Abstract
Somatosensory abnormalities are found in adult-onset primary torsion dystonia (PTD). Therefore we assessed spatial discrimination thresholds (SDT), a measure of spatial acuity, in four multiplex families with adult-onset PTD. In family members aged 20 to 45 years vs controls (mean + 2.5 SD), abnormal SDTs were found in four of five affected with adult-onset PTD and in 12 of 49 unaffected relatives. Sensory abnormalities may be an endophenotype, possibly expressed later as adult-onset PTD.
MeSH terms
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Adult
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Aged
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Aging / pathology
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Aging / physiology
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Biomarkers
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Dystonic Disorders / diagnosis
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Dystonic Disorders / genetics*
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Dystonic Disorders / physiopathology*
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Female
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Genetic Carrier Screening / methods*
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Genetic Predisposition to Disease / genetics*
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Humans
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Male
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Merkel Cells / pathology
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Merkel Cells / physiology
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Middle Aged
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Neural Inhibition / genetics
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Neural Pathways / physiopathology
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Pedigree
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Perceptual Disorders / diagnosis
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Perceptual Disorders / genetics*
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Perceptual Disorders / physiopathology*
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Phenotype
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Predictive Value of Tests
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Sensory Thresholds / physiology
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Somatosensory Cortex / pathology
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Somatosensory Cortex / physiopathology
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Touch / physiology