Human Molecular Genetics, Vol 5, 1673-1677, Copyright © 1996 by Oxford University Press
B Leube, D Rudnicki, T Ratzlaff, KR Kessler, R Benecke and G 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.
ARTICLES
Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
Department of Neurology, University Hospital, Dusseldorf, Germany.
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