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

Hdl Handle:
http://hdl.handle.net/10147/207629
Title:
Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients.
Authors:
Walsh, Richard A; Whelan, Robert; O'Dwyer, John; O'Riordan, Sean; Hutchinson, Siobhan; O'Laoide, Risteard; Malone, Kevin; Reilly, Richard; Hutchinson, Michael
Affiliation:
Department of Neurology, St. Vincent's University Hospital, Elm Park, Dublin 4,, Ireland. richardawalsh@gmail.com
Citation:
J Neurol. 2009 Aug;256(8):1307-13. Epub 2009 Apr 8.
Journal:
Journal of neurology
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207629
DOI:
10.1007/s00415-009-5119-1
PubMed ID:
19353218
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.
Language:
eng
MeSH:
Adult; Atrophy/etiology/pathology/physiopathology; Basal Ganglia Diseases/complications/*pathology/physiopathology; Brain Mapping; Caudate Nucleus/pathology/physiopathology; Cerebral Cortex/pathology/physiopathology; Corpus Striatum/*pathology/physiopathology; Disability Evaluation; Discrimination Learning/physiology; Family Health; Female; Genetic Predisposition to Disease/genetics; Heterozygote; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neuronal Plasticity/physiology; Neuropsychological Tests; Putamen/pathology/physiopathology; Sensation Disorders/etiology/*pathology/physiopathology; Space Perception/physiology; Torticollis/complications/*pathology/physiopathology
ISSN:
1432-1459 (Electronic); 0340-5354 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorWalsh, Richard Aen_GB
dc.contributor.authorWhelan, Roberten_GB
dc.contributor.authorO'Dwyer, Johnen_GB
dc.contributor.authorO'Riordan, Seanen_GB
dc.contributor.authorHutchinson, Siobhanen_GB
dc.contributor.authorO'Laoide, Ristearden_GB
dc.contributor.authorMalone, Kevinen_GB
dc.contributor.authorReilly, Richarden_GB
dc.contributor.authorHutchinson, Michaelen_GB
dc.date.accessioned2012-02-01T10:33:20Z-
dc.date.available2012-02-01T10:33:20Z-
dc.date.issued2012-02-01T10:33:20Z-
dc.identifier.citationJ Neurol. 2009 Aug;256(8):1307-13. Epub 2009 Apr 8.en_GB
dc.identifier.issn1432-1459 (Electronic)en_GB
dc.identifier.issn0340-5354 (Linking)en_GB
dc.identifier.pmid19353218en_GB
dc.identifier.doi10.1007/s00415-009-5119-1en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207629-
dc.description.abstractStructural 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.en_GB
dc.language.isoengen_GB
dc.subject.meshAdulten_GB
dc.subject.meshAtrophy/etiology/pathology/physiopathologyen_GB
dc.subject.meshBasal Ganglia Diseases/complications/*pathology/physiopathologyen_GB
dc.subject.meshBrain Mappingen_GB
dc.subject.meshCaudate Nucleus/pathology/physiopathologyen_GB
dc.subject.meshCerebral Cortex/pathology/physiopathologyen_GB
dc.subject.meshCorpus Striatum/*pathology/physiopathologyen_GB
dc.subject.meshDisability Evaluationen_GB
dc.subject.meshDiscrimination Learning/physiologyen_GB
dc.subject.meshFamily Healthen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshGenetic Predisposition to Disease/geneticsen_GB
dc.subject.meshHeterozygoteen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMagnetic Resonance Imagingen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMiddle Ageden_GB
dc.subject.meshNeuronal Plasticity/physiologyen_GB
dc.subject.meshNeuropsychological Testsen_GB
dc.subject.meshPutamen/pathology/physiopathologyen_GB
dc.subject.meshSensation Disorders/etiology/*pathology/physiopathologyen_GB
dc.subject.meshSpace Perception/physiologyen_GB
dc.subject.meshTorticollis/complications/*pathology/physiopathologyen_GB
dc.titleStriatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients.en_GB
dc.contributor.departmentDepartment of Neurology, St. Vincent's University Hospital, Elm Park, Dublin 4,, Ireland. richardawalsh@gmail.comen_GB
dc.identifier.journalJournal of neurologyen_GB
dc.description.provinceLeinster-

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