The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases

Title

The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases

Creator

Chew NK; Mir P; Edwards MJ; Cordivari C; Martino D; Schneider SA; Kim HT; Quinn NP; Bhatia KP

Identifier

Publisher

Movement Disorders: Official Journal Of The Movement Disorder Society

Date

2008

Subject

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

Description

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

Rights

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

Journal Article

Citation List Month

Backlog

Pages

107-113

Issue

1

Volume

23

Citation

Chew NK; Mir P; Edwards MJ; Cordivari C; Martino D; Schneider SA; Kim HT; Quinn NP; Bhatia KP, “The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases,” Pediatric Palliative Care Library, accessed August 4, 2021, https://pedpalascnetlibrary.omeka.net/items/show/14452.

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