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Article

The DYT1 phenotype and guidelines for diagnostic testing.

Neurology - 9 May 2000

Bressman S B, Sabatti C, Raymond D, de Leon D, Klein C, Kramer P L, Brin M F, Fahn S, Breakefield X, Ozelius L J, Risch N J

Abstract excerpt

OBJECTIVE: To develop diagnostic testing guidelines for the DYT1 GAG deletion in the Ashkenazi Jewish (AJ) and non-Jewish (NJ) primary torsion dystonia (PTD) populations and to determine the range of dystonic features in affected DYT1 deletion carriers. METHODS: The authors screened 267 individuals with PTD; 170 were clinically ascertained for diagnosis and treatment, 87 were affected family members ascertained...

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Source

Identifiers

PMID: 10802779
DOI: 10.1212/wnl.54.9.1746

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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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