Non-DYT1 early-onset primary torsion dystonia: Comparison with DYT1 phenotype and review of the literature

Alfonso Fasano, Nardo Nardocci, Antonio Emanuele Elia, Giovanna Zorzi, Anna Rita Bentivoglio, Alberto Albanese

Research output: Contribution to journalArticlepeer-review

Abstract

To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were noted. The 14 patients (25%) with GAG deletion (904_906/907_909delGAG) in the DYT1 gene were compared with the remaining non-DYT1 patients. Cranial involvement was present in 49% of non-DYT1 cases, but only 14% of DYT1 cases; non-DYT1 patients were younger at time of generalization. DYT1 cases had features similar to sporadic non-DYT1 cases but differed markedly from familial non-DYT1 cases, the latter having later age at onset, less common limb onset, more frequent cervical involvement, and slower progression than DYT1 PTD. These findings indicate that non-DYT1 forms of EO-PTD differ clinically from those of DYT1 forms. Cranial involvement before 21 years of age is the strongest predictor of non-DYT1 status. Positive family history and cervical involvement are associated with less severe progression in non-DYTI form 2006 Movement Disorder in non-DYT1 forms.

Original languageEnglish
Pages (from-to)1411-1418
Number of pages8
JournalMovement Disorders
Volume21
Issue number9
DOIs
Publication statusPublished - Sep 2006

Keywords

  • Childhood onset
  • Dystonia
  • DYT1
  • Familial
  • Genetics
  • Sporadic

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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