Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus

被引：33

作者：

Hara, K

Fukushima, T

Suzuki, T

Shimohata, T

Oyake, M

Ishiguro, H

Hirota, K

Miyashita, A

Kuwano, R

Kurisaki, H

Yomono, H

Goto, J

Kanazawa, I

Tsuji, S

机构：

[1] Univ Tokyo, Grad Sch Med, Dept Neurol, Div Neurosci,Bunkyo Ku, Tokyo 1138655, Japan

[2] Niigata Univ, Brain Res Inst, Ctr Bioresource Based Res, Genome Sci Branch, Niigata 95021, Japan

[3] Akita Red Cross Hosp, Dept Neurol, Akita, Japan

[4] Natl Tokyo Hosp, Dept Neurol, Tokyo, Japan

[5] Natl Ctr Neurol & Psychiat, Tokyo, Japan

来源：

NEUROLOGY | 2004年 / 62卷 / 04期

关键词：

D O I：

10.1212/01.WNL.0000110190.08412.25

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors identified two Japanese spinocerebellar ataxia (SCA) families characterized by postural and action tremor and a very slow progression rate. A genome-wide linkage analysis revealed linkage to chromosome 3p26.1-25.3 with the highest multipoint lod score at D3S3728 (Zmax=3.31 at theta=0.00). The candidate region was 14.7. cM flanked by D3S1620 and D3S3691, which was partly overlapping with the locus of SCA15 characterized by pure cerebellar ataxia. Despite the difference in phenotypes, there remains a possibility that the causative gene for these Japanese SCA is allelic to SCA15.

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页码：648 / 651

页数：4

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