title: Dystonia as a presenting sign of spinocerebellar ataxia type 1.
abstract: We report on a 39-year-old man who presented initially with marked blepharospasm, oromandibular dystonia and retrocollis and one year later developed mild ataxia. Our findings suggest that dystonia can be a disabling presenting sign of SCA1 and support the clinical heterogeneity of SCA1, highlighting the importance of considering this entity in patients combining dystonia and cerebellar ataxia.
authors.affiliation: Second Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang-Gung University, Taipei, Taiwan.
authors.forename: Yih-Ru
authors.initials: YR
authors.lastname: Wu
authors.forename: Guey-Jen
authors.initials: GJ
authors.lastname: Lee-Chen
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
authors.forename: Chiung-Mei
authors.initials: CM
authors.lastname: Chen
authors.forename: Hsuan-Yuan
authors.initials: HY
authors.lastname: Lin
authors.forename: Sien-Tsong
authors.initials: ST
authors.lastname: Chen
mesh_terms: D000328:Adult; D001764:Blepharospasm / Q000175:diagnosis; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D004421:Dystonia / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D012438:Saccades / Q000502:physiology; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D014743:Videotape Recording