Article
Multiple system involvement in a Japanese patient with a V31A mutation in the SOD1 gene.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jun 2014
Sakamoto Hikaru, Akamatsu Maiko, Hirano Makito, Saigoh Kazumasa, Ueno Shuichi, Isono Chiharu, Kusunoki Susumu, Nakamura Yusaku
Abstract excerpt
The superoxide dismutase-1 (SOD1) gene is the first gene for familial amyotrophic lateral sclerosis (ALS) with autosomal dominant inheritance. We describe a Japanese patient who had slowly progressive motor neuron disease with autonomic and sensory disturbances, urine incontinence and sensory neuropathy. This patient was found to have V31A mutation in the SOD1 gene. Although slow progression has been previously...
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