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Text
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URL Address
<a href="http://doi.org/10.1002/mds.21812" target="_blank" rel="noreferrer">http://doi.org/10.1002/mds.21812</a>
Dublin Core
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Title
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The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases
Publisher
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Movement Disorders: Official Journal Of The Movement Disorder Society
Date
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2008
Subject
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Child; Female; Humans; Male; Adult; Disease Progression; Age Factors; Severity of Illness Index; Magnetic Resonance Imaging; adolescent; Q3 Literature Search; Diagnosis; Differential; Chromosomes; Human; Electroencephalography; Atrophy/complications/pathology; Auditory; Brain Stem/physiology; Brain/pathology/physiopathology; Cerebellar Ataxia/complications/diagnosis; Cerebellum/pathology/physiopathology; Dementia/complications/diagnosis; Dystonia/complications/diagnosis; Electromyography; Evoked Potentials; Evoked Potentials/physiology; Myoclonus/complications/diagnosis; Neuropsychological Tests; Pair 21/genetics; Seizures/complications/diagnosis; Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
Creator
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Chew NK; Mir P; Edwards MJ; Cordivari C; Martino D; Schneider SA; Kim HT; Quinn NP; Bhatia KP
Description
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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.
2008
Identifier
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<a href="http://doi.org/10.1002/mds.21812" target="_blank" rel="noreferrer">10.1002/mds.21812</a>
Rights
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2008
Adolescent
Adult
Age Factors
Atrophy/complications/pathology
Auditory
Backlog
Bhatia KP
Brain Stem/physiology
Brain/pathology/physiopathology
Cerebellar Ataxia/complications/diagnosis
Cerebellum/pathology/physiopathology
Chew NK
Child
Chromosomes
Cordivari C
Dementia/complications/diagnosis
Diagnosis
Differential
Disease Progression
Dystonia/complications/diagnosis
Edwards MJ
Electroencephalography
Electromyography
Evoked Potentials
Evoked Potentials/physiology
Female
Human
Humans
Journal Article
Kim HT
Magnetic Resonance Imaging
Male
Martino D
Mir P
Movement Disorders: Official Journal Of The Movement Disorder Society
Myoclonus/complications/diagnosis
Neuropsychological Tests
Pair 21/genetics
Q3 Scoping Review Results
Quinn NP
Schneider SA
Seizures/complications/diagnosis
Severity Of Illness Index
Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology