TREM2 variant p.His157Tyr in Colombian patients with the behavioural variant of frontotemporal dementia

MATALLANA, DIANA; ANDREA LÓPEZ; SANTAMARIA GARCIA HERNANDO

Conferencia; XI International Conference of Frontotemporal Dementia; 2016

TREM2 variant p.His157Tyr in Colombian patients with the behavioural variant offrontotemporal dementiaThe triggering receptor expressed on myeloid cells 2 protein [TREM2 (OMIM605086)], is an immunoreceptor that plays an important role in the innate immunity ofthe central nervous system (CNS). Recently, it has gained great interest due to anassociation of homozygous variants with frontotemporal dementia (FTD)-like syndrome.Moreover, homozygous and heterozygous genetic variants have been linked with a higherrisk of developing Alzheimer's disease (AD).Methods: A descriptive observational study was performed on a cohort of 106 patientsdiagnosed with FTD in which 61 patients were classified by consensus to have thebehavioural variant of FTD (bvFTD). It was determined that 11 patients had a familyhistory of a related disorder, therefore, they were genetically examined through clinicalassessment, prediction of pathogenicity through bioinformatics algorithms, radiologicalstudies and genetic analysis with a UPenn targeted next-generation sequencing paneldesigned to identify genetic variations in 45 genes associated with severalneurodegenerative disorders (NDs).Results: Two patients with the same heterozygous variant of TREM2 (p.His157Tyr) wereidentified with similar clinical presentation characterized by apathy-related symptoms,impaired social behaviour, disinhibition with inappropriate sexual behaviour and impairedrisk assessment. These findings showed the importance of performing genotypephenotype correlations in patients with bvFTD and heterozygous mutations in TREM2gene for the better understanding of neurodegenerative processes.