DYT6 Dystonia: A Neuropathological Study.
London, United Kingdom. In Neurodegener Dis, Dec 2015
BACKGROUND: Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6).
Genetics in dystonia.
Lübeck, Germany. In Parkinsonism Relat Disord, 2014
Confirmed genes for isolated dystonias include TOR1A/DYT1; THAP1/DYT6; GNAL/DYT25.
Dystonia--new advances in classification, genetics, pathophysiology and treatment.
Oslo, Norway. In Acta Neurol Scand Suppl, 2013
The discovery of the first two gene mutations causing primary generalized dystonia (DYT1-TOR1A and DYT6-THAP1) has facilitated studies on pathogenesis and pathophysiology of primary dystonias, by comparing neurophysiology between manifesting and non-manifesting carriers, and by studying the molecular biology of the mutant gene products.
In Continuum (minneap Minn), 2013
Isolated dystonia (with dystonic tremor) can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), PRKRA (DYT16), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25).