Search

Background: Stroke is a common neurologic disease associated with fatal outcomes. Kidney dysfunction may be an important predictor of stroke severity and outcome., Aim: To determine the relationship between kidney dysfunction at admission and stroke severity and 30-day outcome., Materials and Methods: This was a prospective study that involved 150 stroke patients. Stroke severity at admission was assessed using the National Institutes of Health Stroke Scale (NIHSS). Renal dysfunction was assessed by the presence of albuminuria and or reduced glomerular filtration rate (GFR) at admission. Neurological outcome was assessed using mortality, modified Rankin Scale (mRS), and Glasgow Outcome Scale (GCS)., Results: The mean age of the study participants was 61.0 ± 13.2 years. Renal dysfunction was present in 66% of the participants while the case fatality rate of stroke was 26%. Poor neurological outcome at 30 days was found in 44.1% of survivors. Those with albuminuria had lower GCS (P = 0.041), lower GFR (P = 0.004), higher mRS score on day 14 (P = 0.041) and day 30 (P = 0.032), and higher NIHSS score (P = 0.034). Independent predictors of 30-day mortality were albuminuria (Adjusted Odd Ratio (AOR) 3.60, 95%CI: 1.07-12.17) and increasing NIHSS score (AOR = 1.15, 95%CI: 1.04-1.28). Lower GCS (P < 0.001), elevated white blood cells (P = 0.003), serum creatinine (P = 0.048), and NIHSS score (P < 0.001) were associated with poor neurological outcome. NIHSS score was the only significant predictor of neurologic outcome (AOR: 1.25; CI: 1.11-1.41; P ≤ 0.001)., Conclusions: Kidney dysfunction was associated with stroke severity and mortality. However, it was not an independent predictor of neurological outcome., (Copyright © 2023 Copyright: © 2023 Nigerian Journal of Clinical Practice.)

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.)

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).)

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: 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: Informal care giving can be burdensome particularly where the option of institutionalized informal care scarcely exist., Objective: To look at the burden of informal caregivers of stroke survivors using the Zarit burden interview (ZBI)., Method: 64 stroke survivors were assessed for demographics of age, gender, duration of follow-up since discharged from in-patient care, modified Rankin score at the time of discharge and at the time of evaluation for this study and the most important informal care giver at home was also assessed for whether care giving was telling on their health or life in any negative way. All the caregivers were subsequently assessed with the ZBI., Results: Mean age of most important informal care givers was 40.67 ± 14.27 years and the sex distribution was 33(51.6%) female and 29(45.4%) males. 21(32.8%) reported that caregiving was a health burden. Mean ZBI scores were significantly higher (30.19 ± 14.81 vs 20.30 ± 12.96, P < 0.01) in those that reported that caregiving was telling on their health. ZBI overall rating of burden of caregiving was also significantly associated with whether caregiving was telling on the health of caregiver (P = 0.01) and also symmetrically agreed with whether the burden of caregiving was telling on health (k = 0.33, P< 0.01). The sensitivity and specificity of ZBI were 70% and 68.4% respectively on ROC statistics (AUC = 0.67, P = 0.017)., Conclusion: Reported burden of informal caregiving of about 33% is in our opinion huge. The moderate sensitivity and specificity of the ZBI means it could be safely used in the population studied.

Introduction: Cognitive dysfunction is common among patients with human immunodeficiency virus (HIV) infection however there are few reports from sub-Saharan Africa., Methods: We studied fifty seropositive patients with human immunodeficiency virus (HIV) infection along with fifty matched seronegative control. Medical history taking and general physical and neurological examinations were done for all study participants. Laboratory evaluations and chest X-ray were done for all the patients. The cognitive function was done with the aid of 'Fepsy' automated test battery for all the study participants. The data was analyzed with statistical package for social sciences software version 21.0 (SPSS Chicago IL)., Result: About 70% of the HIV patients were in advanced disease stage. The auditory and visual reaction times, binary choice reaction times, and computerized visual scanning task time were more prolonged in the HIV group (p < 0.05). There were also increased memory accuracy and binary choice task accuracy in the HIV group (p < 0.05). However the vigilance task performance was similar between the two groups (p > 0.05). Among the patients with HIV infection, the presence of anemia and central nervous system toxoplasmosis infection was associated with prolonged auditory and visual reaction times., Conclusion: There was a high rate of cognitive dysfunction in patients with HIV infection in this study.

Neurocognitive impairment is a detrimental complication of HIV infection. Here, we characterized the intellectual performance of patients with newly diagnosed HIV infection in southwestern Nigeria. We conducted a prospective study at Owo Federal Medical Center by using the adapted Wechsler Adult Intelligence Scale (WAIS). The raw scores were converted to standardized scores (z-scores) and correlated with clinical and laboratory findings. Fifty-eight HIV positive patients were recruited; 72% were in WHO stages 3 and 4. We detected a high rate of intellectual impairment in HIV positive patients and controls (63.8% and 10%, resp.; P < 0.001). HIV positive patients performed worse throughout the subtests of both verbal and performance intelligence quotients. Presence of opportunistic infections was associated with worse performance in the similarities and digit symbol tests and performance and full scale scores. Lower body weight correlated with poor performance in different WAIS subtests. The high rate of advanced disease stage warrants measures aimed at earlier diagnosis and treatment. Assessment of neurocognitive performance at diagnosis may offer the opportunity to improve functioning in daily life and counteract disease progression.

