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.
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页码:58 / 61
页数:3
相关论文
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