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Background: Hyperhomocysteinemia is a potentially modifiable risk factor for stroke, and may have a negative impact on the course of ischaemic stroke. The role of hyperhomocysteinemia as it relates to stroke in Africans is still uncertain. The objective of this study was to determine the prevalence and short-term impact of hyperhomocysteinemia in Nigerians with acute ischaemic stroke. We hypothesized that Hcy levels are significantly higher than in normal controls, worsen stroke severity, and increase short-term case fatality rates following acute ischaemic stroke.Methods: The study employed both a case-control and prospective follow-up design to study hospitalized adults with first - ever acute ischaemic stroke presenting within 48 hours of onset. Clinical histories, neurological evaluation (including National Institutes of Health Stroke Scale (NIHSS) scores on admission) were documented. Total plasma Hcy was determined on fasting samples drawn from controls and stroke cases (within 24 hours of hospitalization). Outcome at 4 weeks was assessed in stroke patients using the Glasgow Outcome Scale (GOS).Results: We evaluated 155 persons (69 acute ischaemic stroke and 86 healthy controls). The mean age +/- SD of the cases was 58.8 +/- 9.8 years, comparable to that of controls which was 58.3 +/- 9.9 years (T = 0.32; P = 0.75). The mean duration of stroke (SD) prior to hospitalization was 43.5 +/- 38.8 hours, and mean admission NIHSS score was 10.1 +/- 7.7. Total fasting Hcy in stroke patients was 10.2 +/- 4.6 umol/L and did not differ significantly from controls (10.1 +/- 3.6 umol/L; P = 0.88). Hyperhomocysteinemia, defined by plasma Hcy levels > 90th percentile of controls (>14.2 umol/L in women and >14.6 umol/L in men), was present in 7 (10.1%) stroke cases and 11 (12.8%) controls (odds ratio 0.86, 95% confidence interval 0.31 - 2.39; P > 0.05). In multiple regression analysis admission NIHSS score (but not plasma Hcy) was a significant determinant of 4 week outcome measured by GOS score (P < 0.0001).Conclusion: This exploratory study found that homocysteine levels are not significantly elevated in Nigerians with acute ischaemic stroke, and admission Hcy level is not a determinant of short-term (4 week) stroke outcome. [ABSTRACT FROM AUTHOR]

Recently, an African ancestry-specific Parkinson disease (PD) risk signal was identified at the gene encoding glucocerebrosidase (GBA1). This variant ( rs3115534 -G) is carried by ~50% of West African PD cases and imparts a dose-dependent increase in risk for disease. The risk variant has varied frequencies across African ancestry groups but is almost absent in European and Asian ancestry populations. GBA1 is a gene of high clinical and therapeutic interest. Damaging biallelic protein-coding variants cause Gaucher disease and monoallelic variants confer risk for PD and dementia with Lewy bodies, likely by reducing the function of glucocerebrosidase. Interestingly, the African ancestry-specific GBA1 risk variant is a noncoding variant, suggesting a different mechanism of action. Using full-length RNA transcript sequencing, we identified partial intron 8 expression in risk variant carriers (G) but not in nonvariant carriers (T). Antibodies targeting the N terminus of glucocerebrosidase showed that this intron-retained isoform is likely not protein coding and subsequent proteomics did not identify a shorter protein isoform, suggesting that the disease mechanism is RNA based. Clustered regularly interspaced short palindromic repeats editing of the reported index variant ( rs3115534 ) revealed that this is the sequence alteration responsible for driving the production of these transcripts containing intron 8. Follow-up analysis of this variant showed that it is in a key intronic branchpoint sequence and, therefore, has important implications in splicing and disease. In addition, when measuring glucocerebrosidase activity, we identified a dose-dependent reduction in risk variant carriers. Overall, we report the functional effect of a GBA1 noncoding risk variant, which acts by interfering with the splicing of functional GBA1 transcripts, resulting in reduced protein levels and reduced glucocerebrosidase activity. This understanding reveals a potential therapeutic target in an underserved and underrepresented population., Competing Interests: Competing interests: M.M.B’s, H.L.’s and M.A.N.’s participation in this project was part of a competitive contract awarded to Data Tecnica International by the NIH to support open science research. M.A.N. also currently serves on the scientific advisory board for Character Bio and is a scientific founder at Neuron23. M.R., S.F., C. Beetz and P.B. are employees of Centogene. The remaining authors declare no competing interests., (© 2024. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)

