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AI InsightIn this article, a 38-year-old male case featuring both common and rare clinical reflections of neuroacanthocytosis is presented.
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Abstract
Neuroacanthocytosis is a neurodegenerative disease characterized by movement disorders, seizures, dementia, and behavioral changes, as well as spiked acanthocytes in peripheral smears, but it is rarely accompanied by axonal neuropathy. Before making a definitive diagnosis of neuroacanthocytosis, diseases like Huntington disease, Parkinson disease, Tourette syndrome, and Wilson disease should first be considered. Diagnosis is essentially based on the clinical picture and the presence of acanthocytes in peripheral blood. Its treatment is symptomatic, and therefore treatment measures may vary from case to case. Drugs such as anticholinergics, antipsychotics, and antiepileptics are typically used for the treatment of the symptoms. Chorea-acanthocytosis is an autosomal recessive, progressive disease, for which the neurological symptoms start in the 20s. The onset symptoms are generally mild cognitive or psychiatric disorders and these complaints are observed before the neurological findings appear. In some patients, epileptic seizures may occur before the movement disorders. In this article, a 38-year-old male case featuring both common and rare clinical reflections of neuroacanthocytosis is presented.