Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel cu/zn superoxide dismutase mutation

Masashi Aoki, Koji Abe, Kouji Houi, Masahito Ogasawara, Yoichi Matsubara, Takaaki Kobayashi, Soichiro Mochio, Kuniaki Narisawa, Yasuto Itoyama

研究成果: Article

70 引用 (Scopus)

抜粋

Although about 5 to 10% of amyotrophic lateral sclerosis (ALS) cases are familial, the pathophysiology of ALS remians unknown. A new point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD) gene, resulting in an amino acid substitution of leucine84 by valine (L84V), in a Japanese patient with familial ALS (FALS) was identified. This L84V substitution was not observed in 57 normal Japanese control subjects. The enzymatic activities of Cu/Zn SOD of skin fibroblasts were significantly reduced to 75% of the control level in the affected patient. The progression of the disease with this mutation is very rapid, but the age at onset varies with sex or generation within a family.

元の言語English
ページ(範囲)676-679
ページ数4
ジャーナルAnnals of Neurology
37
発行部数5
DOI
出版物ステータスPublished - 1995 5

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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