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Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients

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Abstract

Structural grey matter abnormalities have been described in adult-onset primary torsion dystonia (AOPTD). Altered spatial discrimination thresholds are found in familial and sporadic AOPTD and in some unaffected relatives who may be non-manifesting gene carriers. Our hypothesis was that a subset of unaffected relatives with abnormal spatial acuity would have associated structural abnormalities. Twenty-eight unaffected relatives of patients with familial cervical dystonia, 24 relatives of patients with sporadic cervical dystonia and 27 control subjects were recruited. Spatial discrimination thresholds (SDTs) were determined using a grating orientation task. High-resolution magnetic resonance imaging (MRI) images (1.5 T) were analysed using voxel-based morphometry. Unaffected familial relatives with abnormal SDTs had reduced caudate grey matter volume (GMV) bilaterally relative to those with normal SDTs (right Z = 3.45, left Z = 3.81), where there was a negative correlation between SDTs and GMV (r = −0.76, r 2 = 0.58, p < 0.0001). Familial relatives also had bilateral sensory cortical expansion relative to unrelated controls (right Z = 4.02, left Z = 3.79). Unaffected relatives of patients with sporadic cervical dystonia who had abnormal SDTs had reduced putaminal GMV bilaterally compared with those with normal SDTs (right Z = 3.96, left Z = 3.45). Sensory abnormalities in some unaffected relatives correlate with a striatal substrate and may be a marker of genetic susceptibility in these individuals. Further investigation of grey matter changes as a candidate endophenotype may assist future genetic studies of dystonia.

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Acknowledgements

This study was funded by Dystonia Ireland and a University College Dublin Seed Funding grant.

Conflict of interest statement

The authors report no conflicts of interest.

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Authors and Affiliations

  1. Department of Neurology, St. Vincent’s University Hospital, Elm Park, Dublin 4, Ireland

    Richard A. Walsh, Robert Whelan, John O’Dwyer, Sean O’Riordan, Siobhan Hutchinson & Michael Hutchinson

  2. Department of Radiology, St. Vincent’s University Hospital, Dublin, Ireland

    Risteard O’Laoide

  3. Department of Psychiatry, St. Vincent’s University Hospital, Dublin, Ireland

    Robert Whelan & Kevin Malone

  4. Department of Electronic Engineering, University College Dublin, Dublin, Ireland

    Robert Whelan & Richard Reilly

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  1. Richard A. Walsh
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  2. Robert Whelan
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  3. John O’Dwyer
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  4. Sean O’Riordan
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  5. Siobhan Hutchinson
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  6. Risteard O’Laoide
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  7. Kevin Malone
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  9. Michael Hutchinson
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Correspondence to Richard A. Walsh.

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Walsh, R.A., Whelan, R., O’Dwyer, J. et al. Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients. J Neurol 256, 1307–1313 (2009). https://doi.org/10.1007/s00415-009-5119-1

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  • DOI: https://doi.org/10.1007/s00415-009-5119-1

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