Knowledge on the genetic basis of Parkinson's disease has grown tremendously since the discovery of the first monogenic form, caused by a mutation in α-synuclein, and with the subsequent identification of multiple other causative genes and associated loci. Genetic studies provide insights into the phenotypic heterogeneity and global distribution of Parkinson's disease. By shedding light on the underlying biological mechanisms, genetics facilitates the identification of new biomarkers and therapeutic targets. Several clinical trials of genetics-informed therapies are ongoing or imminent. International programmes in populations who have been under-represented in Parkinson's disease genetics research are fostering collaboration and capacity-building, and have already generated novel findings. Many challenges remain for genetics research in these populations, but addressing them provides opportunities to obtain a more complete and equitable understanding of Parkinson's disease globally. These advances facilitate the integration of genetics into the clinic, to improve patient management and personalised medicine., Competing Interests: Declaration of interests SYL is an employee at the University of Malaya. SYL has received stipends from the International Parkinson and Movement Disorder Society (MDS) as Chair of the Asian-Oceanian Section, and Science Advances as Associate Editor (Neuroscience). He reports consultancies from the Michael J Fox Foundation (MJFF), the Aligning Science Across Parkinson's-Global Parkinson's Genetics Program (ASAP-GP2), and Neurotorium Editorial Board; honoraria for lecturing from the MDS, Lundbeck, Eisai, and Medtronic; and research grants from the Malaysian Ministry of Education Fundamental Research Grant Scheme and the MJFF. AHT is an employee at the University of Malaya. AHT has received grants from and served as a consultant for the MJFF and the ASAP-GP2. AHT has received honoraria for lecturing from the MDS and Boehringer Ingelheim. NUO is employed by the College of Medicine, University of Lagos and receives institutional research grant support from the ASAP-GP2, the MJFF, and the UK National Institute for Health and Care Research for Parkinson's disease research including Parkinson's disease genetics studies. NUO has received honoraria as speaker from the MDS. HRM is employed by University College London. HRM reports paid consultancy from Roche, Aprinoia, AI Therapeutics, and Amylyx; lecture fees and honoraria from the British Medical Journal, Kyowa Kirin, and the MDS; research grants from Parkinson's UK, the Cure Parkinson's Trust, PSP Association, Medical Research Council, and the MJFF. HRM is a co-applicant on a patent application related to C9ORF72 (method for diagnosing a neurodegenerative disease; PCT/GB2012/052140). IM reports receiving research grants from the National Institutes of Health (1R01NS112499), the MJFF, and the ASAP-GP2. IM is also a member of the MDS-PAS Executive Committee and the PDGENEration Latino Advisory Council from the Parkinson's Foundation and has received honoraria as speaker from the MDS. LML reports receiving support from the Bachmann-Strauss Dystonia & Parkinson Foundation as part of a research fellowship. She also received a travel stipend to attend the Samuel Belzberg Dystonia Symposium in 2023. JNF is an employee at Nanyang Technological University Singapore, and received the National Medical Research Council Open Fund Individual Research Grant (MOH-000559) and the Ministry of Education Academic Research Funds (MOE-T2EP30220-0005 and MOE-MOET32020-0004). ES is employed by the University of Dundee, UK and has received research funding from the MJFF, the Chief Scientist Office in Scotland, and UK Research and Innovation Medical Research Council. AJN is employed by Queen Mary University of London. AJN reports grants from Parkinson's UK, Barts Charity, Cure Parkinson's, National Institute for Health and Care Research, Innovate UK, Solvemed, the Medical College of Saint Bartholomew's Hospital Trust, Alchemab, and the MJFF. AJN reports consultancy and personal fees from AstraZeneca, AbbVie, Profile, Bial, Charco Neurotech, Alchemab, Sosei Heptares, Umedeor, and Britannia, outside the submitted work. AJN has share options in Umedeor. WL reports research grants from the National Natural Science Foundation of China and the Science Technology Department of Zhejiang Province, China. RO has received travel grants from the MDS in 2022 and 2023, and received a research grant in 2022 and travel support to attend the annual GP2 meeting in 2022 and 2023 from ASAP-GP2. ABS is employed by the National Institutes of Health. He has received grants from the MJFF, and is a member of the scientific advisory board of Cajal Neuroscience. CB is a federal employee of the National Institutes of Health (NIH) USA, specifically the National Institute on Aging. He reports receiving research grants from the MJFF and ASAP-GP2. CK is the recipient of research grants from the German Research Foundation, ASAP-GP2, and the MJFF. CK has received travel grants and faculty honoraria from the MDS, and stipends as Deputy Editor of Movement Disorders and Science Advances, as well as a member of the Science Committee of the Else Kroener Fresenius Foundation. CK serves as a medical advisor to Centogene, Takeda, and Retromer Therapeutics, and has received speakers' honoraria from Bial and Desitin. AAA, KL, TST, YWT, SBC, JCEO, and NB declare no competing interests., (Copyright © 2024 Elsevier Ltd. All rights reserved, including those for text and data mining, AI training, and similar technologies.)

Long COVID, also called post-acute sequelae of SARS-CoV-2 infection (PASC) affects millions of people in the world. The neurologic manifestations of PASC (Neuro-PASC) are among the most debilitating but they are largely unreported in Africa. We sought to compare the demographics, symptoms and cognitive profile of post-hospitalization Neuro-PASC (PNP) and non-hospitalized Neuro-PASC (NNP) patients in Nigeria. In this cross-sectional study performed at the Lagos University Teaching Hospital, 106/2319 (4.6%) SARS-CoV-2 positive individuals contacted via telephone reported Neuro-PASC symptoms with a higher frequency in PNP than in NNP individuals ((23/200 (11.5%) vs. 83/2119 (3.9%), p = < 0.0001). The predominant neurologic symptoms at any time during the disease course were difficulty remembering / brain fog (63/106; 59.4%), fatigue (59/106; 55.7%), sleep problems (34/106; 32%), headache (33/106; 31%), paresthesia (12/106; 11.3%), and myalgia (10/106; 9.4%). Of 66 participants with Neuro-PASC who underwent in-person neurological evaluation and cognitive screening, all had normal scores on the Intervention for Dementia in Elderly Africans cognition screen, while 11/65 (16.9%) that completed the Montreal Cognitive Assessment had results consistent with mild cognitive impairment (3/16 PNP (18.8%) and 8/49 NNP (16.3%); p = 1.0). Finally, 47/66 (71.2%) had digit span test scores consistent with mild cognitive dysfunction (12/16 PNP (75%) and 35/50 (70%) NNP; p = 1.0). Our findings reveal the previously unrecognized occurrence of Neuro-PASC among COVID-19 survivors in Nigeria and highlight the need for improved screening and diagnosis of Neuro-PASC in our population. Development of cognitive support services for persons suffering from Neuro-PASC in Nigeria is warranted., (© 2024. The Author(s) under exclusive licence to The Journal of NeuroVirology, Inc.)

Two of every three persons living with dementia reside in low- and middle-income countries (LMICs). The projected increase in global dementia rates is expected to affect LMICs disproportionately. However, the majority of global dementia care costs occur in high-income countries (HICs), with dementia research predominantly focusing on HICs. This imbalance necessitates LMIC-focused research to ensure that characterization of dementia accurately reflects the involvement and specificities of diverse populations. Development of effective preventive, diagnostic, and therapeutic approaches for dementia in LMICs requires targeted, personalized, and harmonized efforts. Our article represents timely discussions at the 2022 Symposium on Dementia and Brain Aging in LMICs that identified the foremost opportunities to advance dementia research, differential diagnosis, use of neuropsychometric tools, awareness, and treatment options. We highlight key topics discussed at the meeting and provide future recommendations to foster a more equitable landscape for dementia prevention, diagnosis, care, policy, and management in LMICs. HIGHLIGHTS: Two-thirds of persons with dementia live in LMICs, yet research and costs are skewed toward HICs. LMICs expect dementia prevalence to more than double, accompanied by socioeconomic disparities. The 2022 Symposium on Dementia in LMICs addressed advances in research, diagnosis, prevention, and policy. The Nairobi Declaration urges global action to enhance dementia outcomes in LMICs., (© 2024 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.)

