Novel VCP mutations expand the mutational spectrum of frontotemporal dementia

Neurobiology of Aging
Dario SaracinoIsabelle Le Ber

Abstract

Valosin-containing protein (VCP) mutations are rare causes of autosomal dominant frontotemporal dementias associated with Paget's disease of bone, inclusion body myopathy, and amyotrophic lateral sclerosis. We analyzed the VCP gene in a cohort of 199 patients with frontotemporal dementia and identified 7 heterozygous mutations in unrelated families, including 3 novel mutations segregating with dementia. This expands the VCP mutation spectrum and suggests that although VCP mutations are rare (3.5% in this study), the gene should be analyzed even in absence of the full syndromic complex. Reporting genetic variants with convincing arguments for pathogenicity is important considering the large amount of data generated by next-generation sequencing and the growing difficulties to interpret rare genetic variants identified in isolated cases.

Citations

Aug 1, 2020·Frontiers in Neuroscience·Ramya RanganathanJanine Kirby
Mar 3, 2020·Frontiers in Neuroscience·Yevgeniya A AbramzonRuth Chia
Jan 9, 2021·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Tomoyasu MatsubaraShigeo Murayama
Sep 6, 2020·Neurobiology of Disease·Suvi HäkkinenSuzee E Lee
Apr 17, 2021·Journal of Neuropathology and Experimental Neurology·Benjamin C CreekmoreEdward B Lee
Aug 8, 2021·International Journal of Molecular Sciences·Purbasha NandiPo-Lin Chiu

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