Autonomic failure in ALS with a novel SOD1 gene mutation

被引：53

作者：

Shimizu, T

Kawata, A

Kato, S

Hayashi, M

Takamoto, K

Hayashi, H

Hirai, S

Yamaguchi, S

Komori, T

Oda, M

机构：

[1] Tokyo Metropolitan Neurol Hosp, Dept Neurol, Fuchu, Tokyo 1830042, Japan

[2] Tokyo Metropolitan Neurol Hosp, Dept Neuropathol, Fuchu, Tokyo 1830042, Japan

[3] Tokyo Metropolitan Inst Neurosci, Dept Neurol, Tokyo, Japan

[4] Tokyo Metropolitan Inst Neurosci, Dept Clin Neuropathol, Tokyo, Japan

来源：

NEUROLOGY | 2000年 / 54卷 / 07期

关键词：

ALS; SOD1; gene; autonomic failure; multisystem degeneration; totally locked-in state;

D O I：

10.1212/WNL.54.7.1534

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 patient with ALS and a novel SOD1 gene mutation who was in the totally locked-in state and developed autonomic failure followed by sudden cardiac arrest. A neuropathologic study showed widespread multisystem degeneration, including involvement of the autonomic nuclei in the medulla and spinal cord. SOD1 gene analysis detected a missense mutation of V118L in exon 4. These findings show notable phenotypic heterogeneity for SOD1-associated ALS.

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页码：1534 / 1537

页数：4

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