Chorea-acanthocytosis presenting as motor neuron disease

Authors

  • Dulce Neutel MD,

    1. Department of Neurosciences, Centro Hospitalar Lisboa Norte, Hospital Santa Maria, Avenida Professor Egas Moniz, 1648-028 Lisboa, Portugal
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  • Gabriel Miltenberger-Miltenyi MD,

    1. Laboratório de Diagnóstico de Medicina Molecular (GenoMed), Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal
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  • Ines Silva BSc,

    1. Laboratório de Diagnóstico de Medicina Molecular (GenoMed), Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal
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  • Mamede de Carvalho MD

    Corresponding author
    1. Department of Neurosciences, Centro Hospitalar Lisboa Norte, Hospital Santa Maria, Avenida Professor Egas Moniz, 1648-028 Lisboa, Portugal
    2. Neuromuscular Unit, Instituto de Medicina Molecular, Institute of Physiology, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal
    • Department of Neurosciences, Centro Hospitalar Lisboa Norte, Hospital Santa Maria, Avenida Professor Egas Moniz, 1648-028 Lisboa, Portugal
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Abstract

Introduction: Chorea-acanthocytosis (ChAc) is a rare autosomal recessive disease characterized by involuntary movements, seizures, cognitive changes, myopathy, and axonal neuropathy. Methods: We report a patient who presented with gait impairment and dysarthria. Clinical and neurophysiological assessment disclosed upper and lower motor neuron signs suggestive of motor neuron disease (MND). Results: Later observation of involuntary movements prompted further investigation. Acanthocytes were identified, and the patient's chorein level was low. Genetic studies identified a novel double heterozygous mutation of the chorein gene involving an exon-stop mutation associated with another mutation that can affect the normal splicing of the RNA. Conclusions: We speculate that this genetic mutation could cause the atypical presentation. ChAc should be included in the differential diagnosis of atypical MND. Muscle Nerve, 2012

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