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1. Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan

Author

Bakhit, Yousuf, primary, Ibrahim, Mohamed O., additional, Tesson, Christelle, additional, Elhassan, Ali A., additional, Ahmed, Mohamed Anwer, additional, Alebeed, Mohamed A., additional, Elrasheed, Salma M., additional, Omar, Mawia A., additional, Abubaker, Rayan, additional, Eltom, Khalid, additional, Shaheen, Mutaz T., additional, Ibrahim, Yousuf A., additional, Almak, Murad E., additional, Ali, Hiba A., additional, Abugrain, Ahmed A., additional, Almahal, Mohamed A., additional, MohamedSharif, Abubaker A., additional, Tahir, Mohamed Y., additional, Malik, Sawazen M., additional, Eldirdiri Abdelrahman, Hazim, additional, Khidir, Reem J., additional, Mohamed, Malaz T., additional, Abdalla, Abdelmohaymin, additional, Elsayed, Liena E.O., additional, Lesage, Suzanne, additional, Corvol, Jean-Christophe, additional, Seidi, Osheik, additional, and Wüllner, Ullrich, additional

Published
2023
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2. Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan

Author

Bakhit, Yousuf, Ibrahim, Mohamed O., Tesson, Christelle, Elhassan, Ali A., Ahmed, Mohamed Anwer, Alebeed, Mohamed A., Elrasheed, Salma M., Omar, Mawia A., Abubaker, Rayan, Eltom, Khalid, Shaheen, Mutaz T., Ibrahim, Yousuf A., Almak, Murad E., Ali, Hiba A., Abugrain, Ahmed A., Almahal, Mohamed A., MohamedSharif, Abubaker A., Tahir, Mohamed Y., Malik, Sawazen M., Abdelrahman, Hazim Eldirdiri, Khidir, Reem J., Mohamed, Malaz T., Abdalla, Abdelmohaymin, Elsayed, Liena E. O., Lesage, Suzanne, Corvol, Jean-Christophe, Seidi, Osheik, Wüllner, Ullrich, Bakhit, Yousuf, Ibrahim, Mohamed O., Tesson, Christelle, Elhassan, Ali A., Ahmed, Mohamed Anwer, Alebeed, Mohamed A., Elrasheed, Salma M., Omar, Mawia A., Abubaker, Rayan, Eltom, Khalid, Shaheen, Mutaz T., Ibrahim, Yousuf A., Almak, Murad E., Ali, Hiba A., Abugrain, Ahmed A., Almahal, Mohamed A., MohamedSharif, Abubaker A., Tahir, Mohamed Y., Malik, Sawazen M., Abdelrahman, Hazim Eldirdiri, Khidir, Reem J., Mohamed, Malaz T., Abdalla, Abdelmohaymin, Elsayed, Liena E. O., Lesage, Suzanne, Corvol, Jean-Christophe, Seidi, Osheik, and Wüllner, Ullrich

Abstract

PINK1 is the second most predominant gene associated with autosomal recessive Parkinson's disease. Homo-zygous mutations in this gene are associated with an early onset of symptoms. Bradykinesia, tremors, and rigidity are common features, while dystonia, motor fluctuation, and non-motor symptoms occur in a lower percentage of cases and usually respond well to levodopa. We investigated 14 individuals with parkinsonism and eleven symptom-free siblings from three consanguineous Sudanese families, two of them multigenerational, using a custom gene panel screening 34 genes, 27 risk variants, and 8 candidate genes associated with parkinsonism. We found a known pathogenic nonsense PINK1 variant (NM_032409.3:c.1366C>T; p.(Gln456*)), a novel pathogenic single base duplication (NM_032409.3:c.1597dup; p.(Gln533Profs*29)), and another novel pathogenic insertion (NM_032409.3:c.1448_1449ins[1429_1443; TTGAG]; p.(Arg483Serfs*7)). All variants were homozygous and co -segregated in all affected family members. We also identified intrafamilial and interfamilial phenotypic het-erogeneity associated with PINK1 mutations in these Sudanese cases, possibly reflecting the nature of the Sudanese population that has a large effective population size, which suggests a higher possibility of novel findings in monogenic and polygenic diseases in Sudan.

Published
2023
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3. Methylation of alpha-synuclein in a Sudanese cohort

Author

Bakhit, Yousuf, primary, Schmitt, Ina, additional, Hamed, Ahlam, additional, Ibrahim, Etedal Ahmed A., additional, Mohamed, Inaam N., additional, El-Sadig, Sarah M., additional, Elseed, Maha A., additional, Alebeed, Mohamed A., additional, Shaheen, Mutaz T., additional, Ibrahim, Mohamed O., additional, Elhassan, Ali A., additional, Eltom, Khalid, additional, Ali, Hiba A., additional, Ibrahim, Yousuf A., additional, Almak, Murad E., additional, Abubaker, Rayan, additional, Ahmed, Mohamed Anwer, additional, Abugrain, Ahmed A., additional, Elrasheed, Salma M., additional, Omar, Mawia A., additional, Almahal, Mohamed A., additional, MohamedSharif, Abubaker A., additional, Tahir, Mohamed Y., additional, Malik, Sawazen M., additional, Eldirdiri, Hazim S., additional, Khidir, Reem J., additional, Mohamed, Malaz T., additional, Abdalla, Abdelmohaymin, additional, Omer, Farouk Yassen, additional, Elsayed, Liena E.O., additional, Babikir, Haydar El Hadi, additional, Bukhari, Elfateh Abd-Allah, additional, Seidi, Osheik, additional, and Wüllner, Ullrich, additional

Published
2022
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