No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy
Publication year
2014Source
Neurobiology of Aging, 35, 8, (2014), pp. 1956 e9-1956 e11ISSN
Publication type
Article / Letter to editor
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Organization
Neurology
Journal title
Neurobiology of Aging
Volume
vol. 35
Issue
iss. 8
Page start
p. 1956 e9
Page end
p. 1956 e11
Subject
Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical NeuroscienceAbstract
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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- Academic publications [238441]
- Faculty of Medical Sciences [90373]
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