Summary
SummaryShort summary of a recent publication, written by scientific experts.
Published: 08 Feb 2023
Identifying differences in presentations of valosin-containing protein multisystem proteinopathy in diverse populations
Frontotemporal dementia is one of the clinical features associated with valosin-containing protein (VCP) multisystem proteinopathy (MSP1), a progressive disease associated with missense mutations in the VCP gene.
In a population of Hispanic adults with the c.476G > A, p.R159H variant of the VCP gene, there was a high prevalence of frontotemporal dementia (72%), especially in females.
The authors concluded that there are notable differences in the clinical presentations of VCP MSP1 in populations with varying cultural and ethnic background which should be considered to avoid a diagnostic delay.