Abstract：
:The understanding of the genetic basis of neurological disorders has grown rapidly in the last two decades. Despite the genomic heterogeneity within African populations, large-scale candidate gene or linkage and exome studies are lacking. However, current knowledge on neurogenetics in African populations is limited and geographically very uneven. Isolated reports indicate the existence of autosomal dominant or recessive conditions incorporating cerebrovascular, movement, neuromuscular, seizure and motor neuron disorders in Africans. In addition, few African families with neurodegenerative disorders associated with dementia have been characterized in North, West and South Africa. The current insurgency in genomic research triggered by among others the Human Health and Heredity (H3) Africa Initiative indicates that there are unique opportunities to advance our knowledge and understanding of the influence of genomic variation on the pattern, presentations and prognosis of neurological disorders in Africa. These have enormous potential to unmask novel genes and molecular pathways germane to the neurobiology of brain disorders. It would facilitate the development of novel diagnostics, preventative and targeted treatments in the new paradigm of precision medicine. Nevertheless, it is crucial to strike a balance between effective traditional public health strategies and personalized genome based care. The translational barriers can be overcome through robust stakeholder engagement and sustainable multilevel, multigenerational and multidisciplinary capacity building and infrastructural development for genomic medicine in Africa.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Akinyemi RO,Owolabi MO,Oyeniyi T,Ovbiagele B,Arnett DK,Tiwari HK,Walker R,Ogunniyi A,Kalaria RN,SIREN group of H3Africa Consortium.doi
10.1016/j.jns.2016.05.006subject
Has Abstractpub_date
2016-07-15 00:00:00pages
213-223eissn
0022-510Xissn
1878-5883pii
S0022-510X(16)30251-9journal_volume
366pub_type
杂志文章,评审abstract：OBJECTIVE:Naftopidil is used clinically for the treatment of voiding disorders in benign prostatic hyperplasia. Previous in vivo experiments in which naftopidil was applied intrathecally abolished rhythmic bladder contraction, suggesting that naftopidil might inhibit a voiding reflex through interaction with spinal dor...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.07.030
更新日期：2017-09-15 00:00:00
abstract：:Ischemic brain lesions were induced in adult Wistar and Fischer rats by temporary occlusion of the bilateral common carotid artery. The severity of ischemic lesions depended on the duration of carotid occlusion. While 2 h occlusion resulted in 15 deaths among 40 rats and the development of ischemic lesions in 16 of 25...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90098-1
更新日期：1989-04-01 00:00:00
abstract：:Adult-onset, chronic progressive spastic paraparesis may be due to a large number of causes and poses a diagnostic challenge. There are no recent evidence-based guidelines or comprehensive reviews to help guide diagnostic work-up. We survey the literature on chronic progressive spastic paraparesis, with special emphas...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2014.09.015
更新日期：2014-11-15 00:00:00
abstract：:This study investigated the relation between severity of auditory comprehension impairment in aphasia and the functional integrity of the posterior superior temporal region as evaluated by middle- and long-latency auditory evoked potentials and dipole source analysis. AEPs were studied in 20 stroke patients and in age...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90064-6
更新日期：1993-03-01 00:00:00
abstract：BACKGROUND:Intracranial hemorrhage (ICH) is the most common neurologic complication of reversible cerebral vasoconstriction syndrome (RCVS). In this study, we compared hemorrhagic and non-hemorrhagic RCVS with an aim to evaluate the risk factors and short-term clinical outcomes of hemorrhagic lesions. METHODS:We used ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2021.117312
更新日期：2021-01-07 00:00:00
abstract：BACKGROUND:The role of subthreshold depression (subD) in Parkinson's Disease (PD) is not clear. The present study aimed to compare the quality of life (QoL) in PD patients with subD vs patients with no depressive disorder (nonD). Factors related to subD were identified. MATERIAL AND METHODS:PD patients and controls re...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117109
更新日期：2020-11-15 00:00:00
abstract：:Myositis was proven histopathologically in 4 patients (age range 36-66 years) who suffered from early or late stages of Borrelia burgdorferi infection. Muscle weakness was present in 3 patients, 1 complaining of additional myalgias. One man came to medical attention because of skin discoloration and swelling of one le...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90089-0
