title: A novel family with an unusual early-onset generalized dystonia.
abstract: We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs. Genetic testing excluded the rapid-onset dystonia-parkinsonism locus (DYT12; OMIM*128235), autosomal recessive Parkin locus (PARK2; OMIM *602544), and DYT1 dystonia. Three affected siblings were found to share an identical haplotype at the X-linked dystonia-parkinsonism locus (XDP; Lubag; OMIM*314250). This haplotype differed from the haplotype observed in Filipino patients, ruling out the hypothesis of a common underlying mutation. In addition, direct sequencing analysis of the putative disease causing changes observed in Filipino patients were not found in the Italian patients. The condition we describe could be a newly recognized dystonia syndrome with parkinsonism.
authors.affiliation: Department of Neurological Sciences, University La Sapienza, Rome, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Fabbrini
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Laura
authors.initials: L
authors.lastname: Vacca
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Andrea
authors.initials: A
authors.lastname: Nemeth
authors.forename: Angela
authors.initials: A
authors.lastname: Meesaq
authors.forename: Nuala
authors.initials: N
authors.lastname: Sykes
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Alfredo
authors.initials: A
authors.lastname: Berardelli
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004421:Dystonia / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods