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1.
Niger Postgrad Med J ; 30(3): 193-199, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37675695

RESUMEN

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.


Asunto(s)
Isquemia Encefálica , Trastornos de Somnolencia Excesiva , Trastornos del Sueño-Vigilia , Accidente Cerebrovascular , Masculino , Femenino , Humanos , Persona de Mediana Edad , Anciano , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/complicaciones , Isquemia Encefálica/complicaciones , Nigeria/epidemiología , Trastornos de Somnolencia Excesiva/etiología , Trastornos del Sueño-Vigilia/epidemiología , Trastornos del Sueño-Vigilia/etiología , Sueño
2.
Lancet Neurol ; 22(11): 1015-1025, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37633302

RESUMEN

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 ß=-2·00 [SE=0·57], p=0·0005, for African ancestry; and ß=-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.


Asunto(s)
Pueblo Africano , Enfermedad de Parkinson , Humanos , Población Negra/genética , Sitios Genéticos , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo , Desequilibrio de Ligamiento , Enfermedad de Parkinson/etnología , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple/genética , Pueblo Africano/genética
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