. 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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