Objective: To assess the risk of survival in acute stroke using the MDRD equation derived estimated glomerular filtration rate., Design: A prospective observational cross-sectional study., Setting: Medical wards of a tertiary care hospital., Subjects: Eighty three acute stroke patients had GFR calculated within 48 hours of admission after basic data were captured., Outcome Measures: Stroke outcome was defined as either discharged or still-in-care (survived) or all cause in-hospital death. GFR was estimated by the MDRD equation, stroke severity was assessed by the Canadian Neurological Scale (CNS). Data were compared between the GFR groups of < 60 ml/min and ≥ 60 ml/min. Relative risks (RR) and odds ratios (OR) for stroke outcomes (survival and death) were estimated between the GFR groups and the homogeneity of the odds ratios among the different layers of stroke severity (CNS < 6.5 and ≥ 6.5) was determined by Breslow-Day and Tarone's test. Matanel Hazensel and Cochran's tests were used to determine conditional independence and the common odds ratio with stroke severity as a layering variable., Results: No significant differences were found between the age and sex distribution of the two GFR groups. Serum urea and creatinine and CNS were significantly different between the GFR groups (p < 0.001, < 0.001, < 0.001). RR of survival and death for the GFR groups-less than 60 ml/min and above or equal to 60 ml/min were (0.425 and 1.204) and (2.360 and 0.830). The OR of survival for GFR below 60 ml/min compared to GFR above or equal to 60 ml/min was 0.353. There was homogeneity across the two layers of stroke severity (CNS score less than 6.5 and above or equal to 6.5), p = 0.612 and 0.612., Conclusion: Independent of stroke severity, GFR is a surrogate in the assessment of the risk of survival in acute stroke.

Objective: To validate the use of a simple stroke scoring tool in the clinical diagnosis of intracerebral haemorrhage (ICH)., Design: Prospective observational study ., Methods: 184 patients with acute stroke were consecutively evaluated within 24 hours of admission with a simple clinical tool- Benin Stroke Score (BSS), designed to diagnose ICH before cranial Computed tomography (CT) scans were done and the results were compared with CT findings as the gold standard. BSS is a simple 3-item tool with a minimum score of 0 and a maximum score of 3.5, that scores age, Glasgow Coma Scale (GCS) and pre-intervention admission diastolic blood pressure on an assigned score of either 0 or 1 and up to 1.5 for diastolic blood pressure. A model was devised and the accuracy was tested on a receiver operated characteristics (ROC) curve. Intra-rater and inter- rater reliability were tested with Pearson's correlation. BSS and CT were compared with kappa statistics., Results: (1) BSS cut-off value of 2.5 and above was positive for ICH with sensitivity, specificity, positive and negative predictive values and likelihood ratio of 70.20%, 89.00%, 74.10%, 87.00% and 6.38 (AUC of ROC curve = 0.847, p < 0.001). (2) The inter-rater and intra-rater reliability coefficients of BSS were, r =0.90, 0.95 and 0.95 (p < 0.001, <0.001 and < 0.001) respectively. (3) BSS agreed with cranial CT findings in 60% of cases (p < 0.001)., Conclusion: BSS is a simple 3-item tool with a reliable level of accuracy that could be used early after admission in the clinical diagnosis of ICH where neuroimaging is not available.

Background: Headache is a common complaint in general practice and it is known that most headaches are primary and that the yield of neuroimaging like cranial computed tomography (CT) in headache is generally low. In this study, we were able to demonstrate that the yield of neuroimaging in non-acute and recurrent headache could be higher if cases are reviewed first by a specialist Neurologist before cranial CT., Method: Seventy-four cases that were referred to the specialist neurology clinic with complaints of chronic and recurrent headaches without focal neurological deficit that had CT scan were reviewed consecutively using the short form of the International Classification of Headache Disorders second edition (ICHD 2) criteria after their demographics of age, sex were captured, to find out the proportion and characteristics of study cases that had identifiable cranial lesions on cranial CT scan. All cases were reviewed by a specialist Neurologist before CT scan and all CT films were reviewed by a specialist Radiologist. Age, sex and the distribution of CT findings were described from a frequency table and mean age of study cases with and without identifiable lesions on CT were compared with t-test for any significant difference and the effect of gender on the presence of identifiable lesions was tested with chi square and the agreement between clinical and CT diagnoses were tested on kappa statistics., Results: (1) Mean age of cases was 37.55 (22.06) years. (2) No significant effect of gender was found on intracranial lesions (P = 0.345). (3) Intracranial lesions were found in 47.3% of cases and the mean age was higher compared to cases with normal findings on cranial CT (P = 0.019). (4) Clinical and CT diagnoses agreed in 56.2% of the cases (P = 0.000)., Conclusion: The high yield of intracranial lesions may be accounted for by the method of selection of cases for cranial CT.