title: The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases.
abstract: We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.
authors.forename: Nee K
authors.initials: NK
authors.lastname: Chew
authors.forename: Pablo
authors.initials: P
authors.lastname: Mir
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Edwards
authors.forename: Carla
authors.initials: C
authors.lastname: Cordivari
authors.forename: Davide
authors.initials: D
authors.lastname: Martino
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Schneider
authors.forename: Hee-Tae
authors.initials: HT
authors.lastname: Kim
authors.forename: Niall P
authors.initials: NP
authors.lastname: Quinn
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001284:Atrophy / Q000150:complications / Q000473:pathology; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000150:complications / Q000175:diagnosis; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003704:Dementia / Q000150:complications / Q000175:diagnosis; D003937:Diagnosis, Differential; D018450:Disease Progression; D004421:Dystonia / Q000150:complications / Q000175:diagnosis; D004569:Electroencephalography; D004576:Electromyography; D005071:Evoked Potentials / Q000502:physiology; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009207:Myoclonus / Q000150:complications / Q000175:diagnosis; D009483:Neuropsychological Tests; D012640:Seizures / Q000150:complications / Q000175:diagnosis; D012720:Severity of Illness Index; D020194:Unverricht-Lundborg Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology