Rev Neurol (Paris) 2022 May 5;178(5):426-436. Epub 2022 May 5.
Sorbonne Université, Paris Brain Institute-Institut du Cerveau-ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Reference Centre for Rare or Early Dementias, IM2A, Département de Neurologie, AP-HP-Hôpital Pitié-Salpêtrière, Paris, France.
Repeat expansions in C9orf72 gene are the main genetic cause of frontotemporal dementia, amyotrophic lateral sclerosis and related phenotypes. With the advent of disease-modifying treatments, the presymptomatic disease phase is getting increasing interest as an ideal time window in which innovant therapeutic approaches could be administered. Recommendations issued from international study groups distinguish between a preclinical disease stage, during which lesions accumulate in absence of any symptoms or signs, and a prodromal stage, marked by the appearance the first subtle cognitive, behavioral, psychiatric and motor signs, before the full-blown disease. Read More