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Expression of genetic peripheral neuropathies in South African Children
Genetic peripheral neuropathies are described in European ancestries, with a population prevalence of 1:2500-1:10000. However, these diseases are under-reported and poorly understood in African populations. Definite, probable and suspected genetic peripheral neuropathy cases, were characterized from...
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| Format: | Thesis |
| Language: | Eng |
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Department of Paediatrics and Child Health
2025
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| _version_ | 1867613183963824128 |
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| access_status_str | Open Access |
| author | Kandawasvika, Quetoline |
| author2 | Wilmshurst, Joanne |
| author_browse | Kandawasvika, Quetoline Wilmshurst, Joanne |
| author_facet | Wilmshurst, Joanne Kandawasvika, Quetoline |
| author_sort | Kandawasvika, Quetoline |
| collection | Thesis |
| description | Genetic peripheral neuropathies are described in European ancestries, with a population prevalence of 1:2500-1:10000. However, these diseases are under-reported and poorly understood in African populations. Definite, probable and suspected genetic peripheral neuropathy cases, were characterized from children based in an African setting. A hospital based retrospective cross-sectional study was conducted through a referral neuromuscular disease centre in South Africa. Diagnostic work-up consisted of clinical, neurophysiology, where available histology and genetics screens. Of 63 recruited children, 19 % had definite (genetic confirmed) and 81% probable (neurophysiology and or histology confirmed) hereditary causes for neuropathy. Of the 63 individuals, 12 (19 %) were of African, 26 (41 %) Mixed, 24 (38%) European, 1(2%) Asian ancestry. 52% were females. Twelve with genetic confirmation consisted of seven CMT1A (PMP22 dup), two IGHMBP2, one MFN2, one SLC12A6 and one SLC52A3. Most children had axonal type of neuropathy (79.4 %): affecting African 11/12, Mixed 17/26, European 21/24 ancestries. Axonal neuropathy is the most common genetic neuropathy manifesting in children of African ancestry in South Africa. CMT1A was not identified in children of African ancestry. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/41021 |
| institution | University of Cape Town (South Africa) |
| language | Eng |
| last_indexed | 2026-06-10T12:32:06.010Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2025 |
| publishDateRange | 2025 |
| publishDateSort | 2025 |
| publisher | Department of Paediatrics and Child Health |
| publisherStr | Department of Paediatrics and Child Health |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/41021 Expression of genetic peripheral neuropathies in South African Children Kandawasvika, Quetoline Wilmshurst, Joanne Paediatrics and Child Health Genetic peripheral neuropathies are described in European ancestries, with a population prevalence of 1:2500-1:10000. However, these diseases are under-reported and poorly understood in African populations. Definite, probable and suspected genetic peripheral neuropathy cases, were characterized from children based in an African setting. A hospital based retrospective cross-sectional study was conducted through a referral neuromuscular disease centre in South Africa. Diagnostic work-up consisted of clinical, neurophysiology, where available histology and genetics screens. Of 63 recruited children, 19 % had definite (genetic confirmed) and 81% probable (neurophysiology and or histology confirmed) hereditary causes for neuropathy. Of the 63 individuals, 12 (19 %) were of African, 26 (41 %) Mixed, 24 (38%) European, 1(2%) Asian ancestry. 52% were females. Twelve with genetic confirmation consisted of seven CMT1A (PMP22 dup), two IGHMBP2, one MFN2, one SLC12A6 and one SLC52A3. Most children had axonal type of neuropathy (79.4 %): affecting African 11/12, Mixed 17/26, European 21/24 ancestries. Axonal neuropathy is the most common genetic neuropathy manifesting in children of African ancestry in South Africa. CMT1A was not identified in children of African ancestry. 2025-02-25T13:06:03Z 2025-02-25T13:06:03Z 2024 2025-02-25T12:56:08Z Thesis / Dissertation Masters Masters http://hdl.handle.net/11427/41021 Eng application/pdf Department of Paediatrics and Child Health Faculty of Health Sciences University of Cape Town |
| spellingShingle | Paediatrics and Child Health Kandawasvika, Quetoline Expression of genetic peripheral neuropathies in South African Children |
| thesis_degree_str | Master's |
| title | Expression of genetic peripheral neuropathies in South African Children |
| title_full | Expression of genetic peripheral neuropathies in South African Children |
| title_fullStr | Expression of genetic peripheral neuropathies in South African Children |
| title_full_unstemmed | Expression of genetic peripheral neuropathies in South African Children |
| title_short | Expression of genetic peripheral neuropathies in South African Children |
| title_sort | expression of genetic peripheral neuropathies in south african children |
| topic | Paediatrics and Child Health |
| url | http://hdl.handle.net/11427/41021 |
| work_keys_str_mv | AT kandawasvikaquetoline expressionofgeneticperipheralneuropathiesinsouthafricanchildren |