%0 Journal Article
%A Rasheed, Urwah
%A Khalid, Minahil
%A Noor, Aneeqa
%A Saeed, Umar
%A Uppal, Rizwan
%A Zafar, Saima
%T Genetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan.
%J Prion
%V 18
%N 1
%@ 1933-6896
%C London [u.a.]
%I Taylor & Francis
%M DZNE-2024-01435
%P 1 - 7
%D 2024
%X Rapidly progressive dementias (RPDs) are a type of fatal dementias that cause rapid progression of neuronal dysfunction. This study aimed to assess the prevalence of APOE genotypes (ε2, ε3, ε4) and PRNP mutations (E200K, M129V) in the general population of Pakistan because of their association with RPDs, including Rapidly Progressive Alzheimer's Disease (rpAD) and Creutzfeldt-Jakob Disease (CJD). Blood samples (n = 100) were collected from healthy Pakistani population and the stated mutations were assessed using polymerase chain reaction. In the analysis of the APOE genotype, ε3/ε3 genotype was the most common (95
%K Humans
%K Pakistan
%K Prion Proteins: genetics
%K Genotype
%K Apolipoproteins E: genetics
%K Female
%K Male
%K Polymorphism, Genetic: genetics
%K Creutzfeldt-Jakob Syndrome: genetics
%K Dementia: genetics
%K Mutation: genetics
%K Alleles
%K Gene Frequency: genetics
%K Middle Aged
%K Alzheimer Disease: genetics
%K Aged
%K Alzheimer’s disease (Other)
%K Creutzfeldt-Jakob disease (Other)
%K incidence (Other)
%K rapidly progressive Alzheimer’s disease (Other)
%K rapidly progressive dementia (Other)
%K Prion Proteins (NLM Chemicals)
%K PRNP protein, human (NLM Chemicals)
%K Apolipoproteins E (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39654135
%R 10.1080/19336896.2024.2439598
%U https://pub.dzne.de/record/274007