Objective: The objective of this study was to assess the levels of Neurofilament light chain (NfL) in the blood plasma of patients diagnosed with HDL2 and compare them with age, sex, and race-matched patients diagnosed with HD, as well as unaffected control cases. The main aim was to determine whether NfL levels can serve as a distinguishing factor between patients with HDL2 and those with HD, as well as healthy individuals.

Background: Huntington’s disease like-2 (HDL2) is a neurodegenerative disorder caused by CTG/CAG triplet repeat mutation at the junctophilin 3 (JPH3) gene on chromosome 16. It is

the Huntington Disease (HD) phenocopy that has the greatest clinical resemblance to HD. NfL in blood plasma is a key biomarker in HD but it has not been investigated in HDL2.

Method: This cross sectional study compared the NfL plasma concentration, clinical and genetic data of HDL2 (n=12), HD (n=9), and controls (n=9).

Results: The between group comparisons of the log NfL values for the control (X̄=2.1, SD=0.8), HD (X̄=3.9, SD=0.8), and HDL2 (X̄=3.1, SD=0.4) revealed significantly higher (p<0.0006) concentrations of NfL in plasma in clinical groups (HD and HDL2) than in the control group. Group comparisons controlling for age (p=0.033), age and abnormal triplet CAG repeat length (p=0.037), and duration of disease (p=0.037), revealed that NfL in plasma is significantly higher in HD than in HDL2 despite variations in clinical presentation.

Conclusion: NfL has potential to differentiate between either of the clinical groups and the control group, and therefore may constitute a key biomarker for HDL2.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/neurofilament-light-chain-in-huntingtons-disease-like-2-a-cross-sectional-comparison-with-huntingtons-disease/