Prominent sensory involvement in a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation
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- 作者：Ayumi Nishiyama ; MDa ; Hitoshi Warita ; MD PhDa ; Toshiaki Takahashi ; MD PhDb ; Naoki Suzuki ; MD PhDa ; Shuhei Nishiyama ; MD PhDa ; Ohito Tano ; MDa ; Tetsuya Akiyama ; MDa ; Yasuaki Watanabe ; MDa ; Kenta Takahashi ; MDa ; Hiroshi Kuroda ; MD PhDa ; Masaaki Kato ; MD PhDa ; Maki Tateyama ; MD PhDa ; Tetsuya Niihori ; MD PhDc ; Yoko Aoki ; MD PhDc (Prof.) ; Masashi Aoki ; MD PhDa ; aokim@med.tohoku.ac.jp" class="auth_mail" title="E-mail the corresponding author (Prof.)
- 关键词：Familial ALS ; SOD1 ; Sensory involvement ; Peripheral neuropathy ; Neurodegeneration
- 刊名：Clinical Neurology and Neurosurgery
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：150
- 期：Complete
- 页码：194-196
- 全文大小：406 K
文摘
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We present a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation with novel clinical manifestations.
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The proband showed slowly progressive, pure sensory axonopathy confirmed by electrophysiological and pathological examinations.
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The ALS-linked L8V SOD1 mutation may cause multiple system degeneration in addition to the systemic loss of motor neurons.