A novel family with an unusual early-onset generalized dystonia

Movement Disorders : Official Journal of the Movement Disorder Society
Giovanni FabbriniAlfredo Berardelli

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.

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Citations

Jul 26, 2011·Journal of Veterinary Internal Medicine·A E VanhaesebrouckN Granger
Mar 19, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Marialuisa QuadriVincenzo Bonifati
May 6, 2006·American Journal of Health-system Pharmacy : AJHP : Official Journal of the American Society of Health-System Pharmacists·Jack J Chen, Anh-Vuong Ly

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