Article
Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.
JAMA neurology - 1 Feb 2018
Bertrand Anne, Wen Junhao, Rinaldi Daisy, Houot Marion, Sayah Sabrina, Camuzat Agnès, Fournier Clémence, Fontanella Sabrina, Routier Alexandre, Couratier Philippe, Pasquier Florence, Habert Marie-Odile, Hannequin Didier, Martinaud Olivier, Caroppo Paola, Levy Richard, Dubois Bruno, Brice Alexis, Durrleman Stanley, Colliot Olivier, Le Ber Isabelle
Abstract excerpt
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...
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