TY - JOUR
T1 - Human gene for torsion dystonia located on chromosome 9q32-q34
AU - Ozelius, Laurie
AU - Kramer, Patricia L.
AU - Moskowitz, Carol B.
AU - Kwiatkowski, David J.
AU - Brin, Mitchell F.
AU - Bressman, Susan B.
AU - Schuback, Deborah E.
AU - Falk, Catherine T.
AU - Risch, Neil
AU - de Leon, Deborah
AU - Burke, Robert E.
AU - Haines, Jonathan
AU - Gusella, James F.
AU - Fahn, Stanley
AU - Breakefield, Xandra O.
N1 - Funding Information:
This work was supported by the Dystonia Medical Research Foundation (X. 0. B., j. F. C., P L. K., and 5. F.), the Henry J. Kaiser Family Foundation (X. 0. B.), the Jim Pattison Foundation (X. 0. B.), and NIH grants NS26656 (S. F.), NS20012 (1. F. C.), HL01582 (D. j. K.), GM29177 (C. T. F.), and N500746 (R. E. B.). The authors thank Ms. Suzanne McDavitt for skilled preparation of this manuscript; Ms. Wendy Hobbs and Heather MacFarlane for establishment of lymphoblast lines; Ms. Carmela Castiglione and Dr. Cuang Hu for help with experiments; Drs. Hope Northrup and Arthur Beaudet for supplying us with RFLP probes for the ASS locus; Dr. Yusuke Nakamura for supplying us with the VNTR probes MCT136 and EKZ19.3: Drs. Jean Amos and Philip Green for sharing information on 9q probes and maps; members of the affected family for generously sharing their time and informatior and for donating blood samples for study; and the Belzberg family for their unfailing loyalty, confidence, and support.
PY - 1989/5
Y1 - 1989/5
N2 - 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-β-hydroxylase.
AB - 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-β-hydroxylase.
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U2 - 10.1016/0896-6273(89)90188-8
DO - 10.1016/0896-6273(89)90188-8
M3 - Article
C2 - 2576373
AN - SCOPUS:0024657745
SN - 0896-6273
VL - 2
SP - 1427
EP - 1434
JO - Neuron
JF - Neuron
IS - 5
ER -