Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: A clinical and neuropathological study

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• 作者：Megumi Suzuki ; Togo Irie ; Takeshi Watanabe ; Hirotsugu Mikami ; Toshihiro Yamazaki ; Kiyomitsu Oyanagi ; Seiitsu Ono
• 关键词：FALS with Gly93Ser mutation ; Clinical features ; Posterior column ; Spinocerebellar tract ; Superior cerebellar peduncle ; Dentate nucleus ; Red nucleus
• 刊名：Journal of the Neurological Sciences
• 出版年：2008
• 期刊代码：178_0022510x
• 类别：med
• 出版时间：15 May 2008
• 卷：268
• 期：1-2
• 页码：140-144
• 文件大小：1826 K

摘要

We describe a 39-year-old Japanese woman with familial amyotrophic lateral sclerosis (FALS) in whom we identified a missense mutation (Gly93→Ser) in exon 4 of the Cu/Zn superoxidase dismutase-1 (SOD1) gene in which no pathological data have been available. The disease duration was 16 years, and she died of respiratory failure. The initial sign was weakness of the lower limbs. She had no clear upper motor neuron involvement. Respiratory muscle weakness had developed 1 year before her death.