Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK
Author(s): Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H & Evangelista T
Published: June 23, 2015
Journal: Journal of Neurology, Neurosurgery & Psychiatry
Hereditary inclusion body myopathy (IBM) with Paget’s disease of the bone (PDB) and frontotemporal dementia (FTD) (IBMPFD) is a rare autosomal dominant disorder due to mutations in the valosin-containing protein gene (VCP). Pathogenic VCP variants have also been associated with amyotrophic lateral sclerosis and other phenotypes including dilated cardiomyopathy and Parkinson’s disease. We describe phenotypic and genetic findings of 42 individuals from 21 families with VCP mutations. As our service is the reference laboratory for the UK, we calculated the UK’s point prevalence based on the 2011 Census as the number of cases per population.