A novel mutation in the valosin-containing-protein gene found in a Spanish family
Valosin-containing protein (VCP) is a ubiquitous protein, being broadly expressed in several human body systems [1]. More than 45 missense mutations in the VCP gene have been associated with several disease conditions, collectively known as ‘multisystem proteinopathies’: these include early-onset Paget disease of the bone (PDB), myopathy with rimmed vacuoles or inclusion body myopathy (IBM), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS) [2, 3].. Myopathy is the most common clinical feature of these conditio ns, mainly affecting proximal muscles.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Giuseppe Lucente, M íriam Almendrote, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Pilar Camaño, Alfonsina Ballester-Lopez, Alejandro Lucia, Cristina Carrato, Gisela Nogales-Gadea, Jaume Coll-Cantí Tags: Letter to the Editor Source Type: research
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