Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.

ABSTRACT:

Importance

Presymptomatic carriers of chromosome 9 open reading frame 72 (C9orf72) mutation, the most frequent genetic cause of frontotemporal lobar degeneration and amyotrophic lateral sclerosis, represent the optimal target population for the development of disease-modifying drugs. Preclinical biomarkers are needed to monitor the effect of therapeutic interventions in this population.

Objectives

To assess the occurrence of cognitive, structural, and microstructural changes in presymptomatic C9orf72 carriers.

Design, setting, and participants

The PREV-DEMALS study is a prospective, multicenter, observational study of first-degree relatives of individuals carrying the C9orf72 mutation. Eighty-four participants entered the study between October 2015 and April 2017; 80

SUBMITTER: Bertrand A 

PROVIDER: S-EPMC5838615 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature