Human gene for torsion dystonia located on chromosome 9q32-q34.
Torsion dystonia is a movement disorder of unknown etiology characterized by loss of control of voluntary movements appearing as sustained muscle contractions and/or abnormal postures. Dystonic movements can be caused by lesions in the basal ganglia, drugs, or gene defects. Several hereditary forms have been described, most of which have autosomal dominant transmission with variable expressivity. In the Ashkenazi Jewish population the defective gene frequency is about 1/10,000. Here, linkage analysis using polymorphic DNA and protein markers has been used to locate a gene responsible for susceptibility to dystonia in a large, non-Jewish kinship. Affected members of this family have a clinical syndrome similar to that found in the Jewish population. This dystonia gene (ITD1) shows tight linkage with the gene encoding gelsolin, an actin binding protein, and appears by multipoint linkage analysis to lie in the q32-q34 region of chromosome 9 between ABO and D9S26, a region that also contains the locus for dopamine-beta-hydroxylase.
Ozelius
L
L
Molecular Neurogenetics Laboratory (Neurology), Massachusetts General Hospital, Boston 02114.
Kramer
P L
PL
Moskowitz
C B
CB
Kwiatkowski
D J
DJ
Brin
M F
MF
Bressman
S B
SB
Schuback
D E
DE
Falk
C T
CT
Risch
N
N
de Leon
D
D
D002135:Calcium-Binding Proteins / Q000235:genetics; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D015342:DNA Probes; D004299:Dopamine beta-Hydroxylase / Q000235:genetics; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D018260:Gelsolin; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D002135:Calcium-Binding Proteins; D015342:DNA Probes; D018260:Gelsolin; D005819:Genetic Markers; D008840:Microfilament Proteins; D004299:Dopamine beta-Hydroxylase