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Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families
Author(s) -
Almasy L.,
Bressman S. B.,
Raymond D.,
Kramer P. L.,
Greene P. E.,
Heiman G. A.,
Ford B.,
Yount J.,
De Leon D.,
Chouinard S.,
SaundersPullman R.,
Brin M. F.,
Kapoor R. P.,
Jones A. C.,
Shen H.,
Fahn S.,
Risch N. J.,
Nygaard T. G.
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410420421
Subject(s) - locus (genetics) , dystonia , genetics , haplotype , genetic linkage , medicine , biology , gene , psychiatry , allele
The DYT1 locus on chromosome 9q34 is responsible for most childhood limb‐onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult‐onset, and predominantly cranial–cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial–cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40−cM segregates with ITD in these families, suggesting a shared mutation from the recent past.