Background: Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South-Africa specific to indigenous Africans., Objective: We aimed to investigate the CAG trinucleotide repeats expansion in the Htt gene in a geographically diverse cohort of patients with chorea and unaffected controls from sub-Saharan Africa., Methods: We evaluated 99 participants: 43 patients with chorea, 21 asymptomatic first-degree relatives of subjects with chorea, and 35 healthy controls for the presence of the mHtt. Participants were recruited from 5 African countries. Additional data were collected from patients positive for the mHtt gene; these included demographics, the presence of psychiatric and (or) cognitive symptoms, family history, spoken languages, and ethnic origin. Additionally, their pedigrees were examined to estimate the number of people at risk of developing HD and to trace back the earliest account of the disease in each region., Results: HD cases were identified in all countries. Overall, 53.4% of patients with chorea were carriers for the mHTT; median tract size was 45 CAG repeats. Of the asymptomatic relatives, 28.6% (6/21) were carriers for the mHTT; median tract size was 40 CAG. No homozygous carries were identified. Median CAG tract size in controls was 17 CAG repeats. Men and women were equally affected by HD. All patients with HD-bar three who were juvenile onset of <21 years-were defined as adult onset (median age of onset was 40 years). HD transmission followed an autosomal dominant pattern in 84.2% (16/19) of HD families. In familial cases, maternal transmission was higher 52.6% (10/19) than paternal transmission 36.8% (7/19). The number of asymptomatic individuals at risk of developing HD was estimated at ten times more than the symptomatic patients. HD could be traced back to the early 1900s in most African sites. HD cases spread over seven ethnic groups belonging to two distinct linguistic lineages separated from each other approximately 54-16 kya ago: Nilo-Sahara and Niger-Congo., Conclusion: This is the first study examining HD in multiple sites in sub-Saharan Africa. We demonstrated that HD is found in multiple ethnic groups residing in five sub-Saharan African countries including the first genetically confirmed HD cases from Guinea and Kenya. The prevalence of HD in the African continent, its associated socio-economic impact, and genetic origins need further exploration and reappraisal., (© 2024 The Authors. Annals of Human Genetics published by University College London (UCL) and John Wiley & Sons Ltd.)

Background: Rapid eye movement (REM) sleep behavior disorder (RBD) is an early feature of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Damaging coding variants in Glucocerebrosidase (GBA1) are a genetic risk factor for RBD. Recently, a population-specific non-coding risk variant (rs3115534) was found to be associated with PD risk and earlier onset in individuals of African ancestry., Objectives: We aimed to investigate whether the GBA1 rs3115534 PD risk variant is associated with RBD in persons with PD., Methods: We studied 709 persons with PD and 776 neurologically healthy controls from Nigeria. All DNA samples were genotyped and imputed, and the GBA1 rs3115534 risk variant was extracted. The RBD screening questionnaire (RBDSQ) was used to assess symptoms of possible RBD., Results: RBD was present in 200 PD (28.2%) and 51 (6.6%) controls. We identified that the non-coding GBA1 rs3115534 risk variant is associated with possible RBD in individuals of Nigerian origin (β, 0.3640; standard error [SE], 0.103, P = 4.093e-04), as well as in all samples after adjusting for PD status (β, 0.2542; SE, 0.108; P = 0.019) suggesting that although non-coding, this variant may have the same downstream consequences as GBA1 coding variants., Conclusions: Our results indicate that the non-coding GBA1 rs3115534 risk variant is associated with an increasing number of RBD symptoms in persons with PD of Nigerian origin. Further research is needed to assess if this variant is also associated with polysomnography-defined RBD and with RBD symptoms in DLB. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)

