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dc.contributor.advisorMellick, George
dc.contributor.authorKhan, Sulimanen_US
dc.date.accessioned2018-01-23T02:29:34Z
dc.date.available2018-01-23T02:29:34Z
dc.date.issued2016en_US
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.en_US
dc.languageEnglishen_US
dc.publisherGriffith Universityen_US
dc.publisher.placeBrisbaneen_US
dc.rights.copyrightThe author owns the copyright in this thesis, unless stated otherwise.en_US
dc.subject.keywordsParkinson’s disease, Pakistanen_US
dc.subject.keywordsGenetic diseases,Pakistanen_US
dc.titleStudying the Prevalence and Genetic Contributions to Parkinsonism in Pakistanen_US
dc.typeGriffith thesisen_US
dc.date.embargoEnd2018en_US
gro.facultyScience, Environment, Engineering and Technologyen_US
gro.rights.copyrightThe author owns the copyright in this thesis, unless stated otherwise.
gro.hasfulltextFull Text
dc.contributor.otheradvisorWood, Stephen
dc.rights.accessRightsRestricted (for period of time)en_US
gro.identifier.gurtIDgu1489038646749en_US
gro.thesis.degreelevelThesis (PhD Doctorate)en_US
gro.thesis.degreeprogramDoctor of Philosophy (PhD)en_US
gro.departmentSchool of Natural Sciencesen_US
gro.griffith.authorKhan, Suliman


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