Article
Age at onset as a factor in determining the phenotype of primary torsion dystonia.
Neurology - 26 Oct 2004
O'Riordan S, Raymond D, Lynch T, Saunders-Pullman R, Bressman S B, Daly L, Hutchinson M
Abstract excerpt
BACKGROUND: The genetic basis of most forms of primary torsion dystonia (PTD) is unknown; multiplex families are uncommon due to low penetrance. Intrafamilial, age-related, phenotypic heterogeneity was noted in 14 PTD families. The authors hypothesized that the clinical presentation of PTD was modulated by the age at onset of the dystonia, irrespective of the genotype. METHODS: This hypothesis was addressed in a...
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