Rapid-onset dystonia-parkinsonism
Apathy
Depression
DOI:
10.1212/wnl.55.7.991
Publication Date:
2012-05-13T13:48:59Z
AUTHORS (10)
ABSTRACT
<b><i>Background:</i></b> Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder linked to chromosome 19q13 that characterized by sudden onset of primarily bulbar and upper limb dystonia with parkinsonism. <b><i>Methods:</i></b> The authors evaluated 12 individuals from three generations Irish family obtained detailed medical records on a deceased member. describe the clinical, psychiatric, genetic features affected individuals. <b><i>Results:</i></b> Five eight members developed sudden-onset (several hours days) postural instability. Four five also had symptoms. Two have stable focal or segmental dystonia. One has intermittent hemidystonia dysarthria comes abruptly in times stress anxiety. Three history profound difficulty socializing, at presentation two depression. patients trial dopamine agonists without benefit. Genetic analysis suggests linkage 19 lod score 2.1 zero recombination. <b><i>Conclusion:</i></b> This third reported rapid-onset dystonia-parkinsonism. Psychiatric morbidity appeared common this may be part RDP phenotype.
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