Background: An understanding of the genetic mechanisms underlying diseases in ancestrally diverse populations is an important step towards development of targeted treatments. Research in African and African admixed populations can enable mapping of complex traits, because of their genetic diversity, extensive population substructure, and distinct linkage disequilibrium patterns. We aimed to do a comprehensive genome-wide assessment in African and African admixed individuals to better understand the genetic architecture of Parkinson's disease in these underserved populations., Methods: We performed a genome-wide association study (GWAS) in people of African and African admixed ancestry with and without Parkinson's disease. Individuals were included from several cohorts that were available as a part of the Global Parkinson's Genetics Program, the International Parkinson's Disease Genomics Consortium Africa, and 23andMe. A diagnosis of Parkinson's disease was confirmed clinically by a movement disorder specialist for every individual in each cohort, except for 23andMe, in which it was self-reported based on clinical diagnosis. We characterised ancestry-specific risk, differential haplotype structure and admixture, coding and structural genetic variation, and enzymatic activity., Findings: We included 197 918 individuals (1488 cases and 196 430 controls) in our genome-wide analysis. We identified a novel common risk factor for Parkinson's disease (overall meta-analysis odds ratio for risk of Parkinson's disease 1·58 [95% CI 1·37-1·80], p=2·397 × 10 -14 ) and age at onset at the GBA1 locus, rs3115534-G (age at onset β=-2·00 [SE=0·57], p=0·0005, for African ancestry; and β=-4·15 [0·58], p=0·015, for African admixed ancestry), which was rare in non-African or non-African admixed populations. Downstream short-read and long-read whole-genome sequencing analyses did not reveal any coding or structural variant underlying the GWAS signal. The identified signal seems to be associated with decreased glucocerebrosidase activity., Interpretation: Our study identified a novel genetic risk factor in GBA1 in people of African ancestry, which has not been seen in European populations, and it could be a major mechanistic basis of Parkinson's disease in African populations. This population-specific variant exerts substantial risk on Parkinson's disease as compared with common variation identified through GWAS and it was found to be present in 39% of the cases assessed in this study. This finding highlights the importance of understanding ancestry-specific genetic risk in complex diseases, a particularly crucial point as the Parkinson's disease field moves towards targeted treatments in clinical trials. The distinctive genetics of African populations highlights the need for equitable inclusion of ancestrally diverse groups in future trials, which will be a valuable step towards gaining insights into novel genetic determinants underlying the causes of Parkinson's disease. This finding opens new avenues towards RNA-based and other therapeutic strategies aimed at reducing lifetime risk of Parkinson's disease., Funding: The Global Parkinson's Genetics Program, which is funded by the Aligning Science Across Parkinson's initiative, and The Michael J Fox Foundation for Parkinson's Research., Competing Interests: Declaration of interests DV, HI, HLL, KSL, CXA, and MAN's participation in this project was part of a competitive contract awarded to Data Tecnica International by the US National Institutes of Health (NIH) to support open science research. MAN also currently serves on the scientific advisory board for Character Biosciences and Neuron 23. KH is employed by 23andMe and holds stock or stock options in 23andMe. AS, MBM, PAJ, CB, KD, MJK, JJK, and PWC are employed by the NIH. AS also declares funding for the present work from the Michael J Fox Foundation (MJFF) and Aligning Science Across Parkinson's (ASAP); royalties for a diagnostic for stroke (unrelated to the current work); honoraria for associate editorial work for the journals Movement Disorders and npj Parkinson's Disease; and travel support from the Chan Zuckerberg Initiative to attend annual investigators’ meeting, MJFF to attend Parkinson's Progression Marker Initiative annual meeting, and Weill Cornell to give grand rounds. The spouse of AS is an employee of GeneDx. OOk, IE, HI, JHK, and DV declare funding from the NIH (1ZIA AG000534-04). HI also declares honoraria from GP2 for a steering committee meeting and from MJFF for a data community meeting. DGS declares support for the present work from ASAP (for the BLAAC-PD study); research support from the NIH (P50 108675), the MJFF, the Parkinson Foundation of the National Capital Area, the American Parkinson Disease Association, AbbVie, and Genentech; book royalties from McGraw Hill; consulting fees from AbbVie, Curium Pharma, F Hoffman-La Roche, Appello Pharma, and Blue Rock Therapeutics; participation on a data safety monitoring board or advisory board for Sanofi-Aventis, Theravance, and Alnylam Pharmaceuticals; being Deputy Editor of the journal Movement Disorders; and being Chair of the Scientific Advisory Board of the American Parkinson Disease Association. DAH declares support for the present work from the NIH, the MJFF, the CHDI Foundation, Parkinson's Foundation, Lundbeck, Uniqure, and Neurocrine. TX declares research funding from the MJFF, the American Parkinson's Disease Association, and the NIH; and consulting fees from Parkinson's Foundation and CVS Caremark. HH and JH declare research funding by the Medical Research Council (UK), the Wellcome Trust, the MSA Trust, NIHR University College London Hospitals Biomedical Research Centre (NIHR-BRC), the MJFF, the Fidelity Trust, the Rosetrees Trust, the Guarantors of Brain, SOLVE-RD, and the Dolby Family Fund. HRM declares support from the MJFF related to this work; grants not related to this work from PSP Association, CBD Solutions, Drake Foundation, and Cure Parkinson's Trust; consulting fees from Roche, Amylyx, and Aprinoia; speaker's honoraria from Kyowa-Kirin, the British Medical Journal, and the Movement Disorders Society; travel support from the MJFF and the Movement Disorders Society; and being on the advisory board for Cure PSP Association, the Association of British Neurologists Movement Disorders special interest group, and the Association of British Neurologists Neurogenetics advisory group. HRM is a co-applicant on a patent application related to C9ORF72—Method for diagnosing a neurodegenerative disease (PCT/GB2012/052140). ES declares funding for the present work from the US National Human Genome Research Institute (NHGRI) Intramural Research Program; grants from ASAP and MJFF; and a cooperative research and development agreement with Roche. EAS declares funding for the present work from the MJFF; and travel support from the MJFF. MND declares funding for the present work from MJFF; grant support from ASAP; speaker's honoraria from the Parkinson's Foundation; and is a member of the Parkinson's Foundation Gulf Coast advisory board. Z-HF declares salary support from the MJFF. OOOj declares a study grant from the NIHR; honoraria for educational courses from the International Parkinson and Movement Disorder Society (IPMDS); travel support from P2 for an annual investigators’ meeting and from the IPMDS for congress attendance; and is a member of the executive committee of the IPMDS. NUO declares a study grant from the NIHR; travel support and honoraria for educational courses from the IPMDS; and being Chair of the IPMDS Africa Section. UA declares a study grant from the NIHR. RA declares grant support from the NIH (U01HG010273, U19AG074865), the UK Royal Society and the African Academy of Sciences Future Leaders—African Independent Research (FLR/R1/191813, FCG/R1/201034), and the Global Brain Health Institute, Alzheimer's Association, and Alzheimer's Society UK (GBHI ALZ UK-21- 24204). TF declares speaker's honoraria from Roche; travel support from the Alzheimer's Association; and is a member of the Alzheimer's Disease International medical and scientific advisory panel. CB declares support from ASAP. KD declares a Japan Society for the Promotion of Science Research Fellowship. JJK declares participation in the graduate school programme for Queen Mary University London (London, UK). PAJ declares participation in the graduate school programme for University College London (London, UK). MBM declares participation in a summer internship at Genentech/Roche (unrelated to the current work). All other authors declare no competing interests., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Background: A research and training program (RTP) was carried out to build the capacity of faculty and improve the culture of research in the College of Medicine, University of Lagos (CMUL), Nigeria., Methods: Realist-guided mixed methods evaluation of the BRAINS project was carried out using secondary data generated during the 5-years (2015 - 2020) of project implementation. Capacity building workshops and mentored research activities targeted at faculty in the CMUL were conducted. Overall, 1,418 participants attended the workshops in batches. Among the participants, forty-five faculty received grants and were mentored by senior professionals (local & international) to conduct research. Data were extracted from all project-related documents including coursework biodata, workshop evaluation forms, quarterly project reports, and end- of-project reports, submitted by the mentees, minutes of meetings, and the proposal submitted for funding. It was in the form of continuous variables and prose (sentences & stories). Quantitative data were analysed with IBM SPSS statistics version 20. Mean knowledge score and mean difference was calculated, paired t-test was carried out using p < 0.05 to determine statistical significance. The prose was thematically analysed to generate themes and narratives. Both were subsequently combined for interpretation and used to refine the initial programme theory into an evidence-informed theory., Results: Twelve courses were deployed, and 1,418 participants (47.8% males and 52.2% females) from medical, nursing, and allied medical departments were trained. Eighty participants were trained in Responsible Conduct of Research and eighty-one on Manuscript Writing over three years. A comparison of the pre/post-test knowledge scores showed a positive mean difference. Thematic analysis of workshop data produced three thematic domains representing effectiveness and gains namely: cognitive, reward, and behavioural. 45 trainees were awarded grants and mentored, and analysis of mentee's data generated 4 themes: Achieving a robust mentoring program; Benefits of the mentoring program; Resilience in research; Improving the mentoring program., Conclusion: By contributing to the body of knowledge available on RTPs, this evaluation identified key components that contributed to the success of the project and developed a model for achieving a robust training and mentoring program which can be replicated in other LMICs., (© 2023. The Author(s).)

