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Intrafamilial and i...
Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan
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- Bakhit, Yousuf (author)
- Univ Hosp Bonn, Dept Neurol, Bonn, Germany.;Univ Khartoum, Fac Dent, Dept Basic Med Sci, Khartoum, Sudan.;Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Univ Hosp Bonn, Dept Neurol, Sigmund Freud Str 25, D-53127 Bonn, Germany.
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- Ibrahim, Mohamed O. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Sudan Univ Sci & Technol, Fac Med, Dept Biochem, Khartoum, Sudan.
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- Tesson, Christelle (author)
- Sorbonne Univ, Paris Brain Inst, Inst Cerveau, ICM,Inserm,CNRS, Paris, France.
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- Elhassan, Ali A. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Ahmed, Mohamed Anwer (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Alebeed, Mohamed A. (author)
- Sudan Univ Sci & Technol, Fac Med, Dept Biochem, Khartoum, Sudan.
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- Elrasheed, Salma M. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Omar, Mawia A. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Abubaker, Rayan (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Eltom, Khalid (author)
- Uppsala universitet,Institutionen för medicinsk cellbiologi,Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Shaheen, Mutaz T. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Ibrahim, Yousuf A. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Almak, Murad E. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Ali, Hiba A. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Abugrain, Ahmed A. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Almahal, Mohamed A. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- MohamedSharif, Abubaker A. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Univ Khartoum, Fac Med, Dept Anat, Khartoum, Sudan.
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- Tahir, Mohamed Y. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Malik, Sawazen M. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Abdelrahman, Hazim Eldirdiri (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Inst Psychiat & Neurosci Paris, 102 rue Sante, F-75014 Paris, France.
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- Khidir, Reem J. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Mohamed, Malaz T. (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.
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- Abdalla, Abdelmohaymin (author)
- Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Mayo Clin, Dept Pulm & Crit Care, Phoenix, AZ USA.
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- Elsayed, Liena E. O. (author)
- Princess Nourah bint Abdulrahman Univ, Coll Med, Dept Basic Sci, POB 84428, Riyadh 11671, Saudi Arabia.
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- Lesage, Suzanne (author)
- Sorbonne Univ, Paris Brain Inst, Inst Cerveau, ICM,Inserm,CNRS, Paris, France.
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- Corvol, Jean-Christophe (author)
- Sorbonne Univ, Pitie Salpetriere Hosp, Assistance Publ Hop Paris, Paris Brain Inst,Dept Neurol,ICM,Inserm,CNRS, Paris, France.
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- Seidi, Osheik (author)
- Univ Khartoum, Soba Teaching Hosp, Dept Neurol, Khartoum, Sudan.
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- Wüllner, Ullrich (author)
- Univ Hosp Bonn, Dept Neurol, Bonn, Germany.;German Ctr Neurodegenerat Dis DZNE, Bonn, Germany.;Univ Hosp Bonn, Dept Neurol, Sigmund Freud Str 25, D-53127 Bonn, Germany.
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Univ Hosp Bonn, Dept Neurol, Bonn, Germany;Univ Khartoum, Fac Dent, Dept Basic Med Sci, Khartoum, Sudan.;Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Univ Hosp Bonn, Dept Neurol, Sigmund Freud Str 25, D-53127 Bonn, Germany. Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Sudan Univ Sci & Technol, Fac Med, Dept Biochem, Khartoum, Sudan. (creator_code:org_t)
- Elsevier, 2023
- 2023
- English.
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In: Parkinsonism & Related Disorders. - : Elsevier. - 1353-8020 .- 1873-5126. ; 111
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Parkinson
- Sudan
- PINK1
- Heterogeneity
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Bakhit, Yousuf
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Ibrahim, Mohamed ...
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Tesson, Christel ...
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Elhassan, Ali A.
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Ahmed, Mohamed A ...
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Alebeed, Mohamed ...
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show more...
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Elrasheed, Salma ...
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Omar, Mawia A.
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Abubaker, Rayan
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Eltom, Khalid
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Shaheen, Mutaz T ...
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Ibrahim, Yousuf ...
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Almak, Murad E.
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Ali, Hiba A.
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Abugrain, Ahmed ...
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Almahal, Mohamed ...
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MohamedSharif, A ...
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Tahir, Mohamed Y ...
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Malik, Sawazen M ...
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Abdelrahman, Haz ...
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Khidir, Reem J.
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Mohamed, Malaz T ...
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Abdalla, Abdelmo ...
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Elsayed, Liena E ...
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Lesage, Suzanne
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Corvol, Jean-Chr ...
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Seidi, Osheik
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Wüllner, Ullrich
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Parkinsonism & R ...
- By the university
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Uppsala University