{"id":{"repo_id":"cape-town","oai_identifier":"oai:open.uct.ac.za:11427/13022"},"canonical_url":"https://search.dev.ndltd.org/etd/cape-town/oai:open.uct.ac.za:11427/13022","repository":{"repo_id":"cape-town","name":"University of Cape Town","base_url":"https://open.uct.ac.za/oai/request"},"display":{"title":"Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study","abstract":"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.","abstract_html":"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.","abstract_has_math":false,"creators":["Smith, Danielle Claire"],"institution":"Department of Clinical Laboratory Sciences","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Greenberg, Jacquie","Kidson, Susan"],"committee_chairs":[],"committee_members":[],"year":2014,"date_issued":"2014","date_published":"2014","updated_at":"2026-07-22T22:23:39Z","subjects":[],"languages":["eng"],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11427/13022","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Greenberg, Jacquie","Kidson, Susan"]},{"key":"dc:creator","label":"Author","values":["Smith, Danielle Claire"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2015-05-28T12:27:15Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2015-05-28T12:27:15Z"]},{"key":"dc:date.issued","label":"Date","values":["2014"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["Department of Clinical Laboratory Sciences"]},{"key":"dc:publisher.institution","label":"Dc Publisher Institution","values":["University of Cape Town"]},{"key":"dc:type","label":"Dc Type","values":["Doctoral Thesis"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Doctoral"]},{"key":"dc:type.qualificationname","label":"Dc Type Qualificationname","values":["PhD"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language.iso","label":"Language (ISO)","values":["eng"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["http://hdl.handle.net/11427/13022"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["Includes bibliographical references."]},{"key":"dc:description.abstract","label":"Abstract","values":["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."]},{"key":"dc:title","label":"Title","values":["Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study"]}]}],"canonical_facts":{"dc:contributor.advisor":["Greenberg, Jacquie","Kidson, Susan"],"dc:creator":["Smith, Danielle Claire"],"dc:date.accessioned":["2015-05-28T12:27:15Z"],"dc:date.available":["2015-05-28T12:27:15Z"],"dc:date.issued":["2014"],"dc:description":["Includes bibliographical references."],"dc:description.abstract":["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."],"dc:identifier.uri":["http://hdl.handle.net/11427/13022"],"dc:language.iso":["eng"],"dc:publisher.department":["Department of Clinical Laboratory Sciences"],"dc:publisher.institution":["University of Cape Town"],"dc:title":["Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study"],"dc:type":["Doctoral Thesis"],"dc:type.qualificationlevel":["Doctoral"],"dc:type.qualificationname":["PhD"]},"updated_at":"2026-07-22T22:23:39Z"}