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
Neurologyjournal_title
Neurologyauthors
Bressman SB,Raymond D,Wendt K,Saunders-Pullman R,De Leon D,Fahn S,Ozelius L,Risch Ndoi
10.1212/01.wnl.0000035630.12515.e0subject
Has Abstractpub_date
2002-12-10 00:00:00pages
1780-2issue
11eissn
0028-3878issn
1526-632Xjournal_volume
59pub_type
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