title: Sensory abnormalities in unaffected relatives in familial adult-onset dystonia.
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.
authors.affiliation: Department of Neurology, St Vincent's University Hospital, Dublin 4, Ireland.
authors.forename: J P
authors.initials: JP
authors.lastname: O'Dwyer
authors.forename: S
authors.initials: S
authors.lastname: O'Riordan
authors.forename: R
authors.initials: R
authors.lastname: Saunders-Pullman
authors.forename: S B
authors.initials: SB
authors.lastname: Bressman
authors.forename: F
authors.initials: F
authors.lastname: Molloy
authors.forename: T
authors.initials: T
authors.lastname: Lynch
authors.forename: M
authors.initials: M
authors.lastname: Hutchinson
mesh_terms: D000328:Adult; D000368:Aged; D000375:Aging / Q000473:pathology / Q000502:physiology; D015415:Biomarkers; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D018862:Merkel Cells / Q000473:pathology / Q000502:physiology; D008875:Middle Aged; D009433:Neural Inhibition / Q000235:genetics; D009434:Neural Pathways / Q000503:physiopathology; D010375:Pedigree; D010468:Perceptual Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D010641:Phenotype; D011237:Predictive Value of Tests; D012684:Sensory Thresholds / Q000502:physiology; D013003:Somatosensory Cortex / Q000473:pathology / Q000503:physiopathology; D014110:Touch / Q000502:physiology
chemical_list: D015415:Biomarkers