Bertrand A, Wen J, Rinaldi D, Houot M, Sayah S, Camuzat A, Fournier C, Fontanella S, Routier A, Couratier P, Pasquier F, Habert MO, Hannequin D, Martinaud O, Caroppo P, Levy R, Dubois B, Brice A, Durrleman S, Colliot O, Le Ber I, Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis (PREV-DEMALS) Study Group. Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years. JAMA Neurol. 2018 Feb 1;75(2):236-245. PubMed.

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  1. This large cohort of presymptomatic C9ORF72 expansion carriers shows a surprising and interesting new finding of lower praxis scores. Future longitudinal studies will be needed to determine whether the early gray-matter and white-matter deficits also seen in presymptomatic C9ORF72 expansion carriers reflect developmental differences or early neurodegenerative changes.

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