Background
A subclinical, hepatic involvement in manifest and premanifest Huntington's disease (HD) was recently demonstrated by using the 13C‐methionine breath test (MeBT). In this longitudinal pilot study, we investigated whether there is evidence for progressive hepatic mitochondrial dysfunction in premanifest HD.
Methods
The MeBT was performed within a group of 25 well‐characterized premanifest HD mutation carriers at baseline and in a 14.5‐month follow‐up.
Results
The total group of mutation carriers (P = 0.033; Cohen's d = 0.6) and the subgroup of mutation carriers from our PreHD‐B subgroup (nearer to disease onset; P = 0.030; Cohen's d = 1.12) revealed a lower amount of exhaled 13CO2 in the follow‐up.
Conclusions
This study demonstrates in vivo progressive, subclinical, hepatic involvement in premanifest HD. Limitations of the study, such as high variance in breath test results, are discussed. © 2014 International Parkinson and Movement Disorder Society © 2014 International Parkinson and Movement Disorder Society