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

Research output: Contribution to journalArticle

70 Citations (Scopus)

Abstract

Although about 5 to 10% of amyotrophic lateral sclerosis (ALS) cases are familial, the pathophysiology of ALS remains 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.

Original languageEnglish
Pages (from-to)676-679
Number of pages4
JournalAnnals of Neurology
Volume37
Issue number5
DOIs
Publication statusPublished - May 1995
Externally publishedYes

Fingerprint

Amyotrophic Lateral Sclerosis
Valine
Age of Onset
Mutation
Amino Acid Substitution
Point Mutation
Disease Progression
Exons
Fibroblasts
Skin
Genes
Superoxide Dismutase-1
Amyotrophic lateral sclerosis 1
Amyotrophic Lateral Sclerosis 10

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. / Aoki, Masashi; Abe, Koji; Houi, Kouji; Ogasawara, Masahito; Matsubara, Yoichi; Kobayashi, Takaaki; Mochio, Soichiro; Narisawa, Kuniaki; Itoyama, Yasuto.

In: Annals of Neurology, Vol. 37, No. 5, 05.1995, p. 676-679.

Research output: Contribution to journalArticle

Aoki, M, Abe, K, Houi, K, Ogasawara, M, Matsubara, Y, Kobayashi, T, Mochio, S, Narisawa, K & Itoyama, Y 1995, 'Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation', Annals of Neurology, vol. 37, no. 5, pp. 676-679. https://doi.org/10.1002/ana.410370518
Aoki, Masashi ; Abe, Koji ; Houi, Kouji ; Ogasawara, Masahito ; Matsubara, Yoichi ; Kobayashi, Takaaki ; Mochio, Soichiro ; Narisawa, Kuniaki ; Itoyama, Yasuto. / Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. In: Annals of Neurology. 1995 ; Vol. 37, No. 5. pp. 676-679.
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