TY - JOUR
T1 - No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy
AU - Seelen, Meinie
AU - Visser, Anne E.
AU - Overste, Daniel J.
AU - Kim, Hong J.
AU - Palud, A.
AU - Wong, Tsz H.
AU - van Swieten, John C.
AU - Scheltens, Philip
AU - Voermans, Nicol C.
AU - Baas, Frank
AU - de Jong, J. M. B. V.
AU - van der Kooi, Anneke J.
AU - de Visser, Marianne
AU - Veldink, Jan H.
AU - Taylor, J. Paul
AU - van Es, Michael A.
AU - van den Berg, Leonard H.
PY - 2014
Y1 - 2014
N2 - 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
AB - 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
U2 - https://doi.org/10.1016/j.neurobiolaging.2014.01.152
DO - https://doi.org/10.1016/j.neurobiolaging.2014.01.152
M3 - Article
C2 - 24612671
SN - 0197-4580
VL - 35
SP - 1956.e9-1956.e11
JO - Neurobiology of aging
JF - Neurobiology of aging
IS - 8
ER -