Introduction and Objective: Telemedicine has reinforced its position as a means for the continuity of healthcare services and a cost-effective approach to improving health equity as demonstrated during the COVID-19 pandemic. The preparedness of health systems for telemedicine is an indicator of the scalability of their services, especially during catastrophes. We aimed to assess the maturity and preparedness of federally funded tertiary health institutions in Nigeria, to deploy telemedicine as such data are currently lacking and are required to drive improvements in health services delivery., Methods: We conducted a cross-sectional survey of thirty randomly selected federally funded tertiary health institutions in Nigeria using the Pan American Health Organization's tool for assessing the maturity level of health institutions to implement telemedicine between 17 September 2020 and 1 September 2021. Descriptive statistics were used for overall maturity levels and non-parametric tests to compare scores for overall maturity and specific Pan American Health Organization domains per region. The level of significance was set at p -value <0.05., Results: The response rate was 77.4% (24 of 30 randomly polled federally funded tertiary health institutions responded). Overall, the median telemedicine maturity level was 2.0 (1.75) indicating a beginner level. No significant inter-zonal difference in the median overall maturity level ( p  = 0.87). The median maturity levels for telemedicine readiness in specific domains were organizational readiness - 2.0 (2.0), processes 1.0 (1.0), digital environment 2.0 (3.0), human resources 2.0 (1.0), regulatory issues - 1.5 (1.0) and expertise 2.0 (2.0); mostly at beginner level, with no inter-zonal differences. Most participating institutions had no initiatives in place for domains of processes and regulatory issues., Conclusions: The current telemedicine maturity level of federally funded tertiary health institutions in Nigeria is at the beginner level. This behoves policy-makers to advance the implementation and deployment of telemedicine nationwide as part of digital quality healthcare, to improve health equity and to ensure continuity of healthcare services in the event of another pandemic., Competing Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2023.)

The relationship between APOE polymorphisms and Parkinson's disease (PD) in black Africans has not been previously investigated. We evaluated the association between APOE polymorphic variability and self-declared cognition in 1100 Nigerians with PD and 1097 age-matched healthy controls. Cognition in PD was assessed using the single item cognition question (item 1.1) of the MDS-UPDRS. APOE genotype and allele frequencies did not differ between PD and controls (p > 0.05). No allelic or genotypic association was observed between APOE and age at onset of PD. In PD, APOE ε4/ε4 conferred a two-fold risk of cognitive impairment compared to one or no ε4 (HR: 2.09 (95% CI: 1.13-3.89; p = 0.02)), while APOE ε2 was associated with modest protection against cognitive impairment (HR: 0.41 (95% CI 0.19-0.99, p = 0.02)). Of 773 PD with motor phenotype and APOE characterized, tremor-dominant (TD) phenotype predominated significantly in ε2 carriers (87/135, 64.4%) compared to 22.2% in persons with postural instability/gait difficulty (PIGD) (30/135) and 13.3% in indeterminate (ID) (18/135, 13.3%) (p = 0.037). Although the frequency of the TD phenotype was highest in homozygous ε2 carriers (85.7%), the distribution of motor phenotypes across the six genotypes did not differ significantly (p = 0.18). Altogether, our findings support previous studies in other ethnicities, implying a role for APOE ε4 and ε2 as risk and protective factors, respectively, for cognitive impairment in PD., (© 2022. The Author(s).)

In spite of the increasing epidemic of pharmaceutical opioids (codeine and tramadol) misuse and abuse among the adolescents, little is known about the neurotoxic consequences of the widespread practice of tramadol and codeine abuse involving increasing multiple doses across days, referred to as stacking and boosting. Hence, in this study, we replicated stacking and boosting doses of tramadol, codeine alone, or in combination on spontaneous motor activity and cognitive function in adolescent mice and adduced a plausible mechanism of possible neurotoxicity. Ninety-six adolescent mice were randomly distributed into 4 groups (n = 24 per group) and treated thrice daily for 9 days with vehicle, tramadol (20, 40, or 80 mg/kg), codeine (40, 80, or 160 mg/kg), or their combinations. Exposure of mice to tramadol induced hyperactivity and stereotypic behavior while codeine exposure caused hypoactivity and nootropic effect but tramadol-codeine cocktail led to marked reduction in spontaneous motor activity and cognitive function. In addition, tramadol, codeine, and their cocktail caused marked induction of nitroso-oxidative stress and inhibition of mitochondrial complex I activity in the prefrontal cortex (PFC) and midbrain (MB). Real-time PCR expression profiling of genes encoding neurotoxicity (RT) showed that tramadol exposure upregulate 57 and downregulate 16 neurotoxic genes, codeine upregulate 45 and downregulate 25 neurotoxic genes while tramadol-codeine cocktail upregulate 52 and downregulate 20 neurotoxic genes in the PFC. Findings from this study demonstrate that the exposure of adolescents mice to multiple and increasing doses of tramadol, codeine, or their cocktail lead to spontaneous motor coordination deficits indicative of neurotoxicity through induction of oxidative stress, inhibition of mitochondrial complex I activity and upregulation of neurotoxicity encoding genes in mice., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Sex disparities in blood pressure and anthropometry may account for differences in cardiovascular (CV) risk burden with advancing age; modulated by ethnic variability. We explored trajectories of blood pressures (BPs) and anthropometric indices with age on the basis of sex in an urban Nigerian population., Methods: We conducted a secondary analysis on data from 5135 participants (aged 16-92 years; 2671(52%) females) from our population-based cross-sectional study of BP profiles. We utilized the WHO STEPS and standardized methods for documenting BPs, body mass index (BMI) and waist circumference (WC). Data was analyzed using Analysis of variance (ANOVA), Spearman correlation analysis and mean difference in variables (with 95% confidence interval). We explored the influence of age and sex on BP profiles and specific anthropometric indices using generalized regression analysis., Results: In those aged 15-44 years, males had significantly higher systolic BP (SBP) and pulse pressure (PP). However, mean SBP and PP rose more steeply in females from 25 to 34 years, intersected with that of males from 45 to 54 years and remained consistently higher. Difference in mean BPs (95% Confidence Interval) (comparing < and > 45 years) was higher in females compared to males for SBP (17.4 (15.8 to 19.0) v. 9.2 (7.7 to 10.7), DBP (9.0 (7.9 to 10.1) v. 7.8 (6.7 to 8.9)), and PP (8.4 (7.3 to 9.5) v. 1.4 (0.3 to 2.5)). Females had significantly higher BMI and WC across all age groups (p < 0.001). Age more significantly correlated with BPs, BMI and WC in females. Interaction models revealed that SBP was significantly predicted by age category in females from (15-54 years), while DBP was only significantly predicted by age in the 15-34-year category (p < 0.01). BMI and WC were significantly predicted by age only in the 25-34-year category in females, (p < 0.01)., Conclusions: Our population demonstrates sex disparity in trajectories of SBP, PP, BMI and WC with age; with steeper rise in females. There is a need to focus on CV risk reduction in females, starting before, or during early adulthood., (© 2022. The Author(s).)

