SwePub
Sök i LIBRIS databas

  Extended search

onr:"swepub:oai:DiVA.org:uu-506571"
 

Search: onr:"swepub:oai:DiVA.org:uu-506571" > Intrafamilial and i...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist
  • Bakhit, YousufUniv 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. (author)

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

  • Article/chapterEnglish2023

Publisher, publication year, extent ...

  • Elsevier,2023
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-506571
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-506571URI
  • https://doi.org/10.1016/j.parkreldis.2023.105401DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Ibrahim, Mohamed O.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Sudan Univ Sci & Technol, Fac Med, Dept Biochem, Khartoum, Sudan. (author)
  • Tesson, ChristelleSorbonne Univ, Paris Brain Inst, Inst Cerveau, ICM,Inserm,CNRS, Paris, France. (author)
  • Elhassan, Ali A.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Ahmed, Mohamed AnwerUniv Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Alebeed, Mohamed A.Sudan Univ Sci & Technol, Fac Med, Dept Biochem, Khartoum, Sudan. (author)
  • Elrasheed, Salma M.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Omar, Mawia A.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Abubaker, RayanUniv Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Eltom, KhalidUppsala universitet,Institutionen för medicinsk cellbiologi,Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.(Swepub:uu)khael540 (author)
  • Shaheen, Mutaz T.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Ibrahim, Yousuf A.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Almak, Murad E.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Ali, Hiba A.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Abugrain, Ahmed A.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Almahal, Mohamed A.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • MohamedSharif, Abubaker A.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Univ Khartoum, Fac Med, Dept Anat, Khartoum, Sudan. (author)
  • Tahir, Mohamed Y.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Malik, Sawazen M.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Abdelrahman, Hazim EldirdiriUniv Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Inst Psychiat & Neurosci Paris, 102 rue Sante, F-75014 Paris, France. (author)
  • Khidir, Reem J.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Mohamed, Malaz T.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan. (author)
  • Abdalla, AbdelmohayminUniv Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Mayo Clin, Dept Pulm & Crit Care, Phoenix, AZ USA. (author)
  • Elsayed, Liena E. O.Princess Nourah bint Abdulrahman Univ, Coll Med, Dept Basic Sci, POB 84428, Riyadh 11671, Saudi Arabia. (author)
  • Lesage, SuzanneSorbonne Univ, Paris Brain Inst, Inst Cerveau, ICM,Inserm,CNRS, Paris, France. (author)
  • Corvol, Jean-ChristopheSorbonne Univ, Pitie Salpetriere Hosp, Assistance Publ Hop Paris, Paris Brain Inst,Dept Neurol,ICM,Inserm,CNRS, Paris, France. (author)
  • Seidi, OsheikUniv Khartoum, Soba Teaching Hosp, Dept Neurol, Khartoum, Sudan. (author)
  • Wüllner, UllrichUniv 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. (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.Univ Khartoum, Sudan Neurosci Projects SNPs, Khartoum, Sudan.;Sudan Univ Sci & Technol, Fac Med, Dept Biochem, Khartoum, Sudan. (creator_code:org_t)

Related titles

  • In:Parkinsonism & Related Disorders: Elsevier1111353-80201873-5126

Internet link

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view