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DOI: 10.1055/s-0031-1299783
Genetics of Dystonia
Publikationsverlauf
Publikationsdatum:
21. Januar 2012 (online)

ABSTRACT
Dystonia is characterized by muscle contractions leading to abnormal postures with involuntary twisting and repetitive movements. Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1, 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20). Currently, 19 loci including 10 genes have been identified for inherited dystonias. In this review, the phenotypes associated with these loci and the responsible genes will be discussed.
KEYWORDS
Primary torsion dystonia - dystonia plus - paroxysmal dystonia - dystonia genes
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Laurie J. OzeliusPh.D.
Associate Professor, Department of Genetics and Genomic Sciences and Neurology, Mount
Sinai School of Medicine
One Gustave L. Levy Place, Box 1498, New York, NY 10029
eMail: laurie.ozelius@mssm.edu