TY  - JOUR
AU  - Rasheed, Urwah
AU  - Khalid, Minahil
AU  - Noor, Aneeqa
AU  - Saeed, Umar
AU  - Uppal, Rizwan
AU  - Zafar, Saima
TI  - Genetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan.
JO  - Prion
VL  - 18
IS  - 1
SN  - 1933-6896
CY  - London [u.a.]
PB  - Taylor & Francis
M1  - DZNE-2024-01435
SP  - 1 - 7
PY  - 2024
AB  - 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
KW  - Humans
KW  - Pakistan
KW  - Prion Proteins: genetics
KW  - Genotype
KW  - Apolipoproteins E: genetics
KW  - Female
KW  - Male
KW  - Polymorphism, Genetic: genetics
KW  - Creutzfeldt-Jakob Syndrome: genetics
KW  - Dementia: genetics
KW  - Mutation: genetics
KW  - Alleles
KW  - Gene Frequency: genetics
KW  - Middle Aged
KW  - Alzheimer Disease: genetics
KW  - Aged
KW  - Alzheimer’s disease (Other)
KW  - Creutzfeldt-Jakob disease (Other)
KW  - incidence (Other)
KW  - rapidly progressive Alzheimer’s disease (Other)
KW  - rapidly progressive dementia (Other)
KW  - Prion Proteins (NLM Chemicals)
KW  - PRNP protein, human (NLM Chemicals)
KW  - Apolipoproteins E (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:39654135
DO  - DOI:10.1080/19336896.2024.2439598
UR  - https://pub.dzne.de/record/274007
ER  -