Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality

被引：17

作者：

Nobuhara, Y

Nakahara, K

Higuchi, I

Yoshida, T

Fushiki, S

Osame, M

Arimura, K

Nakagawa, M

机构：

[1] Kyoto Prefectural Univ Med, Dept Neurol & Gerontol, Res Inst Neurol dis & Geriatr, Kamigyo Ku, Kyoto 6020841, Japan

[2] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, Kagoshima 890, Japan

[3] Miyazaki Prefectural Hosp, Div Neurol, Miyazaki, Japan

[4] Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Pathol & Appl Neurobiol, Kyoto 602, Japan

来源：

NEUROLOGY | 2004年 / 63卷 / 07期

关键词：

D O I：

10.1212/01.WNL.0000140695.90497.E2

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors report a 29-year-old woman with marked atrophy of the cerebellum, medulla oblongata, and spinal cord, dementia, diffuse white matter abnormality on MRI, ragged-red fibers, and R88C mutation in the human glial fibrillary acidic protein (GFAP). Mitochondria DNA ( mtDNA) analysis showed a rare polymorphism at A8291G. This mtDNA polymorphism, which has been associated with limb-girdle type mitochondrial myopathy, may modify the clinical symptoms of this juvenile form of Alexander disease with GFAP mutation.

引用

页码：1302 / 1304

页数：3

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