Molecular evaluation of human Ubiquilin 2 gene PXX domain in familial frontotemporal dementia patients
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Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) phenotypes appear in the same pedigrees  and can occur in the same individuals  (FTDALS, OMIM 105550). In fact about 2–3 % of ALS patients develop dementia . Consequently, in some individuals, there appears to be a common genetic etiology for both diseases. Genetic variation identified in GRN, FUS, TDP-43, and more recently, in C9ORF72 and UBQLN2 genes has been associated to familial ALS (FALS, OMIN 104105), familial FTD (OMIM 600274) and/or FTDALS consistent with the notion that both disorders may share genetic components and, probably, functional pathogenic mechanisms [4, 5, 6, 7, 8].
UBQLN2 gene was recently identified by Deng et al.  as a novel dominant but not fully penetrant X-linked FTDALS gene. Specifically, five segregating mutations in four different proline residues within the PXX repeat domain of UBQLN2gene were identified in families afflicted with ALS/dementia. Importantly, the...
KeywordsAmyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis Patient Frontotemporal Dementia Progressive Supranuclear Palsy Familial Amyotrophic Lateral Sclerosis
We would like to thank patients who participated in this project. We are indebted to Trinitat Port-Carbó and her family who are supporting Fundació ACE research programs.
Conflicts of interest
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