Progressive hepatic mitochondrial dysfunction in premanifest Huntington's disease

Background A subclinical, hepatic involvement in manifest and premanifest Huntington's disease (HD) was recently demonstrated by using the 1 3 C‐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 13 CO 2 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