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Keywords:

  • chorea-acanthocytosis;
  • chorein;
  • frontal dementia;
  • motor neuron disease;
  • neurophysiology

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