Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation

Mari Segawa, M.D.1), Akihiko Hoshi, M.D., Ph.D.1), Hiroya Naruse, M.D.2), Masayuki Kuroda, Ph.D.3), Hideaki Bujo, M.D., Ph.D.4) and Yoshikazu Ugawa, M.D., Ph.D.1)

1)Department of Neurology, School of Medicine, Fukushima Medical University
2)Department of Neurology, Graduate School of Medicine, The University of Tokyo
3)Center of Advanced Medicine, Chiba University Hospital
4)Present address: Department of Laboratory Medicine, Toho University Sakura Medical Center

In this communication, we report a patient with familial amyotrophic lateral sclerosis (ALS) associated with a familial dyslipidemia. Genetic analysis revealed a novel heterozygous valosin-containing protein (VCP) mutation (c.466G>T (p.G156C)). The other gene analysis also disclosed a known homozygous LCAT mutation (c.101C>T (p.P10L)). VCP gene mutation shown should be responsible for familial ALS because of following reasons. The patient's father also was also affected by ALS. The VCP gene mutation (p.G156C) in the patient was located in the vicinity of a site frequently associated with pathogenic VCP variants. The same amino acid transformation as that of this patient has been reported to be involved in the pathogenesis of inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia. This is the first case report of rare association of ALS with VCP mutation and dyslipidemia with LCAT mutation.
Full Text of this Article in Japanese PDF (789K)

(CLINICA NEUROL, 55: 914|920, 2015)
key words: amyotrophic lateral sclerosis, point mutation, valosin-containing protein (VCP) gene, familial dyslipidemia, lecithin-cholesterol acyltransferase (LCAT) gene

(Received: 12-May-15)