Sensory abnormalities in unaffected relatives in familial adult-onset dystonia.
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.
O'Dwyer
J P
JP
Department of Neurology, St Vincent's University Hospital, Dublin 4, Ireland.
O'Riordan
S
S
Saunders-Pullman
R
R
Bressman
S B
SB
Molloy
F
F
Lynch
T
T
Hutchinson
M
M
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
D015415:Biomarkers