Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, γ-globulin, and α-fetoprotein

被引：36

作者：

Watanabe, M

Sugai, Y

Concannon, P

Koenig, M

Schmitt, M

Sato, M

Shizuka, M

Mizushima, K

Ikeda, Y

Tomidokoro, Y

Okamoto, K

Shoji, M

机构：

[1] Gunma Univ, Sch Med, Dept Neurol, Gunma 3718511, Japan

[2] Gunma Univ, Sch Med, Dept Dermatol, Gunma 3718511, Japan

[3] Sawatari Spa Hosp, Gunma Med Assoc, Dept Neurol, Agatsuma, Japan

[4] Univ Washington, Sch Med, Virginia Mason Res Ctr, Seattle, WA USA

[5] Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France

来源：

ANNALS OF NEUROLOGY | 1998年 / 44卷 / 02期

关键词：

D O I：

10.1002/ana.410440220

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Here, we report a familiar spinocerebellar ataxia (FSCA), which has clinical features similar to Friedreich's ataxia, an ataxia with isolated vitamin E deficiency, and ataxia telangiectasia. However, the serum levels of creatine kinase, gamma-globulin, and alpha-fetoprotein were elevated, and biochemical and genetic analyses ruled out diagnosis of these three ataxias as well as other FSCAs. Thus, this family is thought to have a new type of FSCA.

引用

页码：265 / 269

页数：5

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