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

Authors

  • Nee K. Chew MBBS,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
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  • Pablo Mir MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
    2. Servicio de Neurología, Hospital Universitario Virgen del Rocío, Seville, Spain
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  • Mark J. Edwards PhD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
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  • Carla Cordivari MD,

    1. National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
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  • Davide Martino MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
    2. Department of Neurological and Psychiatric Sciences, University of Bari, Italy
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  • Susanne A. Schneider MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
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  • Hee-Tae Kim MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
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  • Niall P. Quinn MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
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  • Kailash P. Bhatia MD

    Corresponding author
    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
    • Sobell Department, Institute of Neurology, UCL, Queen Square, London, WC1N 3BG, UK
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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. © 2007 Movement Disorder Society

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