Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

Objective The aim of the study was to characterize the clinical features of nine patients in three families with chorea-acanthocytosis (ChAc) sharing the same rare c.2343del mutation in the VPS13A gene. Methods Genetic test results, clinical description, magnetic resonance imaging ( MRI), and electroencephalography ( EEG), as well as laboratory results are summarized. Results ChAc is a rare genetic disorder characterized by hyperkinetic movements, seizures, cognitive decline, neuropsychiatric symptoms, and acanthocytes on peripheral blood smear. This unique cohort of nine patients is characterized by seizures as a first and prominent symptom. In our patients, other features of ChAc appeared later, including tics, other movement disorders, dysarthria, and mild to moderate cognitive decline. Significance Patients with chorea-acanthocytosis carrying the described rare mutation can present with focal, treatment-resistant seizures. [ABSTRACT FROM AUTHOR]