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@ARTICLE{Rasheed:274007,
      author       = {Rasheed, Urwah and Khalid, Minahil and Noor, Aneeqa and
                      Saeed, Umar and Uppal, Rizwan and Zafar, Saima},
      title        = {{G}enetic assessment of apolipoprotein {E} polymorphism and
                      {PRNP} genotypes in rapidly progressive dementias in
                      {P}akistan.},
      journal      = {Prion},
      volume       = {18},
      number       = {1},
      issn         = {1933-6896},
      address      = {London [u.a.]},
      publisher    = {Taylor $\&$ Francis},
      reportid     = {DZNE-2024-01435},
      pages        = {1 - 7},
      year         = {2024},
      abstract     = {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 $(95\%),$
                      followed by ε3/ε4 $(5\%)$ and ε2 allele was completely
                      absent. A low frequency of ε4 allele and the absence of a
                      protective ε2 allele is associated with an increased risk
                      of rpAD. In the case of PRNP mutations, the most common
                      genotype was M129-Ε200 $(71\%)$ and V129-Ε200 $(29\%).$
                      E200K mutation was completely absent from the given
                      population. It is noteworthy that the MM homozygous genotype
                      was present in 71 samples, VV genotype was present in 29.
                      Homozygosity on codon 129, as observed in most of our
                      samples, has been associated with more efficient production
                      of PrPSc and disease pathology. This study provides
                      preliminary data indicating that rpAD and CJD pose a
                      significant threat to the Pakistani population.},
      keywords     = {Humans / Pakistan / Prion Proteins: genetics / Genotype /
                      Apolipoproteins E: genetics / Female / Male / Polymorphism,
                      Genetic: genetics / Creutzfeldt-Jakob Syndrome: genetics /
                      Dementia: genetics / Mutation: genetics / Alleles / Gene
                      Frequency: genetics / Middle Aged / Alzheimer Disease:
                      genetics / Aged / Alzheimer’s disease (Other) /
                      Creutzfeldt-Jakob disease (Other) / incidence (Other) /
                      rapidly progressive Alzheimer’s disease (Other) / rapidly
                      progressive dementia (Other) / Prion Proteins (NLM
                      Chemicals) / PRNP protein, human (NLM Chemicals) /
                      Apolipoproteins E (NLM Chemicals)},
      cin          = {AG Zerr},
      ddc          = {570},
      cid          = {I:(DE-2719)1440011-1},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39654135},
      doi          = {10.1080/19336896.2024.2439598},
      url          = {https://pub.dzne.de/record/274007},
}