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

doi:10.2169/internalmedicine.8765-16

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

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	613-615
Number of pages	3
Journal	Internal Medicine
Volume	57
Issue number	4
DOIs	https://doi.org/10.2169/internalmedicine.8765-16
Publication status	Published - 2018

Keywords

BSCL2
Japanese patient
Pyramidal signs
Seipinopathy
Upper motor neuron involvement

ASJC Scopus subject areas

Internal Medicine

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10.2169/internalmedicine.8765-16

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title = "The first report of a japanese case of seipinopathy with a BSCL2 N88S mutation",

abstract = "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.",

keywords = "BSCL2, Japanese patient, Pyramidal signs, Seipinopathy, Upper motor neuron involvement",

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

note = "Funding Information: This research is supported by funding from the following sources. Publisher Copyright: {\textcopyright} 2018 The Japanese Society of Internal Medicine.",

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doi = "10.2169/internalmedicine.8765-16",

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AU - Minami, Kazushi

AU - Takahashi, Shinichi

AU - Nihei, Yoshihiro

AU - Oki, Koichi

AU - Suzuki, Shigeaki

AU - Ito, Daisuke

AU - Takashima, Hiroshi

AU - Suzuki, Norihiro

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

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KW - Pyramidal signs

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KW - Upper motor neuron involvement

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

Abstract

Keywords

ASJC Scopus subject areas

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