Genetic analysis ofVCPvariants in a Turkish dementia cohort

AbstractValosin-containing protein(VCP) mutations are causative for multisystem proteinopathy, a disease characterized by variable phenotypes including inclusion body myopathy, Paget’s disease of bone, and frontotemporal dementia. More recent reports identifiedVCPvariants as the cause of other neurodegenerative diseases, such as Parkinson’s disease and vacuolar tauopathy. We screened a Turkish dementia cohort forVCPvariants in order to assess their role as the cause of disease in this population. One hundred and forty six Turkish dementia patients were examined clinically and were analyzed forVCPcoding variants using whole-exome sequencing. Familial samples were collected and analyzed in order to test for segregation of candidate variants. We identified a heterozygous missense VCP p.Ile216Met variant segregating with disease in a family where the proband was diagnosed with prodromal dementia with Lewy bodies. Our report potentially extends the spectrum of phenotypes attributed toVCPmutations to include prodromal dementia with Lewy bodies.