Seizures as presenting and prominent symptom in Chorea-Acanthocytosis with c.2343del VPS13A gene mutation
Abstract number :
1.155
Submission category :
4. Clinical Epilepsy / 4A. Classification and Syndromes
Year :
2016
Submission ID :
189203
Source :
www.aesnet.org
Presentation date :
12/3/2016 12:00:00 AM
Published date :
Nov 21, 2016, 18:00 PM
Authors :
Felix Benninger, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel; Zaid Afawi, Tel Aviv University, Tel Aviv, Israel; Amos D Korczyn, Tel-Aviv University, Tel-Aviv, Israel; Karen L Oliver, University of Melbourne, Austin Health, Melbourne, V
Rationale: 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, MRI and 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. Conclusions: Chorea-Acanthocytosis patients carrying the described rare mutation can present with focal, treatment resistant seizures. Funding: -
Clinical Epilepsy