Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy.

ABSTRACT:

Background and objectives

Missense variants of the valosin-containing protein (VCP) gene cause a progressive, autosomal dominant disease termed VCP multisystem proteinopathy (MSP1). The disease is a constellation of clinical features including inclusion body myopathy (IBM), Paget disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), typically reported at a frequency of 90%, 42%, 30%, and 9%, respectively. The Hispanic population is currently underrepresented in previous reports of VCP myopathy. We expand our genotype-phenotype studies in 5 Hispanic families with the c.476G>A, p.R159H VCP variant.

Methods

We report detailed clinical findings of 11 patients in 5 Hispanic families with the c.476G > A, p.R159H VCP var

SUBMITTER: Shmara A 

PROVIDER: S-EPMC9833818 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature