Rapid-onset dystonia-parkinsonism - A clinical and genetic analysis of a new kindred

Background: Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominan t disorder linked to chromosome 19q13 that is characterized by sudden onset of primarily bulbar and upper limb dystonia with parkinsonism. Methods: Th e authors evaluated 12 individuals from three generations of an Irish famil y and obtained detailed medical records on a deceased member. The authors d escribe the clinical, psychiatric, and genetic features of the affected ind ividuals. Results: Five of eight affected members developed sudden-onset (s everal hours to days) dystonia with postural instability. Four of the five also had bulbar symptoms. Two have stable focal or segmental limb dystonia. One has intermittent hemidystonia with dysarthria that comes on abruptly i n times of stress or anxiety. Three had a history of profound difficulty so cializing, and at presentation two developed depression. Three patients had a trial of dopamine agonists without benefit. Genetic analysis suggests li nkage to chromosome 19 with lod score of 2.1 at zero recombination. Conclus ion: This is the third reported family with chromosome 19q13 rapid-onset dy stonia-parkinsonism. Psychiatric morbidity appeared common in affected memb ers of this family and may be part of the RDP phenotype.