Spinocerebellar ataxia with sensory neuropathy (SCA25)

被引：0

作者：

Giovanni Stevanin

Emmanuel Broussolle

Nathalie Streichenberger

Nicolas Kopp

Alexis Brice

Alexandra Durr

机构：

[1] INSERM U679 (former U289),Department of Genetics Cytogenetics and Embryology

[2] Federative Institute for Neuroscience Research (IFR70),Department of Neurology

[3] Salpetriere hospital,Department of Neuropathology

[4] AP-HP,Federation of Neurology

[5] Salpetriere hospital,undefined

[6] Hôpital Neurochirurgical Pierre Wertheimer,undefined

[7] Hôpital Neurochirurgical Pierre Wertheimer,undefined

[8] AP-HP,undefined

[9] Salpetriere hospital,undefined

[10] Pitie-Salpetriere Medical School,undefined

[11] Pierre and Marie Curie University,undefined

[12] INSERM U679 (former U289),undefined

[13] Hôpital de la Salpêtrière,undefined

[14] 47,undefined

[15] Boulevard de l’Hôpital,undefined

来源：

The Cerebellum | 2005年 / 4卷

关键词：

Spinocerebellar ataxias; spinocerebellar degenerations; neuropathy; linkage (genetics); chromosome mapping;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Spinocerebellar ataxia 25 (SCA25) is a rare form of autosomal dominant cerebellar ataxia associated with a severe sensory neuropathy. Clinical variability ranges from incomplete penetrance at age 61 to a Friedreich ataxia-like syndrome. The responsible locus was mapped to chromosome 2p in a large region of 14 Mbases in a single French kindred.

引用

页码：58 / 61

页数：3

共 46 条

[31]

Brice A(undefined)undefined undefined undefined undefined-undefined

[32]

Stevanin G(undefined)undefined undefined undefined undefined-undefined

[33]

Hahn V(undefined)undefined undefined undefined undefined-undefined

[34]

Lohmann E(undefined)undefined undefined undefined undefined-undefined

[35]

van Swieten JC(undefined)undefined undefined undefined undefined-undefined

[36]

Brusse E(undefined)undefined undefined undefined undefined-undefined

[37]

de Graaf BM(undefined)undefined undefined undefined undefined-undefined

[38]

Stevanin G(undefined)undefined undefined undefined undefined-undefined

[39]

Bouslam N(undefined)undefined undefined undefined undefined-undefined

[40]

Thobois S(undefined)undefined undefined undefined undefined-undefined

← 1 2 3 4 5 →