Background: The COVID-19 pandemic outbreak has dramatically disrupted healthcare systems. Two rapid WHO pulse surveys studied disruptions in mental health services, but did not particularly focus on neurology. Here, a global survey was conducted and addresses the impact of the pandemic on neurology services., Methods: A cross-sectional study was carried out in which 34 international neurological associations were asked to distribute the survey to national associations. The responses represented the national situation, in November-December 2020, with regard to the main disrupted neurological services, reasons and the mitigation strategies implemented as well as the disruption on training of residents and on neurological research. A comparison with the situation in February-April 2020, first pandemic wave, was also requested., Findings: 54 completed surveys came from 43 countries covering all the 6 WHO regions. Overall, neurological services disruption was reported as mild by 26%, moderate by 30%, complete by 13% of associations. The most affected services were cross-sectoral neurological services (57%) and neurorehabilitation (56%). The second wave of the pandemic, however, was associated with the improvement of service provision for diagnostics services (44%) and for neurorehabilitation (41%). Governmental directives were the major cause of services' disruption (56%). Mitigation strategies were mostly established through telemedicine (48%). Almost half of respondents reported a significant impact on neurological research (48%) and educational activities (60%). Most associations (67%) were not involved in decision making for neurological patients' issues by their national government., Interpretation: The COVID-19 pandemic affects neurological services and raises the universal need for the development of neurological health care at the policy, systems and services levels. A global national plan on mitigation strategies for disruption of neurological services during pandemic situations should be established and neurological scientific and patients associations should get involved in decision making., (© 2021. Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: The COVID-19 pandemic leads to disruptions of health services worldwide. To evaluate the particular impact on neurological services a rapid review was conducted., Methods: Studies reporting the provision of neurological services during the pandemic and/or adopted mitigation strategies were included in this review. PubMed and World Health Organization's (WHO) COVID-19 database were searched. Data extraction followed categories used by WHO COVID-19 pulse surveys and operational guidelines on maintaining essential health services during COVID-19., Findings: The search yielded 1101 articles, of which 369 fulfilled eligibility criteria, describing data from 210,419 participants, being adults (81%), children (11.4%) or both (7.3%). Included articles reported data from 105 countries and territories covering all WHO regions and World Bank income levels (low income: 1.9%, lower middle: 24.7%, upper middle: 29.5% and high income; 44.8%). Cross-sectoral services for neurological disorders were most frequently disrupted (62.9%), followed by emergency/acute care (47.1%). The degree of disruption was at least moderate for 75% of studies. Travel restrictions due to lockdowns (81.7%) and regulatory closure of services (65.4%) were the most commonly reported causes of disruption. Authors most frequently described telemedicine (82.1%) and novel dispensing approaches for medicines (51.8%) as mitigation strategies. Evidence for the effectiveness of these measures is largely missing., Interpretation: The COVID-19 pandemic affects all aspects of neurological care. Given the worldwide prevalence of neurological disorders and the potential long-term neurological consequences of COVID-19, service disruptions are devastating. Different strategies such as telemedicine might mitigate the negative effects of the pandemic, but their efficacy and acceptability remain to be seen., (© 2021. The Author(s).)

Background: Data on non-motor symptoms (NMS) in black Africans with Parkinson's disease (PD) are sparse., Objective: To describe the profile of NMS in the Nigeria PD Registry (NPDR) cohort and explore the relationship between NMS and PD motor phenotype., Methods: We conducted a cross-sectional study of the frequency and burden of NMS, based on the non-motor symptoms scale (NMSS) and the Chaudhuri method respectively in our cohort. Baseline demographics, disease characteristics (Hoehn and Yahr stage, MDS-UPDRS total score and Part III motor score), motor phenotype (based on Stebbin et al's algorithm), and levodopa equivalent daily dose (LEDD) were documented., Results: Data are presented for 825 PD whose mean age at study was 63.7 ± 10.1 years, female sex-221 [26.8%] while median PD duration was 36 months. PD phenotypes included tremor-dominant 466 (56.5%), postural instability and gait disorder (PIGD) 259 (31.4%), and indeterminate 100 (12.1%). 82.6% were on treatment (median LEDD of 500 mg/24 hours). 804 (97.5%) endorsed at least 1 NMS. The median NMSS score was 26.0 while subscores for urinary and sexual function domains were significantly higher in males ( P  < 0.05). PIGD-PD had more frequent NMS and higher frequency of severe/very severe NMSS burden ( P  = 0.000 for both). Nocturia and fatigue were the most prevalent NMS overall and across motor subtypes. PIGD phenotype and total UPDRS scores were the independent determinants of NMSS scores ( P  = 0.000)., Conclusion: The profile and burden of NMS, and association with motor subtype in our black African cohort is largely similar to descriptions from other populations., Competing Interests: There was no source of funding for this study and all authors have no conflicts of interest to declare., (© 2021 International Parkinson and Movement Disorder Society.)

Background: The growing burden of Parkinson's disease (PD) in Africa necessitates the identification of available therapies and services to improve patient care., Objective: To investigate the availability, affordability, frequency of usage, and insurance coverage of PD therapies (pharmacological, surgical, physical, and speech therapies) and services including specialized clinics, specialists, and nurses across Africa., Methods: A comprehensive web-based survey was constructed and distributed to neurologists/physicians with a special interest in PD across Africa. The survey instrument includes components that address availability, affordability, frequency of use, and insurance coverage of different therapies and services., Results: Responses were received from 28 (of 43 contacted) countries. Levodopa-based oral preparations were always available in 13 countries (46.4%) with variable affordability and "partial or no" insurance coverage in 60% of countries. Bromocriptine was the most available (50%) and affordable ergot dopamine agonists (DA), whereas non-ergot DA was always available in only six countries (21.4%). Trihexyphenidyl was the most available and affordable anticholinergic drug (46.4%). Tricyclic antidepressants and selective serotonin reuptake inhibitors were available in most countries (89.3% and 85.7% respectively), with variable affordability. Quetiapine and clozapine were less available. Specialized clinics and nurses were available in 25% and 7.1% of countries surveyed, respectively. Other services were largely unavailable in the countries surveyed., Conclusion: PD-specific therapies and services are largely unavailable and unaffordable in most African countries. The data provide a platform for organizing strategies to initiate or scale up existing services and drive policies aimed at improving access to care and tailoring education programs in Africa. © 2021 International Parkinson and Movement Disorder Society., (© 2021 International Parkinson and Movement Disorder Society.)

