Spinocerebellar ataxia type 15

被引：24

作者：

Gardner, RJM

Knight, MA

Hara, K

Tsuji, S

Forrest, SM

Storey, E

机构：

[1] Royal Childrens Hosp, Genet Hlth Serv Victoria, Melbourne, Vic 3052, Australia

[2] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic 3052, Australia

[3] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

[4] Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan

[5] Univ Tokyo, Grad Sch Med, Div Neurosci, Dept Neurol, Tokyo, Japan

[6] Walter & Eliza Hall Inst Med Res, Australian Genome Res Facil, Melbourne, Vic 3050, Australia

[7] Alfred Hosp, Dept Med Neurosci, Melbourne, Vic, Australia

来源：

CEREBELLUM | 2005年 / 4卷 / 01期

关键词：

cerebellar ataxia; SCA15;

D O I：

10.1080/14734220410019029

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Spinocerebellar ataxia type 15 (SCA15) was first reported in 2001 on the basis of a single large Anglo-Celtic family from Australia, the locus mapping to chromosomal region 3p24.2-3pter. The characteristic clinical feature was of very slow progression, with two affected individuals remaining ambulant without aids after over 50 years of symptoms. Head and/or upper limb action tremor, and gaze-evoked horizontal nystagmus were seen in several persons. MRI brain scans showed predominant vermal atrophy, sparing the brainstem. In 2004, a Japanese pedigree was reported, which displayed very similar clinical features to the original SCA15 family, and which mapped to an overlapping candidate region. These two families might plausibly reflect a locus homogeneity, but for the present this remains an open question.

引用

页码：47 / 50

页数：4

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