Ontology highlight
ABSTRACT:
SUBMITTER: Wilke C
PROVIDER: S-EPMC7338806 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Wilke Carlo C Haas Eva E Reetz Kathrin K Faber Jennifer J Garcia-Moreno Hector H Santana Magda M MM van de Warrenburg Bart B Hengel Holger H Lima Manuela M Filla Alessandro A Durr Alexandra A Melegh Bela B Masciullo Marcella M Infante Jon J Giunti Paola P Neumann Manuela M de Vries Jeroen J Pereira de Almeida Luis L Rakowicz Maria M Jacobi Heike H Schüle Rebecca R Kaeser Stephan A SA Kuhle Jens J Klockgether Thomas T Schöls Ludger L Barro Christian C Hübener-Schmid Jeannette J Synofzik Matthis M
EMBO molecular medicine 20200608 7
With molecular treatments coming into reach for spinocerebellar ataxia type 3 (SCA3), easily accessible, cross-species validated biomarkers for human and preclinical trials are warranted, particularly for the preataxic disease stage. We assessed serum levels of neurofilament light (NfL) and phosphorylated neurofilament heavy (pNfH) in ataxic and preataxic subjects of two independent multicentric SCA3 cohorts and in a SCA3 knock-in mouse model. Ataxic SCA3 subjects showed increased levels of both ...[more]