Neuroacanthocytosis

Neuroacanthocytosis comprises rare hereditary disorders characterized by movement abnormalities and erythrocyte acanthocytosis. Clinical features include chorea, dystonia, cognitive decline, and psychiatric symptoms. Pathophysiology involves basal ganglia degeneration due to genetic mutations affecting protein metabolism. Diagnosis relies on blood smear, genetic testing, and neuroimaging. Management is symptomatic with movement disorder therapy and supportive care; prognosis is progressive with reduced lifespan.