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Neurobiol Aging. 2014 Aug;35(8):1956.e9-1956.e11. doi: 10.1016/j.neurobiolaging.2014.01.152. Epub 2014 Feb 6.

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

Author information

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, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Neurology, VU University Medical Center, Amsterdam, the Netherlands.
5
Department of Neurology, VU University Medical Center, Amsterdam, the Netherlands.
6
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center for Neurosciences, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
7
Department of Genome Analysis, Amsterdam Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
8
Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
9
Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: m.a.vanes@umcutrecht.nl.

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.

KEYWORDS:

Amyotrophic lateral sclerosis (ALS); Frontotemporal dementia (FTD); Inclusion body myopathy (IBM); hnRNPA1; hnRNPA2B1

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