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  • Title: Psychiatric symptoms in a woman with chorea-acanthocytosis.
    Author: Del Valle-López P, Cañas-Cañas MT, Cámara-Barrio S.
    Journal: Actas Esp Psiquiatr; 2013; 41(2):133-6. PubMed ID: 23592074.
    Abstract:
    UNLABELLED: Chorea-acanthocytosis is an uncommon neurodegenerative disorder, usually with a low rate of progression. It is characterized by Huntington disease-like involuntary movements, cognitive decline, behavioral changes, seizures and polyneuropathy. Chorea-acanthocytosis belongs to the group of neuroacanthocytosis syndromes, a group of genetically defined diseases associated with progressive degeneration of the basal ganglia and peripheral red blood cell acanthocytes. The onset of the disease is variable in its manifestations and psychiatric symptoms may dominate the clinical picture. CASE REPORT: A 48-year-old woman with a history of seizures since age 35 developed behavioral and affective changes that led to her referral to our mental health unit. She had an unsteady gait, motor clumsiness, emotional instability and impulsivity. Personality changes related with medical illness were diagnosed despite a normal neurological survey. Subsequent development of choreic involuntary movements, evidence of striatal atrophy on MRI and detection of acanthocytes in a peripheral blood smear allowed diagnosis. The role of the basal ganglia in psychiatric manifestations and the pathophysiology of chorea-acanthocytosis are discussed.
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