title: Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
abstract: Thirty Italian patients with sporadic, early-onset, primary dystonia were screened for the DYT1 mutation. Five patients were positive (mean age at onset, 8 years); two had the typical phenotype, two a generalised dystonia also involving the cranial muscles, and one a segmental dystonia. In the other 25 patients (mean age at onset, 7.7 years), dystonia was generalised in 22 patients and remained segmental in three. Our results indicate the role of DYT1 mutation in Italian patients and confirm clinical and genetic heterogeneity of early-onset primary dystonia.
authors.affiliation: Department of Child Neurology, National Neurological Institute C. Besta, Milan, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zorzi
authors.forename: Barbara
authors.initials: B
authors.lastname: Garavaglia
authors.forename: Federica
authors.initials: F
authors.lastname: Invernizzi
authors.forename: Floriano
authors.initials: F
authors.lastname: Girotti
authors.forename: Paola
authors.initials: P
authors.lastname: Soliveri
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
authors.forename: Lucia
authors.initials: L
authors.lastname: Angelini
authors.forename: Nardo
authors.initials: N
authors.lastname: Nardocci
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005828:Genetics, Population; D006801:Humans; D007558:Italy; D008297:Male; D018832:Molecular Chaperones; D009154:Mutation / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human