Exclusion of the DYT1 locus in familial torticollis.
Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb-onset disease. The genetic basis of adult-onset ITD is less well studied. In most multiplex adult-onset ITD families, dystonia is limited to the cervical, cranial, or brachial muscles; in a few rare families, dystonia also involves the legs and trunk. Previous linkage studies have excluded the DYT1 locus in these atypical families. We studied two large non-Jewish families with adult-onset ITD limited to the cervical and brachial muscles and excluded the DYT1-containing region. This study further restricts the role of DYT1 to childhood limb-onset ITD and suggests that other genes are responsible for focal adult-onset ITD.
Bressman
S B
SB
Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY, USA.
Warner
T T
TT
Almasy
L
L
Uitti
R J
RJ
Greene
P E
PE
Heiman
G A
GA
Raymond
D
D
Ford
B
B
de Leon
D
D
Fahn
S
S
Kramer
P L
PL
Risch
N J
NJ
Maraganore
D M
DM
Nygaard
T G
TG
Harding
A E
AE
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002899:Chromosomes, Human, Pair 9; D004422:Dystonia Musculorum Deformans / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D010375:Pedigree; D011110:Polymorphism, Genetic; D014103:Torticollis / Q000235:genetics*