Novel mutation in the TOR1A [DYT1] gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism

Joanne Chung On Leung, Christine Klein, Jennifer Friedman, Peter Vieregge, Helfried Jacobs, Dana Doheny, Christoph Kamm, Deborah DeLeon, Peter P. Pramstaller, John B. Penney, Marvin Eisengart, Joseph Jankovic, Thomas Gasser, Susan B. Bressman, David P. Corey, Patricia Kramer, Mitchell F. Brin, Laurie J. Ozelius, Xandra O. Breakefield

Research output: Contribution to journalArticlepeer-review

160 Scopus citations


Dystonia is a movement disorder involving sustained muscle contractions and abnormal posturing with a strong hereditary predisposition and without a distinct neuropathology. In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which frequently presents with dystonic symptoms. In a screen of 40 patients, we identified three variations, none of which occurred in EOP patients. Two infrequent intronic single base pair (bp) changes of unknown consequences were found in a dystonia patient and the mother of an EOP patient. An 18-bp deletion (Phe323_Tyr328del) in the TOR1A gene was found in a patient with early onset dystonia and myoclonic features. This deletion would remove 6 amino acids close to the carboxy terminus, including a putative phosphorylation site of torsinA. This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia.

Original languageEnglish (US)
Pages (from-to)133-143
Number of pages11
Issue number3
StatePublished - 2001


  • 18-bp deletion
  • Early onset parkinsonism
  • Multiphor single-strand conformational polymorphism analysis
  • Myoclonus-dystonia
  • TOR1A (DYT1)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Cellular and Molecular Neuroscience


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