Article
Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron disease.
Internal medicine (Tokyo, Japan) - 1 Jan 2010
Takazawa Takanori, Ikeda Ken, Hirayama Takehisa, Kawabe Kiyokazu, Nakamura Yoshikazu, Ito Hirono, Kano Osamu, Yoshii Yasuhiro, Tanaka Fumiaki, Sobue Gen, Iwasaki Yasuo
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a devastating disease characterized by upper and lower motor neuron damage. Mutations of Cu/Zn superoxide dismutase gene (SOD1) account for 20% of familial ALS (FALS). We report a unique clinicogenotype of a Japanese family with a novel SOD 1 mutation. A 37-year-old woman (the proband) noticed muscle weakness in the left lower limb. Her mother had developed progressive lower...
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