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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.

Original publication

DOI

10.1002/mds.20267

Type

Journal article

Journal

Mov Disord

Publication Date

01/2005

Volume

20

Pages

81 - 86

Keywords

Adult, Aged, Aged, 80 and over, Dystonia, Family Health, Female, Haplotypes, Humans, Italy, Male, Parkinson Disease, Sequence Analysis, DNA