31 research outputs found

    APOE E4 is associated with impaired self-declared cognition but not disease risk or age of onset in Nigerians with Parkinson's disease

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    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

    Sleep disturbances and associated factors amongst stroke survivors in North Central, Nigeria

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    Introduction: Sleep disturbance is common in persons with stroke and when unrecognised and untreated may hinder rehabilitation efforts and lead to poor functional outcome. It may also result in increased risk for stroke recurrence. Aim: We investigated the frequency and associated factors of sleep disturbances amongst stroke survivors. Methodology: One hundred and ten stroke survivors attending the neurology outpatient clinics of two tertiary hospitals, from February 2021 to January 2022, were interviewed after obtaining ethical approval and informed consent. We used a structured questionnaire to obtain their socio-demographic, clinical characteristics and sleep disturbances. Excessive daytime sleepiness was assessed using the Epworth Sleepiness Scale (ESS). Data were analysed with statistical significance set at P < 0.05. Results: Eighty (72.7%) patients were males with a mean age of 61.4 ± 11.8, slightly older than the females (30, 27.3%) with a mean age of 60.9 ± 2.9. Their median follow-up duration was 7.5 months. Majority (84, 76.4%) had ischaemic stroke, and the frequency of sleep disturbances was 37 (33.6%) consisting of insomnia (19, 17.3%), hypersomnia (10, 9.0%), sleep-disordered breathing (5, 4.5%) and sleep-related movement disorder (3, 2.7%), respectively. Using the ESS score, 22 (20.0%) had mild, 10 (9.0%) had moderate and 7 (6.4%) had severe ESS scores, respectively. Univariate analysis showed depression to be significantly associated with ESS (P = 0.006) whereas multivariate analysis revealed age and sex as significant associated factors (P = 0.008 and P = 0.009) of ESS. Conclusion: More than one-third of participants reported sleep disturbances with depression, age and gender as associated factors

    MAPT allele and haplotype frequencies in Nigerian Africans: Population distribution and association with Parkinson's disease risk and age at onset

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    INTRODUCTION: The association between MAPT and PD risk may be subject to ethnic variability even within populations of similar geographical origin. Data on MAPT haplotype frequencies, and its association with PD risk in black Africans are lacking. We aimed to determine the frequencies of MAPT haplotypes and their role as risk factors for PD and age at onset in Nigerians. METHODS: The haplotype and genotype frequencies of MAPT rs1052553 were analysed in 907 individuals with PD and 1022 age-matched healthy controls from the Nigeria Parkinson's Disease Research network cohort. Clinical data related to PD included age at study, age at onset (AAO), and disease duration. RESULTS: The frequency of the H1 haplotype was 98.7% in PD, and 99.1% in controls (p = 0.19). The H2 haplotype was present in - 1.3% of PD and 0.9% of controls (p = 0.24). The most frequent MAPT genotype was H1H1 (PD - 97.5%, controls - 98.2%). The H1 haplotype was not associated with PD risk after accounting for gender and AAO (Odds ratio for H1/H1 vs H1/H2 and H2/H2: 0.68 (95% CI:0.39-1.28); p = 0.23). CONCLUSIONS: Our findings support previous studies that report a low frequency of the MAPT H2 haplotype in black ancestry Africans but document its occurrence in Nigerians. The MAPT H1 haplotype was not associated with an increased risk or age at onset of PD in this cohort

    <i>MAPT</i>allele and haplotype frequencies in Nigerian Africans: population distribution and association with Parkinson’s disease risk and age at onset

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    AbstractBackgroundThe microtubule-associated protein tau (MAPT) gene is critical because of its putative role in the causal pathway of neurodegenerative diseases including Parkinson’s disease (PD). However, there is a lack of clarity regarding the link between the main H1 haplotype and risk of PD. Inconsistencies in reported association may be driven by genetic variability in the populations studied to date. Data onMAPThaplotype frequencies in the general population and association studies exploring the role ofMAPThaplotypes in conferring PD risk in black Africans are lacking.ObjectivesTo determine the frequencies ofMAPThaplotypes and explore the role of the H1 haplotype as a risk factor for PD risk and age at onset in Nigerian Africans.MethodsThe haplotype and genotype frequencies ofMAPTrs1052553 were analysed using PCR-based KASP™ in 907 individuals with PD and 1,022 age-matched neurologically normal controls from the Nigeria Parkinson’s Disease Research (NPDR) network cohort. Clinical data related to PD included age at study, age at onset, and disease duration.ResultsThe frequency of the mainMAPTH1 haplotype in this cohort was 98.7% in individuals with PD, and 99.1% in healthy controls (p=0.19). The H2 haplotype was present in 41/1929 (2.1%) of the cohort (PD - 1.3%; Controls - 0.9%; p=0.24). The most frequentMAPTgenotype was H1H1 (PD - 97.5%, controls - 98.2%). The H1 haplotype was not associated with PD risk after accounting for gender and age at onset (Odds ratio for H1/H1 vs H1/H2 and H2/H2: 0.68 (95% CI:0.39-1.28); p=0.23).ConclusionsOur findings support previous studies that report a low frequency of theMAPTH2 haplotype in black ancestry Africans, but document its occurrence in the Nigerian population (2.1%). In this cohort of black Africans with PD, theMAPTH1 haplotype was not associated with an increased risk or age at onset of PD.</jats:sec

    APOE E4 is associated with cognitive decline but not with disease risk or age of onset in Nigerians with Parkinson’s disease

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    Abstract 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 cognition in 1100 Nigerians with PD and 1097 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 &gt; 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)). Altogether, our findings support previous studies in other ancestries, implying a role for APOE ε4 and ε2 as risk and protective factors respectively for cognitive decline in PD.</jats:p
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