更新日期：1989-06-01 00:00:00
abstract：PURPOSE:The goal of the present study was to clarify the clinical characteristics and laboratory results of parkinsonian symptoms among patients with and without camptocormia. METHODS:Seventy-eight Parkinson's disease (PD) patients with camptocormia and 78 PD patients without camptocormia underwent a neurological exam...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2015.09.015
更新日期：2015-11-15 00:00:00
abstract：:In five patients with cerebral manifestation of Wilson's disease, copper was measured in CSF, serum, urine and liver, and ceruloplasmin was determined in CSF and serum. CSF copper was found to be elevated in all cases, especially in the four examined before therapy. Two patients were followed up for a period of 3 year...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90275-9
更新日期：1987-06-01 00:00:00
abstract：BACKGROUND:Ischemic stroke is the end phenotype of a complex interaction between various genetic and environmental factors. OBJECTIVE:We aimed to explore association of two lipid-relevant genetic variants and conventional risk factors with risk of having ischemic stroke in Northern Han Chinese. METHODS:Genotyping was...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.09.013
更新日期：2009-01-15 00:00:00
abstract：:Alzheimer's disease (AD) is a complex disorder and the most common form of neurodegenerative dementia. Several genetic, environmental, and physiological factors, including inflammations and metabolic influences, are involved in the progression of AD. Inflammations are composed of complicated networks of many chemokine...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2017.03.031
更新日期：2017-05-15 00:00:00
abstract：:A number of diseases exhibit neurodegeneration with/without additional symptoms such as immunodeficiency, increased cancer risk, and microcephalus. Ataxia telangiectasia and Nijmegen breakage syndrome, for example, develop as a result of mutations in genes involved in the DNA damage response. However, such diseases ca...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.02.033
更新日期：2014-05-15 00:00:00
abstract：:The pattern of mental dysfunction in multiple sclerosis (MS) is characteristic of the so-called subcortical dementia. Cognitive dysfunction results predominantly by the disruption of communication among cortical and subcortical areas, as a consequence of the white matter damage. As expected, studies with conventional ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(99)00282-8
更新日期：2000-01-15 00:00:00
abstract：BACKGROUND:To evaluate the presence of ischemic and hemorrhagic lesions in brain MRI of patients with Fabry disease (FD). METHODS:Brain MRI studies in 46 consecutive patients were evaluated using classic sequences as well as GRE-weighted images, for ischemic lesions and chronic microbleed detection. Of the 36 adult pa...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.03.020
更新日期：2011-06-15 00:00:00
abstract：OBJECTIVES:Central autonomic impairment is frequent in ischemic stroke at acute or chronic stages. The mechanism by which these symptoms occur in patients with ischemic stroke has not been elucidated. This study sought to investigate cardiovascular autonomic function in patients with different subtypes of post-acute is...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.11.036
更新日期：2014-02-15 00:00:00
abstract：BACKGROUND:Chorea is a common presenting feature of metabolic disorders, including nonketotic hyperglycemia in patients with type 2 diabetes mellitus, but rarely has been reported in diabetic ketoacidosis, hypothyroidism and vitamin B12 deficiency. METHODS:Review the literature for reported cases of chorea as a presen...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.04.038
更新日期：2014-07-15 00:00:00
abstract：:We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter change with a frontal...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.06.007
更新日期：2013-09-15 00:00:00
abstract：OBJECTIVE:To identify and characterize cup to disc ratio (CDR) and related optic nerve head abnormalities in multiple sclerosis (MS) using spectral domain optical coherence tomography (OCT). BACKGROUND:While CDR is routinely assessed by ophthalmologists in the evaluation of glaucoma, CDR and related optic nerve head m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.12.011
更新日期：2011-03-15 00:00:00
