Choreoacanthocytosis

Choreoacanthocytosis (ChAc), also known as chorea-acanthocytosis or Levine-Critchley syndrome, is a rare progressive neurodegenerative disorder belonging to the group of neuroacanthocytosis syndromes. It is caused by mutations in the VPS13A gene (formerly known as CHAC), which encodes the protein chorein. The disease primarily affects the nervous system and blood, and is characterized by the combination of involuntary movements (chorea), acanthocytosis (abnormally shaped red blood cells with spike-like projections), and progressive neurological decline. The hallmark features of choreoacanthocytosis include chorea, orofacial dyskinesias (involuntary movements of the mouth, tongue, and face that can cause self-mutilating lip and tongue biting), dystonia, parkinsonism, and tics. Seizures occur in approximately 40-50% of patients and may be an early presenting feature. Cognitive and behavioral changes, including personality changes, obsessive-compulsive features, and progressive dementia, are common. Peripheral neuropathy with muscle wasting and weakness, particularly in the limbs, is frequently observed. Dysphagia (difficulty swallowing) can lead to significant feeding difficulties. Elevated serum creatine kinase levels and liver enzymes are commonly found on laboratory testing. Acanthocytes are present in peripheral blood smears in most but not all patients. Onset typically occurs in the second to fourth decade of life, with a mean age of onset around 30 years. The disease follows a progressive course over 15-30 years. There is currently no cure or disease-modifying treatment for choreoacanthocytosis. Management is symptomatic and supportive, including medications to manage chorea (such as tetrabenazine), antiepileptic drugs for seizures, botulinum toxin injections for dystonia, and speech and physical therapy. Deep brain stimulation has been explored in some cases for severe movement disorders with variable results. A multidisciplinary approach involving neurologists, psychiatrists, speech therapists, and other specialists is essential for optimal care.

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