Background: Motor neuron disease (MND) is a devastating neurodegenerative disorder, with recognised phenotypic subtypes. Although prevalent in all parts of the world, little is described in the literature with regards motor neuron disease as it occurs in African populations. Aims: This study had two main aims: to conduct a systematic review of the current available literature on motor neuron disease in persons of African genetic descent, and to describe the clinical phenotype in a subgroup of MND patients with the flail arm (FA) variant seen at Groote Schuur Hospital MND clinic. Methods: In order to identify the current published knowledge of motor neuron disease in African populations, a systematic literature review was conducted using Pubmed and Google Scholar. For the case series description, patients presenting to the Groote Schuur Hospital MND clinic with a phenotype of restricted proximal upper limb, lower motor neuron involvement for at least 12 months after symptom onset, during the time period of March 2014 to September 2016, were considered for inclusion. A full clinical description of each case, including history, examination and electrophysiological findings, was conducted. Results: Review of the available literature on MND as it occurs in persons with African ancestry revealed that little is well described. Although there are a few original studies, all are small and most are out-dated. Some trends emerged, including younger age at onset of disease, tendency to longer survival, and possibly more frequent presentation with bilateral upper limb involvement. Six cases of FA variant of MND, representing 13% of the MND clinic cohort seen over the 2.5 years given time period, all with African genetic ancestry by self-categorization, are reported illustrating the various previously described features of this phenotype. Even within these few cases, there is variation in presentation and disease course. Conclusions: More research is required on African populations to address the questions surrounding MND as it occurs in Africans, including phenotypic and genetic similarities or differences to other populations. Although controversy surrounding exact case definition of the FA variant of MND remains, it does represent a unique phenotype, and seems to occur in patients of African genetic ancestry in a similar manner to that described in Caucasian populations.
| Identifer | oai:union.ndltd.org:netd.ac.za/oai:union.ndltd.org:uct/oai:localhost:11427/27825 |
| Date | January 2018 |
| Creators | Cross, Helen |
| Contributors | Heckmann, Jeannine M |
| Publisher | University of Cape Town, Faculty of Health Sciences, Division of Urology |
| Source Sets | South African National ETD Portal |
| Language | English |
| Detected Language | English |
| Type | Master Thesis, Masters, MMed |
| Format | application/pdf |
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