Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration

Chiara Fenoglio, Daniela Galimberti, Laura Piccio, Diego Scalabrini, Paola Panina, Cecilia Buonsanti, Eliana Venturelli, Carlo Lovati, Gianluigi Forloni, Claudio Mariani, Nereo Bresolin, Elio Scarpini

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Triggering Receptor Expressed on Myeloid cells (TREM)2 deficiency originates a genetic syndrome characterized by bone cysts and presenile dementia, named Nasu-Hakola disease (NHD). Early onset dementia and marked involvement of frontal regions are features characterizing both NHD and other kinds of neurodegenerative disorders, such as Frontotemporal Lobar Degeneration (FTLD), and, in some cases, Alzheimer's disease (AD). Three Single Nucleotide Polymorphisms (SNPs) in TREM2 coding region were screened by allelic discrimination in a population of probable AD patients as well as FTLD patients as compared with age-matched controls. In addition, mutation scanning of the coding region of TREM2 gene was carried out in 7 patients with early onset AD (EOAD), 16 FTLD, and 20 controls. None of the SNPs analyzed was present, either in patients or controls. Moreover, mutation scanning of the five exons of TREM2 failed to detect the presence of novel polymorphisms. These data demonstrate that TREM2 coding region is highly conserved, implying a crucial role of this receptor. Further studies, including a functional analysis, are certainly required to clarify the role of TREM2 in neurodegenerative processes.

Original languageEnglish
Pages (from-to)133-137
Number of pages5
JournalNeuroscience Letters
Issue number2
StatePublished - Jan 10 2007


  • Alzheimer's disease (AD)
  • Early onset dementia
  • Frontotemporal Lobar Degeneration (FTLD)
  • Polymorphisms
  • Triggering Receptor Expressed on Myeloid cells (TREM)2


Dive into the research topics of 'Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration'. Together they form a unique fingerprint.

Cite this