No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy

M Seelen, AE Visser, DJ Overste, HJ Kim, A Palud, Tse Wong, J.C. van Swieten, P Scheltens, NC (Nicol) Voermans, F Baas, JMBV de Jong, AJ van der Kooi, M (Marjolein) Visser, JH Veldink, JP Taylor, MA van Es, LH van den Berg

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Abstract

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. The genetic evidence for ALS and other neurodegenerative diseases is still insufficient. We therefore sequenced the prion-like domain of these genes in 135 familial ALS, 1084 sporadic ALS, 68 familial FTD, 74 sporadic FTD, and 31 sporadic IBM patients in a Dutch population. We did not identify any mutations in these genes in our cohorts. Mutations in hnRNPA1 and hnRNPA2B1 prove to be a rare cause of ALS, FTD, and IBM in the Netherlands. (C) 2014 Elsevier Inc. All rights reserved.
Original languageUndefined/Unknown
JournalNeurobiology of Aging
Volume35
Issue number8
DOIs
Publication statusPublished - 2014

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