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

A. E. Elia, G. Filippini, A. R. Bentivoglio, A. Fasano, T. Ialongo, A. Albanese

Research output: Contribution to journalArticle

10 Citations (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.

Original languageEnglish
Pages (from-to)1083-1088
Number of pages6
JournalEuropean Journal of Neurology
Volume13
Issue number10
DOIs
Publication statusPublished - Oct 2006

Fingerprint

Age of Onset
Dystonia
Upper Extremity
Disease Progression
Lower Extremity
Dystonia musculorum deformans type 1

Keywords

  • Dystonia
  • DYT1
  • Familial cases
  • Genetics

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Onset and progression of primary torsion dystonia in sporadic and familial cases. / Elia, A. E.; Filippini, G.; Bentivoglio, A. R.; Fasano, A.; Ialongo, T.; Albanese, A.

In: European Journal of Neurology, Vol. 13, No. 10, 10.2006, p. 1083-1088.

Research output: Contribution to journalArticle

Elia, A. E. ; Filippini, G. ; Bentivoglio, A. R. ; Fasano, A. ; Ialongo, T. ; Albanese, A. / Onset and progression of primary torsion dystonia in sporadic and familial cases. In: European Journal of Neurology. 2006 ; Vol. 13, No. 10. pp. 1083-1088.
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