dystonia 6, torsion

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dystonia 6, torsion

A primary torsion dystonia (OMIM:602629), which is characterised by onset in early adulthood, cranial or cervical involvement in about half of cases, and frequent progression to multiple body regions. 

Molecular pathology
Defects of THAP1, which encodes a proapototic protein, cause torsion dystonia type 6.
References in periodicals archive ?
Some of the patients have mutations in specific genes including DYT1 and DYT6.
A Direct Interaction between Causative Genes of DYT1 and DYT6 Primary Dystonia, Ann Neurol: 68(4): 549-553.
Sequence variants in the THAP1 gene have been found to be associated with DYT6 dystonia.
A paper entitled "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia" was published February 1, 2009 on-line in the journal Nature Genetics.