Primary torsion dystonia: the search for genes is not over (original) (raw)
Primary torsion dystonia: the search for genes is not over
- P R Jarmana,
- N del Grossob,
- E M Valentea,
- B Leubec,
- E Cassettad,
- A R Bentivogliod,
- H M Waddye,
- R J Uittif,
- D M Maraganoreg,
- A Albanesed,
- M Frontalib,
- G Auburgerc,
- S B Bressmanh,
- N W Wooda,
- T G Nygaardh
- aDepartment of Clinical Neurology, Institute of Neurology, London, UK, bInstituto di Medicina Sperimentale, CNR, Roma, Italy, cDepartment of Neurology, University Hospital, Düsseldorf, Germany, dInstitute of Neurology, Universita Cattolica del S Cuore, Roma, Italy, eDepartment of Neurology, Royal Adelaide Hospital, Australia, fMayo Clinic Jacksonville, Florida, USA, gDepartment of Neurology, Mayo Clinic, Rochester, MN, USA, hDepartment of Neurology, Columbia-Presbyterian Medical Center, New York, NY, USA
- Dr Nicholas Wood, Department of Clinical Neurology, Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Telephone 0044 171 837 3611; fax 0044 171 278 5616.
Abstract
A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic loci for an “intermediate dystonia” phenotype and for torticollis, named DYT6 and DYT7 respectively, have recently been mapped in single families. To evaluate the contribution of these genetic loci to other families with familial “non-DYT1” dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions. There was no evidence of linkage to either locus in any family. These findings illustrate the genetic heterogeneity of the dystonias and indicate the existence of one or more as yet unmapped genes for dystonia. Large collaborative efforts will be required to identify these, and additional genes, causing PTD.
- primary torsion dystonia
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