Expression of genetic peripheral neuropathies in South African Children

Kandawasvika, Quetoline

Expression of genetic peripheral neuropathies in South African Children

Thesis / Dissertation

2024

Publisher

University of Cape Town

Department

Department of Paediatrics and Child Health

Faculty

Faculty of Health Sciences

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.

Keywords

Paediatrics and Child Health

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