SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q

被引：49

作者：

Hughes, CA

Byrne, PC ^{[1
]}

Webb, S

McMonagle, P

Patterson, V

Hutchinson, M

Parfrey, NA

机构：

[1] Univ Coll Dublin, Conway Inst Biomol & Biomed Res, Dept Pathol, Dublin 4, Ireland

[2] St Vincents Univ Hosp, Dept Neurol, Dublin, Ireland

[3] Royal Victoria Hosp, Dept Neurol, Belfast BT12 6BA, Antrim, North Ireland

来源：

NEUROLOGY | 2001年 / 56卷 / 09期

关键词：

D O I：

10.1212/WNL.56.9.1230

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors studied two families with autosomal recessive hereditary spastic paraplegia (HSP) complicated by the presence of additional symptoms of pigmented maculopathy, distal amyotrophy, dysarthria, mental retardation, and further intellectual deterioration. Evidence was obtained for linkage to a locus on chromosome 14q that is distinct from the SPG3 locus for autosomal dominant HSP (D14S77: lod score of 4.20 at zero recombination). Haplotype construction of nearby markers confirms the existence of this novel HSP locus (SPG15) and narrows it to a 19-cM interval flanked by D14S1038 and D14S61.

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页码：1230 / 1233

页数：4

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