Leucine-rich repeat kinase 2 (LRRK2) gene mutations are the most common genetic cause of Parkinson's disease (PD). More than 300 rare LRRK2 variants have been described, with approximately 17 having confirmed or probable pathogenic role in PD. The distribution differs across ethnic groups, but no PD-related LRRK2 pathogenic variant has been described in persons of Black African ancestry within or outside Africa. We previously reported the absence of LRRK2 p.Gly2019Ser mutation in 126 PD and 55 controls from Nigeria. Using Kompetitive Allele Specific Polymerase Chain Reaction, we screened a new cohort of 92 Nigerians with PD and 210 ethnically matched controls for 12 rare LRRK2 variants shown to be pathogenic in other ethnic populations, including p.Gly2019Ser, p.Arg1441His, p.Gly2385Arg, p.Ala419Val, p.Arg1628Pro, p.Pro755Leu, p.Ile2020Thr, and Tyr1699Cys. All were absent in PD and controls, endorsing our previous findings and confirming that rare LRRK2 pathogenic variants reported in Caucasians, Asians, and persons of mixed ancestry are absent in West Africans. Future studies applying next generation sequencing are necessary to explore novel LRRK2 variants indigenous to Black Africans., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Adverse cardiovascular outcomes are linked to higher burden of obesity and hypertension. We conducted a secondary analysis of data for 5135 participants aged ≥ 16 years from our community-based hypertension prevalence study to determine the prevalence of obesity and association between multiple anthropometric indices and blood pressure (BP). The indices were waist circumference (WC), body mass index (BMI), waist-to-height ratio (WHtR), waist-to-hip ratio (WHR), a body shape index(ABSI), abdominal volume index (AVI), body adiposity index (BAI), body roundness index (BRI), visceral adiposity index (VAI) and conicity index (CI). We performed statistical analyses to determine the association, predictive ability, cutoff values and independent determinants of hypertension. Crude prevalence of obesity was 136 per 1000 (95% confidence interval 126-146). BMI had the strongest correlation with systolic and diastolic BP (r s  = 0.260 and 0.264, respectively). Indices of central adiposity (AVI, WC, WHtR, BRI) were the strongest predictors of hypertension (≥ 140/90 mmHg), and their cut-off values were generally higher in females than males. WHR, age, BMI and CI were independent determinants of hypertension ≥ 140 mmHg (p < 0.05). We conclude that, based on this novel study, measures of central adiposity are the strongest predictors and independent determinants of hypertension in our population, and cut-off values vary from previously recommended standards.

Hypertension remains the dominant cardiovascular risk factor worldwide. May Measurement Month (MMM) is an annual global programme of the International Society of Hypertension aimed at screening for undetected hypertension in the general population. We report the outcome of MMM 2018 in Nigeria. An opportunistic screening of adults aged at least 18 years was conducted in the six geopolitical zones of Nigeria in the month of May, 2018. Screening for hypertension was done by trained volunteers with the use of validated digital and mercury sphygmomanometers following the MMM protocol. Hypertension was defined as blood pressure (BP) ≥140/90 mmHg or the use of BP-lowering medication. There were 6398 participants (53.0% female) with a mean (SD) age of 41.7 (15.0) years. Hypertension was present in 36.4% of the participants with 51.1% of the hypertensives aware of their status, 41.8% on medication, of whom 43.1% were controlled. Overall, only 18.0% of all hypertensive participants had their BP under control. The proportion with hypertension is high, and awareness, treatment, and control rates are low. Concerted efforts are needed to improve awareness and treatment of hypertension in Nigeria in order to reduce the high rate of complications associated with uncontrolled BP., (Published on behalf of the European Society of Cardiology. © The Author(s) 2020.)

Background: Clinical disease registries are useful for quality improvement in care, benchmarking standards, and facilitating research. Collaborative networks established thence can enhance national and international studies by generating more robust samples and credible data and promote knowledge sharing and capacity building. This report describes the methodology, baseline data, and prospects of the Nigeria Parkinson Disease Registry., Methods: This national registry was established in November 2016. Ethics approval was obtained for all sites. Basic anonymized data for consecutive cases fulfilling the United Kingdom Parkinson's Disease Brain Bank criteria (except the exclusion criterion of affected family members) are registered by participating neurologists via a secure registry website (www.parkinsonnigeria.com) using a minimal common data capture format., Results: The registry had captured 578 participants from 5 of 6 geopolitical zones in Nigeria by July 2019 (72.5% men). Mean age at onset was 60.3 ± 10.7 years; median disease duration (interquartile range) was 36 months (18-60.5 months). Young-onset disease (<50 years) represented 15.2%. A family history was documented in 4.5% and 7.8% with age at onset <50 and ≥ 50, respectively. The most frequent initial symptom was tremor (45.3%). At inclusion, 93.4% were on treatment (54.5% on levodopa monotherapy). Per-capita direct cost for the registry was $3.37., Conclusions: This is the first published national Parkinson's disease registry in sub-Saharan Africa. The registry will serve as a platform for development of multipronged evidence-based policies and initiatives to improve quality of care of Parkinson's disease and research engagement in Nigeria. © 2020 International Parkinson and Movement Disorder Society., (© 2020 International Parkinson and Movement Disorder Society.)

Background: A defining feature of any university is its dedication to scholarly activities, leading to the generation of knowledge and ideas Research productivity is a measure of achievement of a scholar. The number of research publications in peer-reviewed journals is an important criterion for assessing productivity and prestige in the academia., Aims and Objectives: This cross-sectional descriptive study assessed the level of research productivity (RP) among junior faculty at the College of Medicine, University of Lagos, and investigated factors affecting their research output prior to the implementation of a 5-year training grant funded by the National Institutes of Health., Methods: Seventy junior faculty members attended a pre-program training, and the self-reported number of peer-reviewed publications (PRPs) was used as an indicator. Intrinsic and extrinsic factors influencing RP among the attendees were assessed and ranked., Results: The majority (42/70, 60%) of the respondents had <10 PRPs. The median (interquartile range) number of PRPs was 7 (3-18). A desire for the development of their personal skills, contribution to society, and personal research interests topped the list of intrinsic factors influencing RP. Work flexibility, research autonomy, and scholarly pursuits were the bottom three. A desire for promotion, respect from peers, and increased social standing were the top three extrinsic factors, while monetary incentives, employment opportunities, and the need to attend conferences were the lowest three. The top barriers to RP were lack of resources and lack of mentoring. Perceived older age, lack of time, and motivation were the lowest three barriers. Older age and professional cadre were associated with increased RP (P < 0.05)., Conclusion: Among the participants, research output appears to be motivated primarily by a desire for personal development,promotion, and respect from peers. Lack of access to resources was the main barrier to increased RP. These factors may need to be considered when developing programs designed to promote RP., Competing Interests: None

