Kimmich O, Molloy A, Whelan R, Williams L, Bradley D, Balsters J, Molloy F, Lynch T, Healy DG, Walsh C, O'Riordan S, Reilly RB, - February 4, 2014
The pathogenesis of adult-onset primary dystonia remains poorly understood. There is variable age-related and gender-related expression of the phenotype, the commonest of which is cervical dystonia. Endophenotypes may provide insight into underlying genetic and pathophysiological mechanisms of dystonia. The temporal discrimination threshold (TDT)-the shortest time interval at which two separate stimuli can be detected as being asynchronous-is abnormal both in patients with cervical dystonia and in their unaffected first-degree relatives.