title: Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.
abstract: The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern Italy) with 6 definitely affected individuals who display an unusually large phenotypic range of dystonic symptoms. We excluded the GAG deletion in the DYT1 gene and linkage to any of the above-mentioned dystonia loci, thus suggesting an as yet undefined dystonia gene in our family.
authors.affiliation: Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston 02129, USA.
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: P P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: C C
authors.initials: CC
authors.lastname: Castellan
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: P L
authors.initials: PL
authors.lastname: Kramer
authors.forename: L J
authors.initials: LJ
authors.lastname: Ozelius
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D004252:DNA Mutational Analysis; D004422:Dystonia Musculorum Deformans / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007558:Italy; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D005819:Genetic Markers