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Huntington’s chorea in South Africa
Includes bibliographical references.
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Division of Human Genetics
2015
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| _version_ | 1867613231721218048 |
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| access_status_str | Open Access |
| author | Hayden, Michael Reuben |
| author2 | Beighton, Peter |
| author_browse | Beighton, Peter Hayden, Michael Reuben |
| author_facet | Beighton, Peter Hayden, Michael Reuben |
| author_sort | Hayden, Michael Reuben |
| collection | Thesis |
| description | Includes bibliographical references. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/12684 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:32:51.499Z |
| 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 | Division of Human Genetics |
| publisherStr | Division of Human Genetics |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/12684 Huntington’s chorea in South Africa Hayden, Michael Reuben Beighton, Peter Human Genetics Includes bibliographical references. South Africa offers unique opportunities for the investigation of genetically determined illnesses in view of the excellent facilities available and the different origins of the various population groups. Huntington's chorea is generally considered to be a very rare disease in South Africa. Evidence in support of this, is the dearth of publications concerning the disorder in this country. By 1977 there had been only two such articles, in marked contrast to the plethora of reports from around the world. This investigation was concerned with the study of many different aspects of Huntington's chorea in South Africa. The primary aims were to determine the history, frequency, clinical presentation and course of Huntington's chorea in the Republic. In the wake of the genealogical and clinical findings, interesting new observations and exploration of the established concepts of the genetics of Huntington's chorea have been undertaken. A major attempt has been made to investigate the hypothesis that dopamine excess is important in the pathophysiology of this condition. Since dopamine has an important regulatory function on anterior pituitary hormone secretion, affected individuals might be expected to have abnormal patterns of hormonal regulation. The disturbances in prolactin, thyrotropin and growth hormone secretion reported in this thesis, support the concept of dopamine predominance. The demonstration of similar neuroendocrine abnormalities in twelve of 23 clinically normal first-generation relatives may have importance for presymptomatic diagnosis. Although not a primary focus of the investigation, it soon became apparent that the social implications of this disorder were extremely important and largely unexplored. The attention of all health professionals is drawn to the tremendous cost of the disorder, and recommendations for improved care are proposed. Huntington's chorea is a far more serious problem in South Africa than was initially suspected. The gene was probably introduced by the first Dutch settlers over 300 years ago, and is found today in all population groups. The South African population of mixed ancestry has amongst the highest frequency of juvenile Huntington's chorea in the world. Even though the present study deals with only one relatively uncommon illness, the concepts presented are pertinent to numerous other unrelated chronic diseases, with which Huntington's chorea has shared concerns and needs. 2015-04-08T10:08:37Z 2015-04-08T10:08:37Z 1979 Doctoral Thesis Doctoral PhD http://hdl.handle.net/11427/12684 eng application/pdf Division of Human Genetics Faculty of Health Sciences University of Cape Town |
| spellingShingle | Human Genetics Hayden, Michael Reuben Huntington’s chorea in South Africa |
| thesis_degree_str | Doctoral |
| title | Huntington’s chorea in South Africa |
| title_full | Huntington’s chorea in South Africa |
| title_fullStr | Huntington’s chorea in South Africa |
| title_full_unstemmed | Huntington’s chorea in South Africa |
| title_short | Huntington’s chorea in South Africa |
| title_sort | huntington s chorea in south africa |
| topic | Human Genetics |
| url | http://hdl.handle.net/11427/12684 |
| work_keys_str_mv | AT haydenmichaelreuben huntingtonschoreainsouthafrica |