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dc.contributor.advisorMellick, George
dc.contributor.authorKhan, Suliman
dc.date.accessioned2018-01-23T02:29:34Z
dc.date.available2018-01-23T02:29:34Z
dc.date.issued2016
dc.identifier.doi10.25904/1912/2713
dc.identifier.urihttp://hdl.handle.net/10072/366434
dc.description.abstractThe current study investigated the prevalence and genetics of Parkinsonism and Parkinson’s disease (PD) in the Pakistani population. The prevalence of PD in the Pakistani population is unknown. Similarly, there are no well documented studies on the copy number variation (CNV) or the prevalence of variants such as the G2019S mutation in the LRRK2 gene and the D620N mutation in the VPS35 gene. The Pakistani population is highly consanguineous, which may be advantageous for the identification of variants associated with recessive forms of Parkinsonism. In the present study, we estimated the prevalence rate and assessed mutational profiles (including CNV analysis, single nucleotide polymorphism (SNP) genotyping and whole exome sequencing (WES) analysis) in consanguineous Parkinsonism families to discover variants segregating with the disease. We also performed an association analysis for 9 SNPs formerly found to be associated with PD in large-scale published genome-wide association studies (GWAS). For the prevalence estimation, we employed a door-to-door survey in the two districts Dir (Lower) and Malakand of the Khyber Pakhtunkhwa province of Pakistan. A total of four thousand individuals aged 50 and above were screened for PD symptoms with the help of a standard questionnaire developed by Rocca et al (1998). The estimated prevalence rate for Parkinsonism in individuals aged 65 and above was 1.7/100 (95% CI 0.9−2.46), and for PD was 1.28/100 (95%CI 0.6−1.94). For PD, the age standardized rate to the US 2000 standard population was 1.33/100.
dc.languageEnglish
dc.publisherGriffith University
dc.publisher.placeBrisbane
dc.rights.copyrightThe author owns the copyright in this thesis, unless stated otherwise.
dc.subject.keywordsParkinson’s disease, Pakistan
dc.subject.keywordsGenetic diseases,Pakistan
dc.titleStudying the Prevalence and Genetic Contributions to Parkinsonism in Pakistan
dc.typeGriffith thesis
dc.date.embargoEnd2018
gro.facultyScience, Environment, Engineering and Technology
gro.rights.copyrightThe author owns the copyright in this thesis, unless stated otherwise.
gro.hasfulltextFull Text
dc.contributor.otheradvisorWood, Stephen
gro.identifier.gurtIDgu1489038646749
gro.thesis.degreelevelThesis (PhD Doctorate)
gro.thesis.degreeprogramDoctor of Philosophy (PhD)
gro.departmentSchool of Natural Sciences
gro.griffith.authorKhan, Suliman


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