体感觉减退和反射消失。在第二个家系的患病成员中观察到跨越整个SNAX1基因座的相同疾病单倍型，从而使该基因座缩小至7.3厘摩的区间。