D15 The blood-brain barrier integrity and frequency of CSF Th17.1 cells in Huntington´s disease

Abstract

Background

The role of blood-brain barrier (BBB) in the pathogenesis of Huntington´s disease (HD) is not well understood. We recently found increased frequency of Th17.1 cells in the cerebrospinal fluid (CSF) of HD gene-expansion carriers (HDGECs). The aim of the study was to investigate the BBB integrity as measured by the CSF/plasma albumin ratio (Q-Alb) and correlate to the frequency of CSF Th17.1 cells in HDGECs.

Methods

A total of 155 HDGEC and healthy controls (HC) were included in the study and had a lumbar puncture performed. In addition, 60 HDGEGs and HC underwent a lumbar puncture twice with a 5-year interval. CSF from 45 HDGECs and HC was analyzed for Th17.1 cells.

Results

No significant differences for Q-Alb were found between the premanifest HDGECs (Q-Alb mean (SD) = 5.37 (2.46)), manifest HDGEC (Q-Alb mean (SD) = 5.57 (2.83)) and HC (Q-Alb mean (SD) = 5.12 (1.68)) (p = 0.27). We found a significant increase in Q-Alb in HDGECs over 5-year period (p = 0.009), but when compared with HC, no significant difference was found (p = 0.74). No correlation was found between prevalence of Th17.1 cells in the CSF and Q-Alb among HDGEC (p = 0.79).

Conclusion

Overall, we found a trend toward 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 post-mortem. Further studies are needed.