The role of DYT1 in primary torsion dystonia in Europe

This study provides evidence that the GAG deletion in the

E. Valente

2002

Scholarcy highlights

  • The dystonias are a clinically and genetically heterogeneous group of movement disorders characterized by sustained involuntary muscle contractions causing twisting movements and abnormal postures
  • The classification of dystonias has recently been revised with subdivision into four categories: primary torsion dystonia, where the phenotype is of dystonia alone, which may be accompanied by tremor; dystonia-plus syndromes, where the dystonia may be accompanied by other neurological features such as parkinsonism or myoclonus; secondary dystonias, resulting from environmental factors; heredodegenerative diseases, where dystonia is part of a more complex clinical neurodegenerative phenotype, such as Huntington’s disease and Wilson’s disease
  • The GAG deletion in the DYT1 gene does not account for all cases of typical early-onset dystonia, as five out of 19 probands screened by Ozelius did not carry this deletion
  • DYT1 gene is responsible for the majority of cases of early, limb-onset dystonia in both Jewish and non-Jewish European families
  • previous research in North American Primary torsion dystonia families, and support the contention that a single mutation is responsible for the majority of cases with typical early-onset dystonia, regardless of the ethnic background and the ancestral origin of the patients
  • We maintained the term ‘typical DYT1 phenotype’ only for the selected group characterized by early limb-onset generalized dystonia without spread to the craniocervical muscles
  • MF, et al The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews

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