Article
Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan.
Parkinsonism & related disorders - 1 Jun 2023
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, Eldirdiri Abdelrahman Hazim, Khidir Reem J, Mohamed Malaz T, Abdalla Abdelmohaymin, Elsayed Liena E O, Lesage Suzanne, Corvol Jean-Christophe, Seidi Osheik, Wüllner Ullrich
Abstract excerpt
PINK1 is the second most predominant gene associated with autosomal recessive Parkinson's disease. Homozygous 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...
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