title: Inherited and de novo mutations in sporadic cases of DYT1-dystonia.
abstract: A study of Danish probands with primary torsion dystonia is presented. The probands were examined clinically and biochemically to exclude secondary dystonia. Mutation analyses for the GAG-deletion in the DYT1 gene were performed on 107 probands; and the mutation was detected in three. All three probands had the classical phenotype of DYT1-dystonia, but only one had a family history of dystonia. The other two probands had, obviously, sporadic DYT1-dystonia, one of which was caused by a de novo mutation, while the other one had a parent being an asymptomatic carrier. De novo mutations in the DYT1 gene are seldom reported although independent founder mutations are known to have occurred. The frequency of DYT1-dystonia was low in our study even though several probands had early onset generalised dystonia. None of the probands in our study with other types of dystonia had the GAG-deletion as reported in other studies. The difficulties in genetic counselling concerning the heterogeneity of dystonia exemplified by DYT1-dystonia are outlined.
authors.affiliation: Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Lena Elisabeth
authors.initials: LE
authors.lastname: Hjermind
authors.forename: Lene Moria
authors.initials: LM
authors.lastname: Werdelin
authors.forename: Sven Asger
authors.initials: SA
authors.lastname: Sørensen
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003718:Denmark; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018832:Molecular Chaperones; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human