TY - JOUR
T1 - Temporal discrimination
T2 - Mechanisms and relevance to adult-onset dystonia
AU - Conte, Antonella
AU - McGovern, Eavan M.
AU - Narasimham, Shruti
AU - Beck, Rebecca
AU - Killian, Owen
AU - O'Riordan, Sean
AU - Reilly, Richard B.
AU - Hutchinson, Michael
N1 - Publisher Copyright:
© 2017 Conte, McGovern, Narasimham, Beck, Killian, O'Riordan, Reilly and Hutchinson.
PY - 2017/11/28
Y1 - 2017/11/28
N2 - Temporal discrimination is the ability to determine that two sequential sensory stimuli are separated in time. For any individual, the temporal discrimination threshold (TDT) is the minimum interval at which paired sequential stimuli are perceived as being asynchronous; this can be assessed, with high test-retest and inter-rater reliability, using a simple psychophysical test. Temporal discrimination is disordered in a number of basal ganglia diseases including adult-onset dystonia, of which the two most common phenotypes are cervical dystonia and blepharospasm. The causes of adult-onset focal dystonia are unknown; genetic, epigenetic, and environmental factors are relevant. Abnormal TDTs in adult-onset dystonia are associated with structural and neurophysiological changes considered to reflect defective inhibitory interneuronal processing within a network which includes the superior colliculus, basal ganglia, and primary somatosensory cortex. It is hypothesized that abnormal temporal discrimination is a mediational endophenotype and, when present in unaffected relatives of patients with adult-onset dystonia, indicates non-manifesting gene carriage. Using the mediational endophenotype concept, etiological factors in adult-onset dystonia may be examined including (i) the role of environmental exposures in disease penetrance and expression; (ii) sexual dimorphism in sex ratios at age of onset; (iii) the pathogenesis of non-motor symptoms of adult-onset dystonia; and (iv) subcortical mechanisms in disease pathogenesis.
AB - Temporal discrimination is the ability to determine that two sequential sensory stimuli are separated in time. For any individual, the temporal discrimination threshold (TDT) is the minimum interval at which paired sequential stimuli are perceived as being asynchronous; this can be assessed, with high test-retest and inter-rater reliability, using a simple psychophysical test. Temporal discrimination is disordered in a number of basal ganglia diseases including adult-onset dystonia, of which the two most common phenotypes are cervical dystonia and blepharospasm. The causes of adult-onset focal dystonia are unknown; genetic, epigenetic, and environmental factors are relevant. Abnormal TDTs in adult-onset dystonia are associated with structural and neurophysiological changes considered to reflect defective inhibitory interneuronal processing within a network which includes the superior colliculus, basal ganglia, and primary somatosensory cortex. It is hypothesized that abnormal temporal discrimination is a mediational endophenotype and, when present in unaffected relatives of patients with adult-onset dystonia, indicates non-manifesting gene carriage. Using the mediational endophenotype concept, etiological factors in adult-onset dystonia may be examined including (i) the role of environmental exposures in disease penetrance and expression; (ii) sexual dimorphism in sex ratios at age of onset; (iii) the pathogenesis of non-motor symptoms of adult-onset dystonia; and (iv) subcortical mechanisms in disease pathogenesis.
KW - Adult-onset focal dystonia
KW - Blepharospasm
KW - Cervical dystonia
KW - Endophenotype
KW - Superior colliculus
KW - Temporal discrimination threshold
UR - http://www.scopus.com/inward/record.url?scp=85035333945&partnerID=8YFLogxK
U2 - 10.3389/fneur.2017.00625
DO - 10.3389/fneur.2017.00625
M3 - Review article
AN - SCOPUS:85035333945
SN - 1664-2295
VL - 8
JO - Frontiers in Neurology
JF - Frontiers in Neurology
IS - NOV
M1 - 625
ER -