A novel family with an unusual early-onset generalized dystonia

Giovanni Fabbrini, Francesco Brancati, Laura Vacca, Enza Maria Valente, Andrea Nemeth, Angela Meesaq, Nuala Sykes, Bruno Dallapiccola, Alfredo Berardelli

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)81-86
Number of pages6
JournalMovement Disorders
Volume20
Issue number1
DOIs
Publication statusPublished - Jan 2005

Keywords

  • Dystonia
  • DYT12
  • Lubag
  • Parkin
  • Parkinsonism

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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