Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene

Authors

  • Pablo Mir MD,

    1. Sobell Department of Movement 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 MB,

    1. Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
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  • Andrew R.J. Curtis MSc,

    1. Institute of Human Genetics, The International Centre for Life, Central Parkway, Newcastle-upon-Tyne, United Kingdom
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  • Kailash P. Bhatia MD,

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

    Corresponding author
    1. Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
    • Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom
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Abstract

Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3. We present the clinical details of a patient with adult-onset generalized dystonia associated with this mutation. Neuroferritinopathy appears to be a rare disorder; hence, there is a need to report new cases to further our understanding of the clinical phenotype, diagnostic challenges, the course of the condition and imaging characteristics. © 2004 Movement Disorder Society

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