Genetics of dystonia: an overview.

@article{Bressman2007GeneticsOD,
  title={Genetics of dystonia: an overview.},
  author={Susan Bressman},
  journal={Parkinsonism & related disorders},
  year={2007},
  volume={13 Suppl 3},
  pages={S347-55}
}
The torsion dystonias encompass a broad collection of etiologic subtypes, often divided into primary and secondary classes. Over the last two decades an increasing number of genetic causes have been identified, including an important genetic cause for early-onset primary torsion dystonia (PTD): a GAG deletion in exon 5 of DYT1, a gene that encodes torsinA. Although the exact function of torsinA remains elusive, evidence suggests aberrant localization and interaction of mutated protein; this may… CONTINUE READING

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Bressman / Parkinsonism and Related Disorders

  • A Misbahuddin, MR Placzek, KR Chaudhuri, NW Wood, KP S.B. Bhatia
  • Neurology
  • 2007
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