Diagnostic criteria for dystonia in DYT1 families.

Abstract:

:Family studies of primary torsion dystonia have used the diagnostic categories of definite, probable, and possible dystonia for gene mapping and identification, but the validity of this hierarchical classification is not known. The authors assessed 147 DYT1 GAG deletion carriers and 113 blood-related noncarriers from 43 families. Only the category of definite dystonia was 100% specific. Probable dystonia, but not possible, was increased in carriers compared with noncarriers. The authors recommend that only those with definite signs of dystonia be considered affected in linkage and other genetic studies.

journal_name

Neurology

journal_title

Neurology

authors

Bressman SB,Raymond D,Wendt K,Saunders-Pullman R,De Leon D,Fahn S,Ozelius L,Risch N

doi

10.1212/01.wnl.0000035630.12515.e0

subject

Has Abstract

pub_date

2002-12-10 00:00:00

pages

1780-2

issue

11

eissn

0028-3878

issn

1526-632X

journal_volume

59

pub_type

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