Article
Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses.
Journal of the neurological sciences - 15 Mar 2004
Sato Takako, Yamamoto Yoichi, Nakanishi Toyofumi, Fukada Kei, Sugai Fuminobu, Zhou Zhiwei, Okuno Tatsusada, Nagano Seiichi, Hirata Shuji, Shimizu Akira, Sakoda Saburo
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. The majority of patients are sporadic cases, while 5-10% of the patients have a family history of ALS (fALS). Mutations in the gene that encodes cytoplasmic Cu/Zn superoxide dismutase (SOD1) have been identified in about 25% of fALS cases. Although the precise pathogenesis of ALS is still unknown, experimental...
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