VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease

The valosin-containing protein (VCP) is involved in a plethora of cellular processes including membrane dynamics, DNA damage response, and protein quality control.1 Its essential role in humans is highlighted by diverse clinical phenotypes linked to VCP mutations: (1) inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD); (2) amyotrophic lateral sclerosis; (3) Charcot-Marie-Tooth disease type 2; and (4) hereditary spastic paraplegia (reviewed by Evangelista et al.2). Moreover, mutant VCP has been implicated in the pathogenesis of Parkinson disease (PD).3

Source: Neurology - August 14, 2017 Category: Neurology Authors: Regensburger, M., Türk, M., Pagenstecher, A., Schröder, R., Winkler, J. Tags: All Medical/Systemic disease, Parkinson's disease/Parkinsonism, Peripheral neuropathy, Muscle disease CLINICAL/SCIENTIFIC NOTES Source Type: research