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.
View full abstract