title: Onset and progression of primary torsion dystonia in sporadic and familial cases.
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.
authors.affiliation: Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy.
authors.forename: A E
authors.initials: AE
authors.lastname: Elia
authors.forename: G
authors.initials: G
authors.lastname: Filippini
authors.forename: A R
authors.initials: AR
authors.lastname: Bentivoglio
authors.forename: A
authors.initials: A
authors.lastname: Fasano
authors.forename: T
authors.initials: T
authors.lastname: Ialongo
authors.forename: A
authors.initials: A
authors.lastname: Albanese
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D004422:Dystonia Musculorum Deformans / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D011237:Predictive Value of Tests; D012042:Registries; D012189:Retrospective Studies