biostudies-literatureYahia AKing Saud University (KSU)The Ministry of Higher Education, Sudan and the French Embassy, SudanEC | Horizon 2020 Framework ProgrammeKing Saud UniversityThe Association Connaitre les Syndromes Cérébelleux ASL-HSP-France patient association Ministry of Higher Education, Sudan French Embassy, SudanEC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020)1214-1226https://www.ebi.ac.uk/biostudies/studies/S-EPMC11499676biostudies-literatureUnknown32(10)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. More than 200 genes and loci inherited through all modes of Mendelian inheritance are known. Autosomal recessive inheritance predominates in consanguineous communities; however, autosomal dominant and X-linked inheritance can also occur. Sudan is inhabited by genetically diverse populations, yet it has high consanguinity rates. We used next-generation sequencing, genotyping, bioinfEuropean journal of human genetics : EJHGClinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.PMC11499676RSP-2020/38779257 - Solve-RDNasreldien AEMYahia AAmin MMohamed INIbrahim MEBakhiet AMAdil RElhassan TEAMohamed MOEElseed MAEltazi IZMEltaraifee ENimir MAhmed AEAlfadul ESATag Elseed OMElsayed LEOHamed AAAOmer ZAbd Allah ASISalah LKoko MAbdullah MAAbozar FMohamed EOESiddig HEFadul MElzubair MElhassan AAAhmed EAABushara EEStevanin GAbubaker RMalik HEl-Sadig SMMusallam MAAli KFTaha SOMAEmad SSalih MAAhmed AKMAOmer FYHussein BKElbashier AfalseClinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.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. More than 200 genes and loci inherited through all modes of Mendelian inheritance are known. Autosomal recessive inheritance predominates in consanguineous communities; however, autosomal dominant and X-linked inheritance can also occur. Sudan is inhabited by genetically diverse populations, yet it has high consanguinity rates. We used next-generation sequencing, genotyping, bioinf2024-01-01T00:00:00Z2024 Oct2026-06-02T09:18:52.367Z2025-04-04T23:32:17.384ZS-EPMC114996763701232710.1038/s41431-023-01344-6