The genetics of amyotrophic lateral sclerosis

被引：0

作者：

Kuzma-Kozakiewicz, Magdalena ^{[1
]}

Kwiecinski, Hubert ^{[1
]}

机构：

[1] Warszawski Uniwersytet Med, Katedra & Klin Neurol, PL-02097 Warsaw, Poland

来源：

NEUROLOGIA I NEUROCHIRURGIA POLSKA | 2009年 / 43卷 / 06期

关键词：

sporadic ALS; familial ALS; SOD1; gene; FUS/TLS gene; VAPB gene; STX; TDP-43; CU/ZN SUPEROXIDE-DISMUTASE; MOTOR-NEURON DISEASE; SPORADIC ALS; PERIPHERAL NEUROPATHY; SPASTIC PARALYSIS; COMMON FOUNDER; PROTEIN VAPB; SOD1; GENE; MUTATIONS; MUTANT;

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Amyotrophic lateral sclerosis (ALS) is a devastating disorder of still unknown aetiology and pathogenesis. It is characterized by a progressive and selective loss of motor neurons in the brain and spinal cord. The majority of ALS cases (90%) are sporadic and in approximately 10% the disorder is familial. In the light of recent studies, the familial forms might however be more frequent. The article describes mutations of genes linked to both sporadic and familial ALS and the role of the proteins they encode.

引用

页码：538 / 549

页数：12

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