title: The motor disorder of classic Lesch-Nyhan disease.
abstract: Reports describing the neurological features of Lesch-Nyhan disease (LND) vary widely, thereby implying the involvement of different neurological substrates. The movement abnormalities in 20 patients with LND were investigated. Dystonia was the most frequent and severe movement disorder. At rest, hypotonia was more frequent than hypertonia. These findings are compatible with basal ganglia dysfunction in LND.
authors.affiliation: Department Neurology, University Hospital St. Radboud, Nijmegen, The Netherlands.
authors.forename: Jasper E
authors.initials: JE
authors.lastname: Visser
authors.forename: James C
authors.initials: JC
authors.lastname: Harris
authors.forename: Gabor
authors.initials: G
authors.lastname: Barabas
authors.forename: Gary E
authors.initials: GE
authors.lastname: Eddey
authors.forename: H A
authors.initials: HA
authors.lastname: Jinnah
mesh_terms: D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000473:pathology*; D009123:Muscle Hypotonia / Q000175:diagnosis; D019636:Neurodegenerative Diseases / Q000175:diagnosis* / Q000473:pathology; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000473:pathology