Choreoacanthocytosis (ChAc) is an uncommon neurodegenerative disorder characterized by seizures, progressive movement disorder, cognitive and behavior changes, myopathy that can be subclinical, and chronic hyperCKemia in serum. Onset is typically between 20 and 40 years of age, although ChAc can develop as early as the first decade or as late as the seventh decade. 500 to 1,000 cases of ChAc has been reported worldwide.
The diagnosis of ChAc is based on clinical findings, characteristic MRI findings, and evidence of muscle disease. There are currently no treatment options to prevent or slow the progression of ChAc. Management is purely symptomatic and supportive.
Choreoacanthocytosis (ChAc) is caused by mutations in the VSP13A gene, which results in the synthesis of an abnormally small and nonfunctional version of a protein called chorein. The function of this protein in the body is unknown. It may play a role in the movement of proteins within cells.
Bohlega et al. (1998) reported a 30-year-old Bedouin Saudi woman with choreoacanthocytosis and aprebetalipoproteinemia. She was born to first cousin parents. She had a sister who died at the age of 38 from a similar disease that she had for five years. The patient presented with seizures, buccolingual dyskinesias, orofacial tics, choreiform movements, atrophy, and areflexia. She had intermittent and frequent oral, facial, and neck movements with teeth grinding, abnormal slow movement of the soft palate, and frequent vocalizing tics. Her speech was irregular and slurred. All her distal muscles were atrophied and weak. She experienced improvement in her drooling and movements after she was treated with tetrabenazine, trihexyphenidyl, amitriptyline, and phenytoin.
Larbi et al. (2011) reported a 37-year-old woman who was admitted for an orofacial choreatic movement disorder. These movements were associated to dysarthria, lip and tongue mutilation, areflexia, and raised plasma creatine kinase level. Examination of blood smear revealed 10% of acanthocytosis. Neuro-acanthocytosis diagnosis, precisely confirmed the presence of choreaacanthocytosis in the reported patient.