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Semin Neurol 2011; 31(5): 441-448
DOI: 10.1055/s-0031-1299783
© Thieme Medical Publishers

Genetics of Dystonia

Tania Fuchs1 , Laurie J. Ozelius2
  • 1Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York
  • 2Department of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, New York
Further Information

Publication History

Publication Date:
21 January 2012 (online)

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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

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