Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study

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dc.contributor.advisorGreenberg, Jacquieen_ZA
dc.contributor.advisorKidson, Susanen_ZA
dc.contributor.authorSmith, Danielle Claireen_ZA
dc.date.accessioned2015-05-28T12:27:15Z
dc.date.available2015-05-28T12:27:15Z
dc.date.issued2014en_ZA
dc.descriptionIncludes bibliographical references.en_ZA
dc.description.abstractSpinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by a pathogenic expansion of a CAG repeat within the ataxin 7 gene, resulting in an expanded polyglutamine tract in the ATXN7 protein. SCA7 patients suffer from selective degeneration of cerebellar Purkinje neurons and retinal photoreceptors, which leads to the development of various neurological symptoms, and blindness. SCA7 is considered to be a relatively rare disease, but South Africa has an increased prevalence of the SCA7 due to a founder effect within the black African population. In this study, three distinct but complementary approaches were taken to investigate SCA7 in South Africa, with the aim of estimating the prevalence of the disease, developing improved approaches for molecular diagnostic testing, and establishing a model for in vitro studies of pathogenesis.en_ZA
dc.identifier.apacitationSmith, D. C. (2014). <i>Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences. Retrieved from http://hdl.handle.net/11427/13022en_ZA
dc.identifier.chicagocitationSmith, Danielle Claire. <i>"Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences, 2014. http://hdl.handle.net/11427/13022en_ZA
dc.identifier.citationSmith, D. 2014. Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Smith, Danielle Claire AB - Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by a pathogenic expansion of a CAG repeat within the ataxin 7 gene, resulting in an expanded polyglutamine tract in the ATXN7 protein. SCA7 patients suffer from selective degeneration of cerebellar Purkinje neurons and retinal photoreceptors, which leads to the development of various neurological symptoms, and blindness. SCA7 is considered to be a relatively rare disease, but South Africa has an increased prevalence of the SCA7 due to a founder effect within the black African population. In this study, three distinct but complementary approaches were taken to investigate SCA7 in South Africa, with the aim of estimating the prevalence of the disease, developing improved approaches for molecular diagnostic testing, and establishing a model for in vitro studies of pathogenesis. DA - 2014 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2014 T1 - Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study TI - Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study UR - http://hdl.handle.net/11427/13022 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/13022
dc.identifier.vancouvercitationSmith DC. Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences, 2014 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/13022en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDepartment of Clinical Laboratory Sciencesen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherHuman Geneticsen_ZA
dc.titleSpinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular studyen_ZA
dc.typeDoctoral Thesis
dc.type.qualificationlevelDoctoral
dc.type.qualificationnamePhDen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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