Les marqueurs biologiques des démences fronto-temporales

Abstract

AbstractFrontotemporal lobar degeneration (FTLD) represents the second degenerative etiology of early-onset dementia after Alzheimer’s Disease. FTLD encompasses different phenotypes, notably the behavioural variant of frontotemporal dementia (bvFTD). FTLD can be frequently hereditary, molecular diagnosis should be performed facing family history of neurologic or psychiatric diseases, and even without any family history. Many genes are considered as pathogenic of FTLD and permit to classify cases as definite. C9ORF72, GRN and MAPT represent the main causative genes of FTLD. The determination of etiological markers of FTD, based on the nature of cerebral aggregates – TAU and TDP43 – was able to highlight variations between FTD patients and other cohorts. However, the great variability observed for these markers complicates a potential use in clinical practice for an individual diagnosis. The development of indirect markers is currently increasing, especially neurofilaments, and testifies that extensive research has been performed to better understand physiopathological processes underlying FTLD.