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Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study
Includes bibliographical references.
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Department of Clinical Laboratory Sciences
2015
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| _version_ | 1867613989307940864 |
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| access_status_str | Open Access |
| author | Smith, Danielle Claire |
| author2 | Greenberg, Jacquie |
| author_browse | Greenberg, Jacquie Smith, Danielle Claire |
| author_facet | Greenberg, Jacquie Smith, Danielle Claire |
| author_sort | Smith, Danielle Claire |
| collection | Thesis |
| description | Includes bibliographical references. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/13022 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:44:54.564Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2015 |
| publishDateRange | 2015 |
| publishDateSort | 2015 |
| publisher | Department of Clinical Laboratory Sciences |
| publisherStr | Department of Clinical Laboratory Sciences |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/13022 Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study Smith, Danielle Claire Greenberg, Jacquie Kidson, Susan Human Genetics Includes bibliographical references. 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. 2015-05-28T12:27:15Z 2015-05-28T12:27:15Z 2014 Doctoral Thesis Doctoral PhD http://hdl.handle.net/11427/13022 eng application/pdf Department of Clinical Laboratory Sciences Faculty of Health Sciences University of Cape Town |
| spellingShingle | Human Genetics Smith, Danielle Claire Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study |
| thesis_degree_str | Doctoral |
| title | Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study |
| title_full | Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study |
| title_fullStr | Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study |
| title_full_unstemmed | Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study |
| title_short | Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study |
| title_sort | spinocerebellar ataxia type 7 in southern africa an epidemiological molecular and cellular study |
| topic | Human Genetics |
| url | http://hdl.handle.net/11427/13022 |
| work_keys_str_mv | AT smithdanielleclaire spinocerebellarataxiatype7insouthernafricaanepidemiologicalmolecularandcellularstudy |