caa a22 4500 39757441X CHVBK 20180308164851.0 cr unu---uuuuu 161202e199610 xx s 000 0 eng 10.1093/hmg/5.10.1673 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.10.1673 Idiopathic Torsion Dystonia: Assignment of a Gene to Chromosome 18p in a German Family With Adult Onset, Autosomal Dominant Inheritance and Purely Focal Distribution [Elektronische Daten] [Barbara Leube, Doda Rudnicki, Tim Ratzlaff, Kirn R. Kessler, Reiner Benecke, Georg Auburger] Idiopathic torsion dystonia (ITD) is a group of movement disorders which is usually inherited in an autosomal dominant manner with reduced penetrance. Most patients with ITD present with focal dystonia at adult age. However, thus far, this common subform remained unmapped chromosomally. In contrast, a rare early onset, more generalized form of ITD has been mapped to chromosome 9q34. Our linkage study in a large pedigree with seven definitely affected, six possibly affected and 16 phenotypically unaffected family members assigns an ITD gene for the common focal form with a maximal lod score of 3.17 to the region telomeric of D18S1153 on chromosome 18p. © 1996 Oxford University Press Leube Barbara Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut Rudnicki Doda Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut Ratzlaff Tim Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut Kessler Kirn R. Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut Benecke Reiner Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut Auburger Georg Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut Human Molecular Genetics Oxford University Press 5/10(1996-10), 1673-1677 0964-6906 5:10<1673 1996 5 hmg https://doi.org/10.1093/hmg/5.10.1673 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.10.1673 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Leube Barbara Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut NATIONALLICENCE 700 1- Rudnicki Doda Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut NATIONALLICENCE 700 1- Ratzlaff Tim Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut NATIONALLICENCE 700 1- Kessler Kirn R. Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut NATIONALLICENCE 700 1- Benecke Reiner Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut NATIONALLICENCE 700 1- Auburger Georg Department of Neurology, University Hospital, PO Box 101007, 40001 Düsseldorf, Germany aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/10(1996-10), 1673-1677 0964-6906 5:10<1673 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford