Adolescent-Onset Multisystem Proteinopathy due to a Novel VCP Variant

Valosin-containing protein (VCP) is a protein of the AAA+ (ATPase Associated with diverse cellular Activities) family and is involved in various cellular mechanisms, including ubiquitin dependent cellular processes via ubiquitin-proteosome system, autophagy regulation and protein clearance [1 –3]. Pathogenic variants in VCP cause multisystem proteinopathy (MSP) manifesting with inclusion body myopathy (IBM), amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and Paget disease of bone (PDB) [4,5].

Source: Neuromuscular Disorders - December 8, 2023 Category: Neurology Authors: Pannathat Soontrapa, Nathan A. Seven, Teerin Liewluck, Gaofeng Cui, Georges Mers, Margherita Milone Tags: Case report Source Type: research