Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan

被引：33

作者：

Hara, K

Onodera, O

Endo, M

Kondo, H

Shiota, H

Miki, K

Tanimoto, N

Kimura, T

Nishizawa, M

机构：

[1] Niigata Univ, Brain Res Inst, Ctr Bioresource Based Res, Genome Sci Branch, Niigata 9518585, Japan

[2] Niigata Univ, Inst Brain Res, Dept Neurol, Niigata, Japan

[3] Niigata Natl Hosp, Dept Neurol, Niigata, Japan

[4] Nagaoka Western Hosp, Dept Neurol, Nagaoka, Niigata, Japan

[5] Nagaoka Western Hosp, Dept Neurol, Nagaoka, Niigata, Japan

[6] Niigata Univ, Grad Sch Med & Dent Sci, Div Ophthalmol & Visual Sci, Niigata, Japan

来源：

MOVEMENT DISORDERS | 2005年 / 20卷 / 03期

关键词：

ARSACS; sacsin; prominent retinal myelinated fiber;

D O I：

10.1002/mds.20315

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) has been described in the Quebec region and in Tunisia. We report on two Japanese siblings with a new homozygous mutation (6543 del A) of the SACS gene. Compared with previously reported ARSACS patients, both of these patients had a unique phenotype characterized by dementia, ophthalmoplegia, and the absence of prominent retinal myelinated fibers. (c) 2004 Movement Disorder Society.

引用

页码：380 / 382

页数：3

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