Drs. Hoffmann and Stüwe contributed equally.
Progressive hepatic mitochondrial dysfunction in premanifest Huntington's disease
Article first published online: 7 APR 2014
© 2014 International Parkinson and Movement Disorder Society
Volume 29, Issue 6, pages 831–834, May 2014
How to Cite
Hoffmann, R., Stüwe, S. H., Goetze, O., Banasch, M., Klotz, P., Lukas, C., Tegenthoff, M., Beste, C., Orth, M. and Saft, C. (2014), Progressive hepatic mitochondrial dysfunction in premanifest Huntington's disease. Mov. Disord., 29: 831–834. doi: 10.1002/mds.25862
Funding agencies: Carsten Saft was supported by a FoRUM grant, University of Bochum (AZ: K040-09).
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 6 MAY 2014
- Article first published online: 7 APR 2014
- Manuscript Accepted: 13 JAN 2014
- Manuscript Revised: 2 JAN 2014
- Manuscript Received: 15 AUG 2013
- premanifest Huntington's disease;
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.
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.
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.
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