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Article

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.

Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2002

Brancati Francesco, Defazio Giovanni, Caputo Viviana, Valente Enza Maria, Pizzuti Antonio, Livrea Paolo, Berardelli Alfredo, Dallapiccola Bruno

Abstract excerpt

We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. These...

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PMID: 11921130
DOI: 10.1002/mds.10077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.PMID 11921130Read ↗

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