Expression of genetic peripheral neuropathies in South African Children

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dc.contributor.advisorWilmshurst, Joanne
dc.contributor.authorKandawasvika, Quetoline
dc.date.accessioned2025-02-25T13:06:03Z
dc.date.available2025-02-25T13:06:03Z
dc.date.issued2024
dc.date.updated2025-02-25T12:56:08Z
dc.description.abstractGenetic 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.
dc.identifier.apacitationKandawasvika, Q. (2024). <i>Expression of genetic peripheral neuropathies in South African Children</i>. (). University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. Retrieved from http://hdl.handle.net/11427/41021en_ZA
dc.identifier.chicagocitationKandawasvika, Quetoline. <i>"Expression of genetic peripheral neuropathies in South African Children."</i> ., University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2024. http://hdl.handle.net/11427/41021en_ZA
dc.identifier.citationKandawasvika, Q. 2024. Expression of genetic peripheral neuropathies in South African Children. . University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. http://hdl.handle.net/11427/41021en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Kandawasvika, Quetoline AB - 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. DA - 2024 DB - OpenUCT DP - University of Cape Town KW - Paediatrics and Child Health LK - https://open.uct.ac.za PB - University of Cape Town PY - 2024 T1 - Expression of genetic peripheral neuropathies in South African Children TI - Expression of genetic peripheral neuropathies in South African Children UR - http://hdl.handle.net/11427/41021 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/41021
dc.identifier.vancouvercitationKandawasvika Q. Expression of genetic peripheral neuropathies in South African Children. []. University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2024 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/41021en_ZA
dc.language.rfc3066Eng
dc.publisher.departmentDepartment of Paediatrics and Child Health
dc.publisher.facultyFaculty of Health Sciences
dc.publisher.institutionUniversity of Cape Town
dc.subjectPaediatrics and Child Health
dc.titleExpression of genetic peripheral neuropathies in South African Children
dc.typeThesis / Dissertation
dc.type.qualificationlevelMasters
dc.type.qualificationlevelMasters
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