A new autosomal dominant pure cerebellar ataxia

被引：51

作者：

Storey, E

Gardner, RJM

Knight, MA

Kennerson, ML

Tuck, RR

Forrest, SM

Nicholson, GA

机构：

[1] Concord Hosp, Anzac Res Inst, Neurobiol Lab, Sydney, NSW, Australia

[2] Concord Hosp, Anzac Res Inst, Dept Mol Med, Sydney, NSW, Australia

[3] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia

[4] Univ Melbourne, Royal Childrens Hosp, Murdochs Childrens Res Inst, Melbourne, Vic, Australia

[5] Monash Univ, Alfred Hosp, Dept Neurosci, Melbourne, Vic 3181, Australia

[6] Alfred Hosp, Genet Hlth Serv Victoria, Melbourne, Vic, Australia

来源：

NEUROLOGY | 2001年 / 57卷 / 10期

关键词：

D O I：

10.1212/WNL.57.10.1913

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A kindred is described with a dominantly inherited "pure" cerebellar ataxia in which the currently known spinocerebellar ataxias have been excluded. In the eight subjects studied, a notable clinical feature is slow progression, with the three least affected having only a mild degree of gait ataxia after three or more decades of disease duration. Pending an actual chromosomal locus discovery, the name spinocerebellar ataxia (SCA)15 is expectantly applied.

引用

页码：1913 / 1915

页数：3

共 9 条

[1]

HARDING AE, 1993, ADV NEUROL, V61, P1

[2] An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) [J].