Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34

Idiopathic torsion dystonia (ITD) is characterized by sustained, involuntary muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. Most familial forms of ITD display autosomal dominant inheritance with reduced penetrance. Linkage analysis has been previously...

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Bibliographic Details
Published in:American journal of human genetics 1991-08, Vol.49 (2), p.366-371
Main Authors: KWIATKOWSKI, D. J, OZELIUS, L, KRAMER, P. L, PERMAN, S, SCHUBACK, D. E, GUSELLA, J. F, FAHN, S, BREAKEFIELD, X. O
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
chromosome 9
Chromosome Banding
Chromosomes, Human, Pair 9
DNA - blood
DNA - genetics
DNA - isolation & purification
Dystonia Musculorum Deformans - blood
Dystonia Musculorum Deformans - genetics
Gene Frequency
genes
Genetic Linkage
Genetic Markers
Humans
Jews - genetics
Medical sciences
Molecular Sequence Data
Nervous system (semeiology, syndromes)
Nervous system as a whole
Neurology
Oligonucleotide Probes
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Summary:Idiopathic torsion dystonia (ITD) is characterized by sustained, involuntary muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. Most familial forms of ITD display autosomal dominant inheritance with reduced penetrance. Linkage analysis has been previously used to localize a dystonia gene to the 9q32-34 region in a large non-Jewish family and in a group of Ashkenazi Jewish families. Utilizing GT repeat polymorphisms from this region, here we demonstrate that the gene causing dystonia in Ashkenazi Jews can be localized to the 11-cM interval between AK1 and D9S10. Linkage analysis in the non-Jewish family is also consistent with occurrence of the gene in this region, although positive lod scores extend over a greater than 20-cM interval in that family. These results set the stage for positional cloning of the dystonia gene. Currently there are no known candidate genes in this region.
ISSN:0002-9297
1537-6605