Background: Availability of validated Parkinson's disease (PD) questionnaires in languages spoken in Africa will enable the conduct of epidemiological studies., Objective: The aims of the current study were to develop cross-cultural translated and validated Arabic and French versions of a PD screening questionnaire, and determine its diagnostic accuracy for recognition of parkinsonism in early and moderate-advanced PD in three countries (Cameroon (French), Egypt (Arabic), and Nigeria (English))., Methods: This cross-sectional study screened 159 participants (81 PD and 78 controls) using the PD screening questionnaire. The questionnaire was translated into Arabic and French versions using standard protocols. Cognitive function was assessed using the Montreal Cognitive Assessment and the Identification and Intervention for Dementia in Elderly Africans cognitive screen. Co-morbidity burden was documented using the Charlson Comorbidity Index. PD severity and stage were evaluated using the MDS Unified Parkinson Disease Rating Scale and the Hoehn and Yahr scale respectively., Results: Both PD patients and controls were matched regarding age, gender, education, and co-morbidity burden. The PD screening questionnaire scores were significantly higher in PD (median 8.0, IQR 6.0-10.0) in contrast to controls (0.0, IQR 0.0-0.0) (p < 0.0001), with a similar pattern and level of significance across all country sites. In ROC analysis, the questionnaire demonstrated high diagnostic accuracy for PD overall, with an AUC of 0.992 (95% CI 0.981-1.002)., Conclusion: The Arabic, French, and English versions of this PD screening questionnaire are valid and accurate screening instruments for recognition of Parkinsonism. This paves the way for conducting epidemiological studies in many African countries.

Background: Hypertension is the major risk factor for cardiovascular diseases and prevalence rates are critical to understanding the burden and envisaging health service requirements and resource allocation. We aimed to provide an update of the current prevalence of hypertension and blood pressure profiles of adults in urban Nigeria., Methods: Cross sectional population-based survey in Lagos, Nigeria. Participants were selected using stratified multistage sampling. Relevant sections of the World Health Organization STEPwise approach to chronic disease risk factor surveillance were utilized for data collection. Blood pressures were categorized based on both the current American College of Cardiology/American Heart Association (ACC/AHA) 2017 guidelines and the pre-existing Joint National Committee on Hypertension 7 (JNC7) (2003) categories., Results: There were 5365 participants (51.8% female), age range of 16-92 years, and mean age ± SD 37.6 ± 13.1. The mean ± SD systolic and diastolic blood pressures were 126.8 ± 18.6 and 80.6 ± 13.2 respectively. There was significant correlation between both systolic and diastolic blood pressures and age (Pearson correlation 0.372 and 0.357 respectively and p  = 0.000 in both instances). The prevalence of hypertension was 55.0% (3003) and 27.5% (1473) based on the ACC/AHA 2017 guideline and the JNC7 2003 guidelines respectively. Body mass index was positively correlated with systolic and diastolic BP (p = 0.000)., Conclusions: Over half of the adult population in this major Nigerian city are classified to have hypertension by the recent guideline. There is an urgent need to develop and implement strategies for primordial prevention of hypertension (and obesity) and to restructure our healthcare delivery systems to adequately cater for the current and emerging hypertensive population., Competing Interests: Ethical approval was obtained from the Lagos University Teaching Hospital (LUTH) Health Research Ethics Committee and all participants provided written informed consent.Not applicable.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

To date the LRRK2 p.G2019S mutation remains the most common genetic cause of Parkinson disease (PD) worldwide. It accounts for up to 6% of familial and approximately 1.5% of sporadic cases. LRRK2 has a kinase enzymatic domain which provides an attractive potential target for drug therapies and LRRK2 kinase inhibitors are in development. Prevalence of the p.G2019S has a variable ethnic and geographic distribution, the highest reported among Ashkenazi Jews (30% in patients with familial PD, 14% in sporadic PD, 2.0% in controls) and North African Berbers (37% in patients with familial PD, 41% in sporadic PD, and 1% in controls). Little is known about the frequency of the LRRK2 p.G2019S among populations in sub-Saharan Africa. Our group and others previously reported that the p.G2019S is absent in a small cohort of Nigerian PD patients and controls. Here we used Kompetitive Allele Specific PCR (KASP) assay to screen for the p.G2019S in a larger cohort of Black African PD patients (n = 126) and healthy controls (n = 54) from Nigeria. Our analysis confirmed that all patients and controls are negative for the p.G2019S mutation. This report provides further evidence that the LRRK2 p.G2019S is not implicated in PD in black populations from Nigeria and support the notion that p.G2019S mutation originated after the early human dispersal from sub-Saharan Africa. Further studies using larger cohorts and advance sequencing technology are required to underpin the genetic causes of PD in this region., Competing Interests: The authors have declared that no competing interests exist.

Background and Objectives: Limited access to medicines can impact negatively on outcomes in people with Parkinson's disease (PD). The study objectives were to determine the availability and assess the affordability of antiparkinsonian medications in pharmacies across Nigeria., Methods: This was a cross-sectional nationwide study utilizing the World Health Organization/Health Action Initiative methodology. Strategically selected private- and public-sector pharmacies in the six geopolitical zones of Nigeria were surveyed for availability of medicines for management of early and advanced PD. The nine categories were: levodopa/peripheral decarboxylase inhibitors, dopamine receptor agonists, monoamine oxidase type B inhibitors, anticholinergics, catechol-o-methyl transferase inhibitors, atypical antipsychotics, antidepressants, antidementia drugs, and miscellaneous (e.g., drugs for orthostatism, urinary incontinence, and sleep disturbance). Unaffordability was defined as paying more than 1 days' wages (>N600 or > US$1.67) for a standard 30-day supply., Results: One hundred twenty-three pharmacies were surveyed (62 private [50.4%] and 61 public sector [49.6%]; range of 15-25 pharmacies in each geopolitical zone). Private exceeded public-sector availability across all nine categories of PD medicines ( P  < 0.05). The most available medicines were dopamine receptor agonists (68.3%; predominantly ergot-derived bromocriptine), anticholinergics (56.1%; mainly trihexyphenidyl), and l-dopa formulations (48%; mainly 250/25 l-dopa/carbidopa). Only two medications (trihexyphenidyl tablets and biperiden injection) were affordable. The average number of day's minimum wages for a 30-day supply of PD medicines was 41.3 days (range, 1-371)., Conclusions: PD medicines access is limited in Nigeria. Strategies, including engagement of stakeholders to consider interventions to improve and prioritize PD medicines access, are urgently warranted.