Felix Benninger1, Zaid Afawi2, Amos D Korczyn3, Karen L Oliver4, Manuela Pendziwiat5, Masayuki Nakamura6, Akira Sano6, Ingo Helbig5,7, Samuel F Berkovic8, Ilan Blatt9. 1. Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel. 2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 3. Department of Neurology, Tel Aviv University, Tel Aviv, Israel. 4. Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Victoria, Australia. 5. Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany. 6. Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Sakuragaoka, Kagoshima, Japan. 7. Division of Neurology, The Children's Hospital of Philadelphia, Philadephia, Pennsylvania, U.S.A. 8. Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia. 9. Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.
Abstract
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. Wiley Periodicals, Inc.
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. Wiley Periodicals, Inc.
Authors: Susan Walker; Rubina Dad; Bhooma Thiruvahindrapuram; Muhammed Ikram Ullah; Arsalan Ahmad; Muhammad Jawad Hassan; Stephen W Scherer; Berge A Minassian Journal: Neurol Genet Date: 2018-05-18
Authors: Juliane Weber; Lars Frings; Michel Rijntjes; Horst Urbach; Judith Fischer; Cornelius Weiller; Philipp T Meyer; Stephan Klebe Journal: Front Neurol Date: 2019-01-09 Impact factor: 4.003