Neurogenetics

, Volume 3, Issue 3, pp 133–143

Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism

  • Joanne 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
Original Article

DOI: 10.1007/s100480100111

Cite this article as:
Leung, J., Klein, C., Friedman, J. et al. Neurogenetics (2001) 3: 133. doi:10.1007/s100480100111

Abstract.

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.

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

Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • Joanne Leung
    • 1
  • Christine Klein
    • 1
  • Jennifer Friedman
    • 1
  • Peter Vieregge
    • 2
  • Helfried Jacobs
    • 2
  • Dana Doheny
    • 3
  • Christoph Kamm
    • 1
  • Deborah DeLeon
    • 4
  • Peter P. Pramstaller
    • 5
  • John B. Penney
    • 1
  • Marvin Eisengart
    • 10
  • Joseph Jankovic
    • 6
  • Thomas Gasser
    • 7
  • Susan B. Bressman
    • 4
  • David P. Corey
    • 8
  • Patricia Kramer
    • 9
  • Mitchell F. Brin
    • 3
  • Laurie J. Ozelius
    • 11
  • Xandra O. Breakefield
    • 1
  1. 1.Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114USA
  2. 2.Department of Neurology, Medical University of Lübeck, LübeckGermany
  3. 3.Movement Disorders Center, Mount Sinai Hospital, New York, NY 10029USA
  4. 4.Department of Neurology, Beth Israel Medical Center, New York, NY 10003USA
  5. 5.Department of Neurology, Regional General Hospital, Bolzano-BozenItaly
  6. 6.Department of Neurology, Baylor College of Medicine, Houston, TX 77030USA
  7. 7.Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-University, MunichGermany
  8. 8.Howard Hughes Medical Institute, Massachusetts General Hospital and Neurobiology Department, Harvard Medical School, Boston, MA 02114USA
  9. 9.Department of Neurology, Oregon Health Sciences University, Portland, OR 97201USA
  10. 10.MaineGeneral Medical Center, Waterville, ME 04901USA
  11. 11.Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461USA
  12. 12.Massachusetts General Hospital-East, Department of Molecular Neurogenetics, 13th Street, Building 149, 6th Floor, Charlestown, MA 02129USA

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