title: An unusual family with multiple movement disorders.
abstract: Multiple movement disorders presenting in the same family are rare. We present an unusual family where generalized dystonia, Huntington's disease, progressive supranuclear palsy and secondary paroxysmal dyskinesia co-exist. The index case presented with young-onset dystonia and tested negative for the DYT1 gene deletion. Her father was similarly affected. The father's brother (paternal uncle of the index) also had abnormal movements-a mixture of chorea and dystonia-and tested positive for the HD expansion. His son had secondary paroxysmal dyskinesia, and tested negative for the HD expansion. The index case and her father were also negative for the HD expansion. A paternal aunt of two of the cases had a clinical diagnosis of progressive supranuclear palsy. Dystonia is known to be a genetically heterogeneous condition. The co-existence of inherited generalized dystonia with other movement disorders may provide clues to its genetic localization.
authors.affiliation: Sobell Department of Motor Neuroscience & Movement Disorders, Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
authors.forename: Mark
authors.initials: M
authors.lastname: Edwards
authors.forename: Noemi
authors.initials: N
authors.lastname: Russo
authors.forename: Beatrice
authors.initials: B
authors.lastname: Summers
authors.forename: Jenny
authors.initials: J
authors.lastname: Morton
authors.forename: Deirdre
authors.initials: D
authors.lastname: Peake
authors.forename: Kailash
authors.initials: K
authors.lastname: Bhatia
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree