Familial amyotrophic lateral sclerosis with a point mutation (G37R) of the superoxide dismutase 1 gene: a clinicopathological study

被引：13

作者：

Inoue, K

Fujimura, H

Ogawa, Y

Satoh, T

Shimada, K

Sakoda, S

机构：

[1] Osaka Univ, Grad Sch Med, Dept Neurol D4, Suita, Osaka 5650871, Japan

[2] Kasai Municipal Hosp, Dept Neurol, Kasai, Hyogo 6752393, Japan

来源：

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS | 2002年 / 3卷 / 04期

关键词：

familial amyotrophic lateral sclerosis; Cu/Zn superoxide dismutase; pathology; Lewy body-like hyaline inclusion; vacuolation;

D O I：

10.1080/146608202760839012

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A familial amyotrophic lateral sclerosis (FALS) patient with G37R mutation of superoxide dismutase 1 (SOD1) gene revealed an early onset and relatively slow progression. Neuropathological examination of this patient showed widespread neuronal degeneration extending to overall length of the spinal cord and the brainstem with extremely rare Lewy body-like inclusions (LBI), while there were no vacuoles in neurons, a characteristic feature in transgenic mice expressing G37R SOD1 mutation.

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页码：244 / 247

页数：4

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