@article{f2e3d5f53c3742d29893947546ae4552,
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. Funding Information: Dr. Takashima received funding through grants from the Nervous and Mental Disorders and Research Committee for Applying Health and Technology of the Ministry of Health, Welfare and Labour, Japan. This research is also supported by the research program for conquering intractable disease (15ek0109010h0002) from the Japan Agency for Medical Research and Development, AMED.",
year = "2018",
doi = "10.2169/internalmedicine.8765-16",
language = "English",
volume = "57",
pages = "613--615",
journal = "Internal Medicine",
issn = "0918-2918",
publisher = "Japanese Society of Internal Medicine",
number = "4",
}