Temporal discrimination thresholds as an endophenotype in adult-onset primary torsion dystonia

Abstract

Adult onset primary torsion dystonia (AOPTD) is the most common form of dystonia and is an autosomal dominant disorder with markedly reduced penetrance. Most AOPTD patients therefore present as "sporadic" cases. Disordered sensory processing is found in AOPTD patients; if also present in their unaffected relatives this abnormality may indicate nonmanifesting gene carriage (an endophenotype).