New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1

被引：23

作者：

Orlacchio, A

Kawarai, T

Gaudiello, F

St George-Hyslop, PH

Floris, R

Bernardi, G

机构：

[1] IRCCS, CERC, Neurogenet Lab, I-00143 Rome, Italy

[2] Univ Roma Tor Vergata, Dipartimento Neurosci, Rome, Italy

[3] Univ Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[4] Univ Roma Tor Vergata, Dipartimento Diagnost Immagini & Radiol Intervent, Rome, Italy

[5] Univ Hlth Network, Toronto Western Hosp, Div Neurol, Dept Med, Toronto, ON, Canada

来源：

ANNALS OF NEUROLOGY | 2005年 / 58卷 / 03期

关键词：

D O I：

10.1002/ana.20590

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We have updated the clinical description of a large Scottish pedigree, in which patients were affected by spastic paraplegia complicated by hearing impairment and persistent vomiting due to hiatal hernia inherited as an autosomal dominant trait. Using a genome-wide mapping approach, we identified a novel locus (SPG29) for this form of hereditary spastic paraplegia on chromosome 1p31.1-21.1 and narrowed it to 22.3cM between markers D1S2889 and D1S248. Sequencing of one candidate gene in the region (sorting nexin 7, SNX7 involved in several stages of intracellular trafficking and protein transport, showed no disease-causing mutations.

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页码：423 / 429

页数：7

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