Medline ® Abstract for Reference 43
of 'Classification and evaluation of dystonia'
43
TI
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
AU
Almasy L, Bressman SB, Raymond D, Kramer PL, Greene PE, Heiman GA, Ford B, Yount J, de Leon D, Chouinard S, Saunders-Pullman R, Brin MF, Kapoor RP, Jones AC, Shen H, Fahn S, Risch NJ, Nygaard TG
SO
Ann Neurol. 1997;42(4):670.
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.
AD
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX, USA.
PMID