Source:http://linkedlifedata.com/resource/pubmed/id/19353218
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8
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| pubmed:dateCreated |
2009-8-6
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| pubmed:abstractText |
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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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:status |
MEDLINE
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| pubmed:month |
Aug
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| pubmed:issn |
1432-1459
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
256
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
1307-13
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| pubmed:meshHeading |
pubmed-meshheading:19353218-Adult,
pubmed-meshheading:19353218-Atrophy,
pubmed-meshheading:19353218-Basal Ganglia Diseases,
pubmed-meshheading:19353218-Brain Mapping,
pubmed-meshheading:19353218-Caudate Nucleus,
pubmed-meshheading:19353218-Cerebral Cortex,
pubmed-meshheading:19353218-Corpus Striatum,
pubmed-meshheading:19353218-Disability Evaluation,
pubmed-meshheading:19353218-Discrimination Learning,
pubmed-meshheading:19353218-Family Health,
pubmed-meshheading:19353218-Female,
pubmed-meshheading:19353218-Genetic Predisposition to Disease,
pubmed-meshheading:19353218-Heterozygote,
pubmed-meshheading:19353218-Humans,
pubmed-meshheading:19353218-Magnetic Resonance Imaging,
pubmed-meshheading:19353218-Male,
pubmed-meshheading:19353218-Middle Aged,
pubmed-meshheading:19353218-Neuronal Plasticity,
pubmed-meshheading:19353218-Neuropsychological Tests,
pubmed-meshheading:19353218-Putamen,
pubmed-meshheading:19353218-Sensation Disorders,
pubmed-meshheading:19353218-Space Perception,
pubmed-meshheading:19353218-Torticollis
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| pubmed:year |
2009
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| pubmed:articleTitle |
Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients.
|
| pubmed:affiliation |
Department of Neurology, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland. richardawalsh@gmail.com
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|