Diagnostic criteria for dystonia in DYT1 families.
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.
Bressman
S B
SB
Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA. sbressman@bethisraelny.org
Raymond
D
D
Wendt
K
K
Saunders-Pullman
R
R
De Leon
D
D
Fahn
S
S
Ozelius
L
L
Risch
N
N
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004421:Dystonia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007585:Jews; D016013:Likelihood Functions; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones; D009460:Neurologic Examination; D011237:Predictive Value of Tests
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human