Objective: –

Background: Chorea-acanthocytosis (ChAc) is an autosomal recessive disorder associated with mutations or deletions in the VPS13A gene on chromosome 9q21, which codes for the membrane

protein chorein. Neurobehavioral symptoms may precede the onset of frank neurological disturbances. Herein, we reported a case of ChAc with binge-eating as the initial clinical presentation.

Method: A 28-year-old male initially presented with 2 years history of binge-eating especially at night. He was eating an unusually large amount of food, in a short period of time and

seems unstoppable at times. At age of 32, he developed generalised involuntary random limbs and perioral movement, followed by dysarthria, dysphagia, anxiety and seizure. He sustained multiple tongue and lip biting; tongue protrusion especially during eating resulted in severe weight loss. He had recurrent admission for aspiration pneumonia. There is no family history or substance abuse. He was from a consanguineous marriage. Physical examination revealed generalised chorea, feeding dystonia, head drops, self-mutilation, orofaciolingual dyskinesia, dysarthria, involuntary vocalization, drooling, truncal instability and areflexia. Mini-Mental State Examination score was 20/30. Full blood picture revealed 35% acanthocytes and creatine kinase level was 3842u/l. Brain magnetic resonance imaging showed bilateral atrophy of the caudate nucleus. Nerve conduction study revealed

symmetrical axonal sensori-motor polyneuropathy. Western blot analysis showed absent chorein expression in erythrocytes, confirming the diagnosis of ChAc. VPS13A gene testing was not performed due to financial constraint. He was treated with levetiracetam, tetrabenazine and botulinum toxin injection of genioglossus which provided minimal clinical improvement.

Results: Neuropsychiatric manifestations including impulsive behaviour and anxiety often precede movement disorders in ChAc; which pose challenges in making a definitive early diagnosis.

Important clues for diagnosis include autosomal recessive inheritance, peripheral neuropathy, seizures and acanthocytes in peripheral blood film. Caudate nucleus has been implicated strongly as a key structure in the neurobiology of obsessive-compulsive behaviour.

Conclusion: Binge-eating can precede the choreiform movement and feeding dystonia in ChAc. Recognition of this impulsive behaviour is crucial in making an early diagnosis of ChAc.

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Malandrini A, Fabrizi GM, et al: A conserved sortingassociated protein is mutant in chorea-
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2. Walterfang, M., Evans, A., Looi, J. C., Jung, H. H., Danek, A., Walker, R. H., & Velakoulis, D. (2011).
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3. Walterfang, M., Yucel, M., Walker, R., Evans, A., Bader, B., Ng, A., Danek, A., Mocellin, R., &
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MDS Abstracts - https://www.mdsabstracts.org/abstract/binge-eating-as-an-initial-presentation-for-the-diagnosis-of-chorea-acanthocytosis/