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Familial amyotrophic lateral sclerosis of the G37V‐ superoxide dismutase 1 mutation with a slow disease progression
Author(s) -
Tadokoro Koh,
Ohta Yasuyuki,
Takahashi Yoshiaki,
Yamashita Toru,
Sato Kota,
Takemoto Mami,
Hishikawa Nozomi,
Abe Koji
Publication year - 2017
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12123
Subject(s) - amyotrophic lateral sclerosis , medicine , superoxide dismutase , sod1 , dismutase , mutation , aunt , gene mutation , pathology , disease , genetics , gene , biology , oxidative stress , sociology , anthropology
Abstract The majority of amyotrophic lateral sclerosis patients have the sporadic form, but 5–10% of those have familial amyotrophic lateral sclerosis. A total of 15–20% of familial amyotrophic lateral sclerosis patients have genetic mutations in the superoxide dismutase 1 gene. In 2012, Kobayashi et al . reported the first case of a familial amyotrophic lateral sclerosis patient carrying a G37V superoxide dismutase 1 mutation, who showed rapid progression and died within 1.2 years of onset from respiratory failure. In contrast, here we report the second case of familial amyotrophic lateral sclerosis carrying the G37V superoxide dismutase 1 mutation, showing a very slow progression, and his father and aunt also had longer disease durations from 4 to 6 years. Further clinical and biological studies will clarify the detailed pathological role of the G37V superoxide dismutase 1 mutation for amyotrophic lateral sclerosis.