, Volume 259, Issue 11, pp 2488-2490
Date: 24 Jun 2012

Molecular evaluation of human Ubiquilin 2 gene PXX domain in familial frontotemporal dementia patients

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Dear Sirs,

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) phenotypes appear in the same pedigrees [1] and can occur in the same individuals [2] (FTDALS, OMIM 105550). In fact about 2–3 % of ALS patients develop dementia [3]. 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 [48].

UBQLN2 gene was recently identified by Deng et al. [7] 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 UBQLN2 gene were identified in families afflicted with ALS/dementia. Importantly, the authors also