Ashraf Yahia, Liena E O Elsayed, Remi Valter, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed, Mustafa A Salih, Typhaine Esteves, Nicolas Auger, Rayan Abubaker, Mahmoud Koko, Fatima Abozar, Hiba Malik, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Razaz Idris, Isra Z M Eltazi, Arwa Babai, Elhami A A Ahmed, Amal S I Abd Allah, Mathilde Mairey, Ahmed K M A Ahmed, Mustafa I Elbashir, Alexis Brice, Muntaser E Ibrahim, Ammar E Ahmed, Foudil Lamari, Giovanni Stevanin
Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in multiple cellular processes are implicated in their pathogenesis, including lipid metabolism; but still 40% of the patients are undiagnosed. Our goal was to identify the disease-causing variants in Sudanese families excluded for known genetic causes and describe a novel clinico-genetic entity...
2021: Frontiers in Neurology