Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study.

Agnès Pérez-MillanSergi Borrego-ÉcijaJohn C van SwietenLize JiskootFermin MorenoRobert LaforceCaroline GraffMario MasellisMaria Carmela TartagliaJames B RoweBarbara BorroniElizabeth FingerMatthis SynofzikDaniela GalimbertiRik VandenbergheAlexandre de MendonçaChris R ButlerAlexander GerhardSimon DucharmeIsabelle Le BerIsabel SantanaFlorence PasquierJohannes LevinMarkus OttoSandro SorbiPietro TiraboschiHarro SeelaarTobias LangheinrichJonathan D RohrerRoser Sala-LlonchRaquel Sanchez-Vallenull null

Published in: Journal of neurology (2022)

We find consistent brainstem WM loss in C9orf72 symptomatic carriers with differences related to the clinical phenotype supporting the use of brainstem measures as neuroimaging biomarkers for disease tracking.

Keyphrases

white matter
multiple sclerosis