abstract：:The levels of the neuroprotective excitatory amino acid receptor antagonist kynurenic acid (KYNA) have been previously shown to be reduced in several regions of the brain of Huntington's disease (HD) patients. Thus, KYNA has been speculatively linked to the pathogenesis of HD. We have examined KYNA levels and the acti...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)00280-2
更新日期：1995-05-01 00:00:00
abstract：BACKGROUND:Orthostatic hypotension (OH) is a commonly reported sign of the cardiovascular autonomic dysfunctions associated with Parkinson's disease (PD). Patients might suffer from a variety of the clinical symptoms of OH, including dizziness, lightheadedness, or problems with vision and fatigue. OBJECTIVES:To determ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.12.037
更新日期：2018-02-15 00:00:00
abstract：:As we learn more about the relationships between depression and cerebrovascular disease (CVD), a complex picture is emerging in which the chain of causality seems to spiral on itself: progressive or focal brain damage, cognitive impairment, depressive symptoms, dementia, and cardiovascular diseases, all seem to be lia...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2004.09.012
更新日期：2004-11-15 00:00:00
abstract：INTRODUCTION:The B-cell chemoattractant CXCL13 has been suggested as a cerebrospinal fluid (CSF) biomarker for Lyme neuroborreliosis (LNB). Our aim was to substantiate the value of CXCL13 in a large unselected cohort and determine a practical cut-off value to diagnose LNB. METHODS:We retrospectively studied clinical a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116843
更新日期：2020-07-15 00:00:00
abstract：OBJECTIVES:Though much information exists about the diagnosis, treatment, and epidemiology of myasthenia gravis (MG), a comprehensive data registry and biorepository is critical to better understand disease mechanisms, treatment outcomes, and the impact of treatment strategies. We aimed to design and implement the "Exp...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116830
更新日期：2020-07-15 00:00:00
abstract：:The muscle provocation test (MPT: 40 min of strenuous exercise on a bicycle ergometer) is a sensitive method for the detection of carriers of Duchenne muscular dystrophy. The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carriers with mean creatin...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90194-6
更新日期：1983-12-01 00:00:00
abstract：BACKGROUND:Paraneoplastic neurological syndromes (PNS) are poorly described in patients without onconeural antibodies and in patients with non-small cell lung cancer (NSCLC). We compared the clinical characteristics of PNS in lung cancer patients with and without onconeural antibodies. METHODS:Medical records from pat...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.10.040
更新日期：2015-01-15 00:00:00
abstract：:There is ample evidence of an important role of descending serotonergic projections in modulating spinal motor neuron activation and firing, and experimental studies suggest that 5-HT receptor stimulation can improve motor function after spinal cord injury; however, relevant clinical data is sorely lacking. We describ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.04.047
更新日期：2017-07-15 00:00:00
abstract：INTRODUCTION:Functional movement disorders (FMD) are not associated with the kind of structural or biochemical alterations seen in other movement disorders and therefore would be unlikely to be associated with lower urinary tract (LUT) dysfunction. However, LUT symptoms have been observed in patients with FMD. OBJECTI...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.12.048
更新日期：2016-02-15 00:00:00
abstract：BACKGROUND AND AIMS:Both vascular disease and diabetes type 2 (DM2) decrease cognitive functioning in elderly people. It is uncertain if DM2 affects cognition independent of vascular disease. In patients with symptomatic arterial disease, we studied the effect of DM2 on cognition and identified clinical and radiologica...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.02.337
更新日期：2009-08-15 00:00:00
abstract：BACKGROUND:Endocrine dysfunction is known to occur in various infectious diseases of the brain. The neuroendocrine dysfunction is not well studied in patients of Tuberculous meningitis (TBM). In this study, we aimed at knowing pattern of endocrine dysfunction in newly diagnosed patients of tuberculous meningitis, struc...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.06.015
更新日期：2017-08-15 00:00:00
abstract：:3G11, a sialylated carbohydrate epitope on the disialoganglioside molecule, is expressed predominantly on the surface of mouse CD4(+) T cells. Our previous studies suggested that lack of the 3G11 molecule could be a new cell surface marker for regulatory CD4(+) T cells. In the present study, we explore the relationshi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.04.019
更新日期：2010-08-15 00:00:00
