Motor neuron disease in an African population: A review of current literature and a case series of the flail arm variant in the Western Cape

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dc.contributor.advisorHeckmann, Jeannine Men_ZA
dc.contributor.authorCross, Helenen_ZA
dc.date.accessioned2018-04-24T13:52:57Z
dc.date.available2018-04-24T13:52:57Z
dc.date.issued2018en_ZA
dc.description.abstractBackground: 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.en_ZA
dc.identifier.apacitationCross, H. (2018). <i>Motor neuron disease in an African population: A review of current literature and a case series of the flail arm variant in the Western Cape</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Urology. Retrieved from http://hdl.handle.net/11427/27825en_ZA
dc.identifier.chicagocitationCross, Helen. <i>"Motor neuron disease in an African population: A review of current literature and a case series of the flail arm variant in the Western Cape."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Urology, 2018. http://hdl.handle.net/11427/27825en_ZA
dc.identifier.citationCross, H. 2018. Motor neuron disease in an African population: A review of current literature and a case series of the flail arm variant in the Western Cape. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Cross, Helen AB - 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. DA - 2018 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2018 T1 - Motor neuron disease in an African population: A review of current literature and a case series of the flail arm variant in the Western Cape TI - Motor neuron disease in an African population: A review of current literature and a case series of the flail arm variant in the Western Cape UR - http://hdl.handle.net/11427/27825 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/27825
dc.identifier.vancouvercitationCross H. Motor neuron disease in an African population: A review of current literature and a case series of the flail arm variant in the Western Cape. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Urology, 2018 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/27825en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Urologyen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherNeurologyen_ZA
dc.titleMotor neuron disease in an African population: A review of current literature and a case series of the flail arm variant in the Western Capeen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMMeden_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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