The aim of our study was to assess the association of TOR1A and THAP1 with adult-onset primary focal dystonia (AOPFD), the most common subtype of primary dystonia.
While deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in treating primary dystonia, recent reports indicate that GPi DBS is only mildly effective for DYT6 dystonia.
In previous work, we screened 1114 subjects with mainly adult-onset primary dystonia (Neurology 2010; 74:229-238) and identified 6 missense mutations in THAP1.
The transcription factor THAP1 (THanatos Associated Protein 1) has emerged recently as the cause of DYT6primary dystonia, a type of rare, familial and mostly early-onset syndrome that leads to involuntary muscle contractions.
With high-resolution melting, all 3 THAP1 exons were screened for sequence variants in 1,114 subjects with mainly adult-onset primary dystonia, 96 with unclassified dystonia, and 600 controls (400 neurologically normal and 200 with Parkinson disease).
Mutations in THAP1 were recently identified as the cause of DYT6primary dystonia; a founder mutation was detected in Amish-Mennonite families, and a different mutation was identified in another family of European descent.