Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy.

Rachael I Scahill, Nicola Z Hobbs, Miranda J Say, Natalie Bechtel, Susie M D Henley, Harpreet Hyare, Douglas R Langbehn, Rebecca Jones, Blair R Leavitt, Raymund A C Roos, Alexandra Durr, Hans Johnson, Stéphane Lehéricy, David Craufurd, Christopher Kennard, Stephen L Hicks, Julie C Stout, Ralf Reilmann, Sarah J Tabrizi, Natalie Arran (Collaborator)Eric Axelson (Collaborator), Eric Bardinet (Collaborator), Simon J A van Bogaard (Collaborator), Jenny Callaghan (Collaborator), Colin Campbell (Collaborator), Melissa Campbell (Collaborator), Allison Coleman (Collaborator), Rachelle Dar Santos (Collaborator), Joji Decolongon (Collaborator), Eve Dumas (Collaborator), Nick Fox (Collaborator), Ellen Frajman (Collaborator), Jeroen van der Grond (Collaborator), Ellen t'Hart (Collaborator), Arndt Hoffman (Collaborator), Céline Jauffret (Collaborator), Damian Justo (Collaborator), Siobhan Keenan (Collaborator), Nayana Lahiri (Collaborator), Bernhard Landwehmeyer (Collaborator), Stephanie Lee (Collaborator), Cecilia Marelli (Collaborator), Cassie Milchman (Collaborator), Jim Mills (Collaborator), William Monaco (Collaborator), Kevin Nigaud (Collaborator), Alison O'Regan (Collaborator), Roger Ordidge (Collaborator), Gail Owen (Collaborator), Tracey Pepple (Collaborator), Sarah Queller (Collaborator), Joy Read (Collaborator), H Diana Rosas (Collaborator), Aaron Sturrock (Collaborator), Romain Valabre (Collaborator), Chiachi Wang (Collaborator), Kathryn Whitlock (Collaborator)

    Research output: Contribution to journalArticlepeer-review


    TRACK-HD is a multicentre longitudinal observational study investigating the use of clinical assessments and 3-Tesla magnetic resonance imaging as potential biomarkers for future therapeutic trials in Huntington's disease (HD). The cross-sectional data from this large well-characterized dataset provide the opportunity to improve our knowledge of how the underlying neuropathology of HD may contribute to the clinical manifestations of the disease across the spectrum of premanifest (PreHD) and early HD. Two hundred and thirty nine gene-positive subjects (120 PreHD and 119 early HD) from the TRACK-HD study were included. Using voxel-based morphometry (VBM), grey and white matter volumes were correlated with performance in four domains: quantitative motor (tongue force, metronome tapping, and gait); oculomotor [anti-saccade error rate (ASE)]; cognition (negative emotion recognition, spot the change and the University of Pennsylvania smell identification test) and neuropsychiatric measures (apathy, affect and irritability). After adjusting for estimated disease severity, regionally specific associations between structural loss and task performance were found (familywise error corrected, P <0.05); impairment in tongue force, metronome tapping and ASE were all associated with striatal loss. Additionally, tongue force deficits and ASE were associated with volume reduction in the occipital lobe. Impaired recognition of negative emotions was associated with volumetric reductions in the precuneus and cuneus. Our study reveals specific associations between atrophy and decline in a range of clinical modalities, demonstrating the utility of VBM correlation analysis for investigating these relationships in HD.
    Original languageEnglish
    Pages (from-to)519-529
    Number of pages10
    JournalHuman Brain Mapping
    Issue number3
    Publication statusPublished - Mar 2013


    • Magnetic resonance imaging
    • TRACK-HD
    • Voxel-based morphometry


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