No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis,frontotemporal dementia,and inclusion body myopathy |
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| Authors: | 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 JMBV 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 |
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| Institution: | 1. Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands;2. Department of Developmental Neurobiology, St Jude Children''s Research Hospital, Memphis, TN, USA;3. Department of Neurology, Erasmus Medical Center, Rotterdam, the Netherlands;4. Department of Neurology, VU University Medical Center, Amsterdam, the Netherlands;5. Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center for Neurosciences, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands;6. Department of Genome Analysis, Amsterdam Medical Center, University of Amsterdam, Amsterdam, the Netherlands;g Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, the Netherlands |
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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. |
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| Keywords: | Amyotrophic lateral sclerosis (ALS) Frontotemporal dementia (FTD) Inclusion body myopathy (IBM) hnRNPA1 hnRNPA2B1 |
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