A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay

被引：13

作者：

Okawa, S ^{[1
]}

Sugawara, M ^{[1
]}

Watanabe, S ^{[1
]}

Toyoshima, I ^{[1
]}

Imota, T ^{[1
]}

机构：

[1] Akita Univ, Sch Med, Dept Neurol, Akita 0108543, Japan

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2006年 / 77卷 / 02期

关键词：

D O I：

10.1136/jnnp.2005.077297

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：280 / 282

页数：3

共 5 条

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BARBEAU, A ;

BOUCHARD, R ;

BOUCHARD, RW .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1978, 5 (01) :61-69

[2] ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF [J].

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Bérubé, P ;

Mercier, J ;

Doré, C ;

Lepage, P ;

Ge, B ;

Bouchard, JP ;

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Morgan, K ;

Hudson, TJ ;

Richter, A .

NATURE GENETICS, 2000, 24 (02) :120-125

[3] ARSACS goes global [J].

Gomez, CM .

NEUROLOGY, 2004, 62 (01) :10-11

[4] Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan [J].

Hara, K ;

Onodera, O ;

Endo, M ;

Kondo, H ;

Shiota, H ;

Miki, K ;

Tanimoto, N ;

Kimura, T ;

Nishizawa, M .

MOVEMENT DISORDERS, 2005, 20 (03) :380-382

[5] A phenotype without spasticity in sacsin-related ataxia [J].

Shimazaki, H ;

Takiyama, Y ;

Sakoe, K ;

Ando, Y ;

Nakano, I .

NEUROLOGY, 2005, 64 (12) :2129-2131

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