• DNA methylation map of mouse and human brain identifies target genes in Alzheimer's disease. (nature.com)
  • Dr. Wilhelmsen's laboratory is engaged in the genetic mapping of susceptibility loci for complex traits such as addiction and the positional cloning of genes responsible for neurodegenerative disorders. (unc.edu)
  • At UCSF, he established a clinical and laboratory program to identify addiction susceptibility genes. (unc.edu)
  • There are few conditions where there is a genetic susceptibility that shows more complex interactions between genes and the environment than addiction. (unc.edu)
  • A genetic aetiology has been identified in up to 20% of apparently "sporadic" and 60% of familial ALS cases, in which two or more family members are clinically affected, with at least 16 genes and genetic loci implicated in ALS pathogenesis. (acnr.co.uk)
  • Many causative genes and susceptibility loci have been identified to be associated with Parkinson's disease (PD) in different ethnic populations. (paparesearch.com)
  • This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
  • 2020) provided a detailed review of the genes involved in different forms of ALS with FTD, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. (beds.ac.uk)
  • Genetic Heterogeneity of Amyotrophic Lateral Sclerosis ALS is a genetically heterogeneous disorder, with several causative genes and mapped loci. (beds.ac.uk)
  • Nature Genetics) of the first new susceptibility genes for 17 years defined a pivotal moment in Alzheimer's genetics research. (cardiff.ac.uk)
  • What is striking about her group's findings is that the genes identified show patterns of relationship, which implicate novel disease mechanisms, including immunity, endocytosis, lipid transport and ubiquination. (cardiff.ac.uk)
  • These mutations result in increased creation of amyloid peptide (A). Advancement of sporadic late-onset Advertisement is linked to age group, vascular factors, irritation and diabetes aswell as set up susceptibility genes such as for example apolipoprotein E (APOE) [7-10] as well as the most recently uncovered SORL1 [11]. (citiesofdata.org)
  • Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)
  • Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. (biomedcentral.com)
  • In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
  • An approach for ranking genes implicated in the comorbid condition of the two diseases was proposed. (biomedcentral.com)
  • The approach is based on ten criteria for ranking genes by their importance, including relevance scores of association between disease and genes, standard methods of gene prioritization, as well as original criteria that take into account the characteristics of an associative gene network and the presence of known polymorphisms in the analyzed genes. (biomedcentral.com)
  • According to the proposed approach, the genes OPRM1, CHRNA4 and SNCA had the highest priority in the development of comorbidity of these two diseases. (biomedcentral.com)
  • Additionally, it was revealed that the most relevant genes are involved in biological processes related to signal transduction, positive regulation of transcription from RNA polymerase II promoters, chemical synaptic transmission, response to drugs, ion transmembrane transport, nervous system development, cell adhesion, and neuron migration. (biomedcentral.com)
  • We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. (amsterdamumc.org)
  • The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease cases and 1679 control subjects. (amsterdamumc.org)
  • In secondary analyses designed to highlight the specific genes driving the aggregate signal, we confirmed associations at the GBA and SMPD1 loci and newly implicate CTSD, SLC17A5, and ASAH1 as candidate Parkinson's disease susceptibility genes. (amsterdamumc.org)
  • Quantitative Trait Loci and Candidate Genes for Neutrophil Recruitment in Sterile Inflammation Mapped in AXB-BXA Recombinant Inbred Mice. (genenetwork.org)
  • However, how loss of function of the parkin protein leads to dopaminergic cell death in this disease is unclear. (wikipedia.org)
  • The prevailing hypothesis is that parkin helps degrade one or more proteins toxic to dopaminergic neurons. (wikipedia.org)
  • The major neuropathologic hallmarks of PD are the loss of dopaminergic neurons in the substantia nigra and the accumulation of cytoplasmic inclusions, so-called Lewy bodies (LB), composed primarily of the protein α-synuclein (α-syn) [ 2 ]. (biomedcentral.com)
  • One of the significant mutations in LRRK2 linked to PD is the G2019S which has been found associated with neuronal impairment and loss of dopaminergic neurons. (paparesearch.com)
