Session Information
Date: Tuesday, June 6, 2017
Session Title: Huntington's Disease
Session Time: 1:45pm-3:15pm
Location: Exhibit Hall C
Objective: To validate the role of NFL as a marker of disease progression and to discover new biomarkers in HD.
Background: Neurofilament light chain (NFL) is an important protein in the cytoskeleton, and it is generally accepted as a marker of neuronal damage. It has gained clinical use as a prognostic marker in other neurological diseases, but is also suggested to be a good marker of disease stage in Huntington’s disease (HD).
There is a lack of validation of “wet” biomarkers in HD. Proteomic CSF studies have so far yielded conflicting results but with more advanced techniques we hope to validate and discover new proteins involved in the pathophysiology of HD.
Methods: The study was conducted in accordance with the declaration of Helsinki and was approved by the local research ethics committee in Uppsala, Sweden. All participants signed an informed consent before study entry. A standardized protocol for lumbar puncture was applied.
The subjects were assessed with UHDRS total motor score, the cognitive-s test battery and Total Functional Capacity to characterize disease stage.
NFL was quantified by ELISA and a liquid chromotography-mass spectrometry analysis was performed.
Results: The study enrolled manifest HD-patients (n=13) and premanifest HD-gene expansion carriers (n=12). Repeated samples after 1-4 years were obtained (n=10). Healthy control samples (n=5) along with neurological controls (eg. Tension type headache cases) (n=40) were matched with cases for sex and age.
The concentrations of NFL were significantly higher in the manifest HD patients compared with the premanifest gene expansion carriers after adjustment for age (p = 0.003). There was a significant correlation between NFL and disease burden score (r = 0.69, p < 0.01 ). NFL correlated with 5-year probability of disease onset in the premanifest gene expansion carriers (r = 0.72 p = 0.0153). Longitudinal NFL and Proteomics results will be available in early spring.
Conclusions: This is a longitudinal study of CSF biomarkers in HD, a design which has not been published in this field before. The results strengthen the case for NFL as a dynamic marker of disease progression.
To cite this abstract in AMA style:
V. Niemelä, J. Sundblom, A.-M. Landtblom, S. Herman, K. Kultema, D. Nyholm, K. Blennow. Cerebrospinal fluid biomarkers in Huntington’s disease – a longitudinal study [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/cerebrospinal-fluid-biomarkers-in-huntingtons-disease-a-longitudinal-study/. Accessed June 15, 2025.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/cerebrospinal-fluid-biomarkers-in-huntingtons-disease-a-longitudinal-study/