Onset and progression of primary torsion dystonia in sporadic and familial cases

Anna Rita Bentivoglio, Alberto Albanese, Alfonso Fasano, Tamara Ialongo, Ae Elia, G Filippini

Risultato della ricerca: Contributo in rivistaArticolo in rivista

11 Citazioni (Scopus)

Abstract

Four hundred and sixty records of patients with primary torsion dystonia (296 women and 164 men) were evaluated. The mean age at disease onset was 48.3 +/- 17.7 years; 13 patients carried the DYT1 CAG deletion. The distribution of age at onset was represented by a bi-modal curve, with a nadir at 21 year separating early onset from late onset cases. In 15.9% of cases there was a positive family history of dystonia. Cranial, cervical or lower limb onset was more common amongst women (M:F ratios were 1:2.7, 1:1.9, and 1:3); by contrast, onset in the upper limb was more common in men (M:F ratio 2.2:1). As expected, disease progression was more pronounced in cases with early onset; it was reckoned that onset at or above 32 years was associated with a negligible likelihood to progress to a generalized form. The mean age at onset of familial cases was 44.8 +/- 11.2 years, significantly lower than the mean age at onset of sporadic cases (53.5 +/- 13.4 years). Familial cases were characterized by more sites involved throughout disease course. Familial cases had a higher tendency to progress to a segmental or generalized form than sporadic cases.
Lingua originaleEnglish
pagine (da-a)1083-1088
Numero di pagine6
RivistaEUROPEAN JOURNAL OF NEUROLOGY
Volume13
DOI
Stato di pubblicazionePubblicato - 2006

Keywords

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Disease Progression
  • Dystonia Musculorum Deformans
  • Female
  • Gene Deletion
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Predictive Value of Tests
  • Registries
  • Retrospective Studies

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