[A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation].
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.
Department of Neurology, School of Medicine, Fukushima Medical University.
Mari
M
Segawa
Akihiko
A
Hoshi
Hiroya
H
Naruse
Masayuki
M
Kuroda
Hideaki
H
Bujo
Yoshikazu
Y
Ugawa
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics; D018979:Myositis, Inclusion Body / Q000235:genetics; D010001:Osteitis Deformans / Q000235:genetics; D010375:Pedigree; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics; D017354:Point Mutation; D000074405:Valosin Containing Protein
D018797:Cell Cycle Proteins; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein