Volumetric analysis of the hypothalamus in Huntington Disease using 3T MRI: the IMAGE-HD Study

PLoS One. 2015 Feb 6;10(2):e0117593. doi: 10.1371/journal.pone.0117593. eCollection 2015.


Huntington disease (HD) is a fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. Non-motor symptoms and signs such as psychiatric disturbances, sleep problems and metabolic dysfunction are part of the disease manifestation. These aspects may relate to changes in the hypothalamus, an area of the brain involved in the regulation of emotion, sleep and metabolism. Neuropathological and imaging studies using both voxel-based morphometry (VBM) of magnetic resonance imaging (MRI) as well as positron emission tomography (PET) have demonstrated pathological changes in the hypothalamic region during early stages in symptomatic HD. In this investigation, we aimed to establish a robust method for measurements of the hypothalamic volume in MRI in order to determine whether the hypothalamic dysfunction in HD is associated with the volume of this region. Using T1-weighted imaging, we describe a reproducible delineation procedure to estimate the hypothalamic volume which was based on the same landmarks used in histologically processed postmortem hypothalamic tissue. Participants included 36 prodromal HD (pre-HD), 33 symptomatic HD (symp-HD) and 33 control participants who underwent MRI scanning at baseline and 18 months follow-up as part of the IMAGE-HD study. We found no evidence of cross-sectional or longitudinal changes between groups in hypothalamic volume. Our results suggest that hypothalamic pathology in HD is not associated with volume changes.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Follow-Up Studies
  • Humans
  • Huntington Disease / diagnostic imaging*
  • Hypothalamus / diagnostic imaging*
  • Male
  • Middle Aged
  • Organ Size
  • Positron-Emission Tomography*
  • Radiography

Grant support

This work was supported by grants from the Swedish Research Council (grant numbers 2008-3092, 2010-4500, 2012-5854 and 2013-3537), the Bagadilico network, the province of Skåne ALF, the Ragnar Söderberg Foundation, the CHDI Foundation Inc. New York (USA) (grant number A – 3433) and the National Health and Medical Research Council (NHMRC, Australia) (grant number 606650). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.