title: No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy.
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.
authors.affiliation: Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Meinie
authors.initials: M
authors.lastname: Seelen
authors.affiliation: Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Anne E
authors.initials: AE
authors.lastname: Visser
authors.affiliation: Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Overste
authors.affiliation: Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Hong J
authors.initials: HJ
authors.lastname: Kim
authors.affiliation: Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: A
authors.initials: A
authors.lastname: Palud
authors.affiliation: Department of Neurology, Erasmus Medical Center, Rotterdam, the Netherlands.
authors.forename: Tsz H
authors.initials: TH
authors.lastname: Wong
authors.affiliation: Department of Neurology, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Neurology, VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: John C
authors.initials: JC
authors.lastname: van Swieten
authors.affiliation: Department of Neurology, VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: Philip
authors.initials: P
authors.lastname: Scheltens
authors.affiliation: Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center for Neurosciences, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
authors.forename: Nicol C
authors.initials: NC
authors.lastname: Voermans
authors.affiliation: Department of Genome Analysis, Amsterdam Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: Frank
authors.initials: F
authors.lastname: Baas
authors.affiliation: Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: J M B V
authors.initials: JM
authors.lastname: de Jong
authors.affiliation: Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: Anneke J
authors.initials: AJ
authors.lastname: van der Kooi
authors.affiliation: Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: Marianne
authors.initials: M
authors.lastname: de Visser
authors.affiliation: Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Jan H
authors.initials: JH
authors.lastname: Veldink
authors.affiliation: Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: J Paul
authors.initials: JP
authors.lastname: Taylor
authors.affiliation: Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: m.a.vanes@umcutrecht.nl.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Van Es
authors.affiliation: Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Leonard H
authors.initials: LH
authors.lastname: van den Berg
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D056726:Genetic Association Studies; D000076245:Heterogeneous Nuclear Ribonucleoprotein A1; D034481:Heterogeneous-Nuclear Ribonucleoprotein Group A-B / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018979:Myositis, Inclusion Body / Q000235:genetics*; D009426:Netherlands; D010001:Osteitis Deformans / Q000235:genetics*
chemical_list: C103749:HNRNPAB protein, human; D000076245:Heterogeneous Nuclear Ribonucleoprotein A1; D034481:Heterogeneous-Nuclear Ribonucleoprotein Group A-B; C000619656:hnRNPA1 protein, human
keywords: Amyotrophic lateral sclerosis (ALS); Frontotemporal dementia (FTD); Inclusion body myopathy (IBM); hnRNPA1; hnRNPA2B1