The silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

被引：59

作者：

Patel, H

Hart, PE

Warner, TT

Houlston, RS

Patton, MA

Jeffery, S

Crosby, AH

机构：

[1] Univ London St Georges Hosp, Sch Med, London SW17 0RE, England

[2] Royal Free Hosp, Sch Med, Dept Clin Neurosci, London, England

[3] Inst Canc Res, Sect Canc Genet, Sutton, Surrey, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 01期

基金：

英国惠康基金;

关键词：

D O I：

10.1086/321267

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form of HSP, complicated by amyotrophy of the hand muscles. Having excluded the multiple known HSP loci, we undertook a genomewide screen for linkage of SS in one large multigenerational family, which revealed evidence for linkage of the SS locus, which we have designated "SPG17," to chromosome 11q12-q14. Haplotype construction and analysis of recombination events permitted the minimal interval defining SPG17 to be refined to similar to 13 cM, flanked by markers D11S1765 and D11S4136. SS in a second family was not linked to SPG17, demonstrating further genetic heterogeneity in HSP, even within this clinically distinct subtype.

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页码：209 / 215

页数：7

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