{"id":{"repo_id":"cape-town","oai_identifier":"oai:open.uct.ac.za:11427/41021"},"canonical_url":"https://search.dev.ndltd.org/etd/cape-town/oai:open.uct.ac.za:11427/41021","repository":{"repo_id":"cape-town","name":"University of Cape Town","base_url":"https://open.uct.ac.za/oai/request"},"display":{"title":"Expression of genetic peripheral neuropathies in South African Children","abstract":"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.","abstract_html":"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.","abstract_has_math":false,"creators":["Kandawasvika, Quetoline"],"institution":"Department of Paediatrics and Child Health","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Wilmshurst, Joanne"],"committee_chairs":[],"committee_members":[],"year":2024,"date_issued":"2024","date_published":"2024","updated_at":"2026-07-22T22:22:44Z","subjects":["Paediatrics and Child Health"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11427/41021","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Wilmshurst, Joanne"]},{"key":"dc:creator","label":"Author","values":["Kandawasvika, Quetoline"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2025-02-25T13:06:03Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2025-02-25T13:06:03Z"]},{"key":"dc:date.issued","label":"Date","values":["2024"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["Department of Paediatrics and Child Health"]},{"key":"dc:publisher.institution","label":"Dc Publisher Institution","values":["University of Cape Town"]},{"key":"dc:type","label":"Dc Type","values":["Thesis / Dissertation"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Masters"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Paediatrics and Child Health"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["http://hdl.handle.net/11427/41021"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["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."]},{"key":"dc:title","label":"Title","values":["Expression of genetic peripheral neuropathies in South African Children"]}]}],"canonical_facts":{"dc:contributor.advisor":["Wilmshurst, Joanne"],"dc:creator":["Kandawasvika, Quetoline"],"dc:date.accessioned":["2025-02-25T13:06:03Z"],"dc:date.available":["2025-02-25T13:06:03Z"],"dc:date.issued":["2024"],"dc:description.abstract":["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."],"dc:identifier.uri":["http://hdl.handle.net/11427/41021"],"dc:publisher.department":["Department of Paediatrics and Child Health"],"dc:publisher.institution":["University of Cape Town"],"dc:subject":["Paediatrics and Child Health"],"dc:title":["Expression of genetic peripheral neuropathies in South African Children"],"dc:type":["Thesis / Dissertation"],"dc:type.qualificationlevel":["Masters"]},"updated_at":"2026-07-22T22:22:44Z"}