作者
Giorgia Querin, Peter Bede, Mohamed Mounir El Mendili, Menghan Li, Mélanie Pélégrini‐Issac, Daisy Rinaldi, Martin Catala, Dario Saracino, François Salachas, Agnes Camuzat, Véronique Marchand‐Pauvert, Julien Cohen‐Adad, Olivier Colliot, Isabelle Le Ber, Pierre‐François Pradat, Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Study Group
发表日期
2019/8
期刊
Annals of neurology
卷号
86
期号
2
页码范围
158-167
出版商
John Wiley & Sons, Inc.
简介
Objective
C9orf72 hexanucleotide repeats expansions account for almost half of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases. Recent imaging studies in asymptomatic C9orf72 carriers have demonstrated cerebral white (WM) and gray matter (GM) degeneration before the age of 40 years. The objective of this study was to characterize cervical spinal cord (SC) changes in asymptomatic C9orf72 hexanucleotide carriers.
Methods
Seventy‐two asymptomatic individuals were enrolled in a prospective study of first‐degree relatives of ALS and FTD patients carrying the c9orf72 hexanucleotide expansion. Forty of them carried the pathogenic mutation (C9+). Each subject underwent quantitative cervical cord imaging. Structural GM and WM metrics and diffusivity parameters were evaluated at baseline and 18 months later. Data were analyzed in C9+ and C9− subgroups, and C9 …
学术搜索中的文章
Presymptomatic spinal cord pathology in c9orf72 mutation carriers: a longitudinal neuroimaging study
G Querin, P Bede, MM El Mendili, M Li… - Annals of neurology, 2019