Objective: The aim of the study was to investigate the potential role of cerebrospinal fluid (CSF)/plasma albumin quotient (Q-Alb) as a biomarker for blood-brain barrier (BBB) integrity and if there was an association between Q-Alb and the prevalence of intrathecal T Helper 17.1 (Th17.1) cells in Huntington´s disease (HD) gene-expansion carriers (HDGECs).

Background: The role of BBB in the pathogenesis of HD is not well understood. We recently found increased prevalence of Th17.1 cells in the CSF of HDGECs. Increased prevalence of intrathecal Th17.1 cells might indicate a dysfunction of the BBB in HD.

Method: A total of 145 HDGECs and controls were included in the study and had a lumbar puncture performed. Forty-four of the participants underwent another lumbar puncture after five years. CSF from 33 HDGECs and controls was analyzed for Th17.1 cells.

Results: No significant difference for Q-Alb was found between the pre-motor manifest HDGECs, motor manifest HDGECs and controls (p = 0.49). We found a significant increase in Q-Alb in HDGECs over the approximately 5-year period (p = 0.001), but when compared with controls, no significant difference was found (p = 0.32).  No significant correlation was found between the prevalence of intrathecal Th17.1 cells and Q-Alb among HDGECs (p = 0.79), nor when investigated according to motor manifest and pre-motor manifest status separately (p = 0.38; p = 0.07, respectively).

Conclusion: Overall, we found a trend towards an increasing BBB leakage of albumin in HDGECs, but no significant differences were found. Our results are in line with results from a previous study on Q-Alb in a small cohort of HDGECs. However, BBB disruption has been observed in HD by visualizing plasma protein in the brain parenchyma post-mortem. Further studies are needed.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-blood-brain-barrier-integrity-and-prevalence-of-intrathecal-t-helper-17-1-cells-in-huntingtons-disease/