Journal of Neurology

, Volume 256, Issue 8, pp 1307–1313 | Cite as

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

  • Richard A. Walsh
  • Robert Whelan
  • John O’Dwyer
  • Sean O’Riordan
  • Siobhan Hutchinson
  • Risteard O’Laoide
  • Kevin Malone
  • Richard Reilly
  • Michael Hutchinson
Original Communication


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.


Dystonia Voxel-based morphometry Spatial discrimination Basal ganglia 



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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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Richard A. Walsh
    • 1
  • Robert Whelan
    • 1
    • 3
    • 4
  • John O’Dwyer
    • 1
  • Sean O’Riordan
    • 1
  • Siobhan Hutchinson
    • 1
  • Risteard O’Laoide
    • 2
  • Kevin Malone
    • 3
  • Richard Reilly
    • 4
  • Michael Hutchinson
    • 1
  1. 1.Department of NeurologySt. Vincent’s University HospitalDublin 4Ireland
  2. 2.Department of RadiologySt. Vincent’s University HospitalDublinIreland
  3. 3.Department of PsychiatrySt. Vincent’s University HospitalDublinIreland
  4. 4.Department of Electronic EngineeringUniversity College DublinDublinIreland

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