CSF neurofilament, daily function, and survival correlates of a MOBP risk variant in the Barcelona PSP Registry: an exploratory study
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Published on: February 13, 2014
Celia Painous1, Manel Fernandez2, Jesica Perez-Montesino2
1Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic I Universitari de Barcelona, IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN-RND & CSUR, CurePSP Care Center & Mission MSA Center of Excellence, Barcelona, Catalonia, Spain; Lab of Parkinson Disease and Other Neurodegenerative Movement Disorders: Clinical and Experimental Research, Area 4 of Institut D'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Catalonia, Spain; UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Catalonia, Spain.
Objectives:
To investigate whether the PSP risk T-allele of the rs1768208 polymorphism at the MOBP locus is associated with neuroaxonal injury, as reflected by CSF levels of neurofilament light chain (CSF-NfL), and with exploratory clinical outcomes related to disease severity and progression.
Methods:
We included patients from the Barcelona PSP Registry, a longitudinal, multicentre cohort. Participants underwent standardized clinical assessments, genetic testing, CSF-NfL determination, and longitudinal follow-up. Associations between MOBP rs1768208 genotype and CSF-NfL levels were evaluated using multivariable models adjusted for age, sex, and phenotype. Daily functioning (Schwab & England Activities of Daily Living, SEADL) and survival were explored as additional clinical outcomes.
Results:
Carriers of the rs1768208 T-allele showed higher CSF-NfL levels in a dose-dependent manner and a higher likelihood of exceeding a clinically relevant CSF-NfL cut-off. Exploratory analyses showed associations of rs1768208 T/T homozygosity with worse functional status and shorter survival.
Discussion:
This is the first study showing an in vivo association between a PSP genetic risk variant and a biomarker of neuroaxonal injury. Exploratory associations with clinical outcomes are aligned with the NfL association. If further confirmed, these findings could improve biological stratification and inform patient selection for, and interpretation of, clinical trials.
