Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients

Serena Lattante, Isabelle Le Ber, Agnès Camuzat, Jérémie Pariente, Alexis Brice, Edor Kabashi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

7 Citazioni (Scopus)

Abstract

The ubiquilin-2 gene (UBQLN-2) is the only amyotrophic lateral sclerosis (ALS)-related gene mapping on the X chromosome. Mutations in the PXX domain of UBQLN-2 have been first described in ALS patients with a mutational frequency of 2.6% in familial ALS cases with no evidence of male-to-male transmission. Different populations have been further tested with mutations largely distributed in the gene and lower frequency of positive cases. To determine the genetic contribution of UBQLN-2 in frontotemporal lobar degeneration (FTLD) and FTLD-ALS, we screened a cohort of 136 French patients, identifying a missense variant (c.1006A>G; p.T336A) in 1 FTLD patient whose biological relevance to disease is questionable. We conclude that UBQLN-2 mutations related to ALS/FTLD are extremely rare in French FTLD and FTLD-ALS patients and should not be analyzed systematically.
Lingua originaleEnglish
pagine (da-a)2078.e5-2078.e5-6
RivistaNeurobiology of Aging
Volume34
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • Amyotrophic Lateral Sclerosis
  • Frontotemporal Lobar Degeneration
  • ubiquilin

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