The first report of a japanese case of seipinopathy with a BSCL2 N88S mutation

Kazushi Minami, Shinichi Takahashi, Yoshihiro Nihei, Koichi Oki, Shigeaki Suzuki, Daisuke Ito, Hiroshi Takashima, Norihiro Suzuki

研究成果: Article査読

2 被引用数 (Scopus)

抄録

Seipinopathy is an autosomal dominant neurodegenerative disease caused by mutations of the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene. We report the first Japanese case of seipinopathy with a heterozygous mutation of p.N88S in the BSCL2 gene. The patient showed bilateral hyperreflexia of the biceps, triceps, brachioradialis, and knee, as well as the pes cavus and distal dominant weakness and atrophy of both arms and legs, suggesting the involvement of both upper and lower motor neurons. Mutations of the BSCL2 gene have been known to cause motor neuron degeneration through endoplasmic reticulum stress. Seipinopathy should be considered in patients with symptoms mimicking amyotrophic lateral sclerosis.

本文言語English
ページ(範囲)613-615
ページ数3
ジャーナルInternal Medicine
57
4
DOI
出版ステータスPublished - 2018

ASJC Scopus subject areas

  • Internal Medicine

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