Meinie Seelen, Anne E Visser, Daniel J Overste, Hong J Kim, A Palud, Tsz H Wong, John C van Swieten, Philip Scheltens, Nicol C Voermans, Frank Baas, J M B V de Jong, Anneke J van der Kooi, Marianne de Visser, Jan H Veldink, J Paul Taylor, Michael A Van Es, Leonard H van den Berg
Inclusion body myopathy (IBM) associated with Paget disease of the bone, frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), sometimes called IBMPFD/ALS or multi system proteinopathy, is a rare, autosomal dominant disorder characterized by progressive degeneration of muscle, brain, motor neurons, and bone with prominent TDP-43 pathology. Recently, 2 novel genes for multi system proteinopathy were discovered; heterogenous nuclear ribonucleoprotein (hnRNP) A1 and A2B1. Subsequently, a mutation in hnRNPA1 was also identified in a pedigree with autosomal dominant familial ALS...
August 2014: Neurobiology of Aging