TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia

Serena Lattante, Isabelle Le Ber, Agnès Camuzat, Sarah Dayan, Chloé Godard, Inge Van Bortel, Anne De Septenville, Sorana Ciura, Alexis Brice, Edor Kabashi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

29 Citazioni (Scopus)


Homozygous mutations in TREM2 have been recently identified by exome sequencing in families presenting with frontotemporal dementia (FTD)-like phenotype. No study has evaluated the exact frequency of TREM2 mutations in cohorts of FTD patients so far. We sequenced TREM2 in 175 patients with pure FTD, mostly French, to test whether mutations could be implicated in the pathogenesis of the disease. No disease-causing mutation was identified in 175 individuals from the French cohort of FTD patients. We did not identify the polymorphism p.R47H (rs75932628), strongly associated with an increased risk of developing Alzheimer's disease. We conclude that TREM2 mutations are extremely rare in patients with pure FTD, although further investigation in larger populations is needed.
Lingua originaleEnglish
pagine (da-a)2443.e1-2443.e1-2
RivistaNeurobiology of Aging
Stato di pubblicazionePubblicato - 2013


  • Exome
  • Frontotemporal Dementia
  • trem2


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