Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family

@article{Tsuchiya2000FamilialAL,
  title={Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family},
  author={Kuniaki Tsuchiya and Shuzo Shintani and Hiroki Nakabayashi and Koki Kikugawa and Ryoichi Nakano and Chie Haga and Imaharu Nakano and Kenji Ikeda and Shoji Tsuji},
  journal={Acta Neuropathologica},
  year={2000},
  volume={100},
  pages={603-607}
}
We report a Japanese family with autosomal dominant adult-onset amyotrophic lateral sclerosis (FALS) with onset in the bulbar musculature, clinically benign course, absence of the Cu/Zn superoxide dismutase-1 (SOD 1) gene mutation, and many Bunina bodies, in addition to involvement of the upper and lower motor neurons. The proband was a Japanese woman who was 66 years old at the time of death. Family history disclosed five patients with FALS over three generations. She developed dysarthria at… CONTINUE READING

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