The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases
Identifieur interne : 003663 ( Main/Merge ); précédent : 003662; suivant : 003664The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases
Auteurs : Nee K. Chew [Royaume-Uni] ; Pablo Mir [Royaume-Uni, Espagne] ; Mark J. Edwards [Royaume-Uni] ; Carla Cordivari [Royaume-Uni] ; Davide Martino [Royaume-Uni, Italie] ; Susanne A. Schneider [Royaume-Uni] ; Hee-Tae Kim [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2008.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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.
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases</title>
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<author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name>
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<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term>
<term>Myoclonus</term>
<term>Nervous system diseases</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Myoclonie</term>
<term>Pathologie du système nerveux</term>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
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