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.