Article
VCP mutations in familial and sporadic amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Apr 2012
Koppers Max, van Blitterswijk Marka M, Vlam Lotte, Rowicka Paulina A, van Vught Paul W J, Groen Ewout J N, Spliet Wim G M, Engelen-Lee JooYeon, Schelhaas Helenius J, de Visser Marianne, van der Kooi Anneke J, van der Pol W-Ludo, Pasterkamp R Jeroen, Veldink Jan H, van den Berg Leonard H
Abstract excerpt
Mutations in the valosin-containing protein (VCP) gene were recently reported to be the cause of 1%-2% of familial amyotrophic lateral sclerosis (ALS) cases. VCP mutations are known to cause inclusion body myopathy (IBM) with Paget's disease (PDB) and frontotemporal dementia (FTD). The presence of VCP mutations in patients with sporadic ALS, sporadic ALS-FTD, and progressive muscular atrophy (PMA), a known...
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