Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report

• Main Authors: Fatima Ouchkat (Author), Wafaa Regragui (Author), Imane Smaili (Author), Hajar Naciri Darai (Author), Naima Bouslam (Author), Mounia Rahmani (Author), Adyl Melhaoui (Author), Yasser Arkha (Author), Elmostafa El Fahime (Author), Ahmed Bouhouche (Author)
• Format: Book
• Published: BMC, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromuscular signs. It is caused by mutations in VPS13A gene with autosomal rec...