Article
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
European journal of human genetics : EJHG - 1 Oct 2024
Yahia Ashraf, Hamed Ahlam A A, Mohamed Inaam N, Elseed Maha A, Salih Mustafa A, El-Sadig Sarah M, Siddig Hassab Elrasoul, Nasreldien Ali Elsir Musa, Abdullah Mohamed Ahmed, Elzubair Maha, Omer Farouk Yassen, Bakhiet Aisha Motwakil, Abubaker Rayan, Abozar Fatima, Adil Rawaa, Emad Sara, Musallam Mhammed Alhassan, Eltazi Isra Z M, Omer Zulfa, Malik Hiba, Mohamed Mayada O E, Elhassan Ali A, Mohamed Eman O E, Ahmed Ahmed K M A, Ahmed Elhami A A, Eltaraifee Esraa, Hussein Bidour K, Abd Allah Amal S I, Salah Lina, Nimir Mohamed, Tag Elseed Omnia M, Elhassan Tasneem E A, Elbashier Abubakr, Alfadul Esraa S A, Fadul Moneeb, Ali Khalil F, Taha Shaimaa Omer M A, Bushara Elfatih E, Amin Mutaz, Koko Mahmoud, Ibrahim Muntaser E, Ahmed Ammar E, Elsayed Liena E O, Stevanin Giovanni
Abstract excerpt
Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include hereditary spastic paraplegia (HSP), cerebellar ataxia, and spinocerebellar ataxia. They are often complicated with axonal neuropathy and/or intellectual impairment and overlap with many neurological conditions, including neurodevelopmental disorders....
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