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A novel family with an unusual early-onset generalized dystonia

✍ Scribed by Giovanni Fabbrini; Francesco Brancati; Laura Vacca; Enza Maria Valente; Andrea Nemeth; Angela Meesaq; Nuala Sykes; Bruno Dallapiccola; Alfredo Berardelli

Book ID
102503992
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
80 KB
Volume
20
Category
Article
ISSN
0885-3185

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✦ Synopsis

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. © 2004 Movement Disorder Society

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