Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
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.
Almasy
L
L
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX, USA.
Bressman
S B
SB
Raymond
D
D
Kramer
P L
PL
Greene
P E
PE
Heiman
G A
GA
Ford
B
B
Yount
J
J
de Leon
D
D
Chouinard
S
S
Saunders-Pullman
R
R
Brin
M F
MF
Kapoor
R P
RP
Jones
A C
AC
Shen
H
H
Fahn
S
S
Risch
N J
NJ
Nygaard
T G
TG
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002835:Christianity; D002898:Chromosomes, Human, Pair 8; D004422:Dystonia Musculorum Deformans / Q000208:ethnology* / Q000209:etiology / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic
D005819:Genetic Markers