  • This is illustrated in the graph below, which shows the decline of dopaminergic neurons during normal aging, in idiopathic PD, in PD caused by environmental or genetic factors, and in early-onset PD. (atrainceu.com)
  • Idiopathic PD (IPD, blue line) is of unknown origin but is thought to develop gradually, with a slow degeneration of dopaminergic neurons leading to the classic PD motor symptoms later in life. (atrainceu.com)
  • Another model of dopamine neurodegeneration leading to PD motor symptoms involves repeated exposure to environmental toxicants over time in combination with a genetic predisposition to dopaminergic neuron loss (yellow line). (atrainceu.com)
  • Early-onset PD (red line), as caused by mutations in the PARKIN gene, involves a precipitous decline in dopaminergic neurons, and PD motor symptoms can present decades prior to those in idiopathic PD. (atrainceu.com)
  • One more scenario (not shown) of PD motor symptom development involves possible in utero environmental toxicants or genetic factors leading to an atypically low number of dopaminergic neurons at birth and increased susceptibility to PD development (Haas et al. (atrainceu.com)
  • The symptomatic motor disturbances arise from the progressive loss of dopaminergic neurons in the substantia nigra of the brain. (ukessays.com)
  • It is crucial to understand the pathological mechanisms underlying the selective destruction of dopaminergic neurons in PD so that effective treatments and prophylaxis can be developed. (ukessays.com)
  • Even subtle alterations in dopaminergic signaling may affect brain functions, and may underlie various neuropsychiatric diseases. (igbmc.fr)
  • Mutations are associated with mitochondrial dysfunction, leading to neuronal death in Parkinson's disease and aberrant metabolism in tumourigenesis. (wikipedia.org)
  • citation needed] Mutations in this gene are known to cause a familial form of Parkinson's disease known as autosomal recessive juvenile Parkinson's disease (AR-JP). (wikipedia.org)
  • Homozygosity for the more common haplotype H1 is associated with an increased risk for several tauopathies, but also for the synucleinopathy Parkinson's disease (PD). (biomedcentral.com)
  • Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease (AD). (biomedcentral.com)
  • Something similar happens in Parkinson's disease, but this time you need to block Cav1.3. (epiphanyasd.com)
  • The very low incidence of G2019S mutation in Egyptians living in Upper Egypt compared to Egyptians inhabitants in North Egypt suggests a prospective multicenter study on a large number of Egyptians with Parkinson's disease to reach a real incidence of that mutation and if it has (or not) a correlation to causation and course of Parkinson's disease among Egyptians. (paparesearch.com)
  • Enhanced mTORC1 signaling and protein synthesis in pathologic α-synuclein cellular and animal models of Parkinson's disease. (neurotree.org)
  • DNA Methylation Signature of Aging: Potential Impact on the Pathogenesis of Parkinson's Disease. (neurotree.org)
  • The c-Abl inhibitor IkT-148009 suppresses neurodegeneration in mouse models of heritable and sporadic Parkinson's disease. (neurotree.org)
  • Cell Biology of Parkin: Clues to the Development of New Therapeutics for Parkinson's Disease. (neurotree.org)
  • Although we are learning more each day about the pathophysiology of Parkinson's disease, it is still considered largely idiopathic (of unknown cause). (atrainceu.com)
  • Physiologically, the symptoms associated with Parkinson's disease are the result of the loss of a number of neurotransmitters, most notably dopamine. (atrainceu.com)
  • As less and less dopamine is produced by the neurons affected by Parkinson's disease, far less dopamine is available to bind to the dopamine receptors on the post-synaptic membrane. (atrainceu.com)
  • In Parkinson's disease the loss occurs at a much greater rate and both biochemical measures and imaging studies suggest there is a significant decrease in dopamine by the time motor symptoms appear. (atrainceu.com)
  • In this view, Parkinson's disease is an accelerated version of the cell death seen with normal aging (Cookson, 2009). (atrainceu.com)
  • Parkinson's Disease (PD) is characterized clinically by tremors at rest, bradykinesia (slowness of voluntary movement), muscle rigidity, decrease in postural reflex and facial expression and an altered gait (Kumar et al. (ukessays.com)
  • AD and Parkinson's disease, ALS, schizophrenia) and complex statistical analyses (e.g. gene-wide/burden, pathway analyses). (cardiff.ac.uk)
  • This review will summarize the updated research progress on APOE functions and its role in Alzheimer's disease, Parkinson's disease, cardiovascular diseases, multiple sclerosis, type 2 diabetes mellitus, Type III hyperlipoproteinemia, vascular dementia, and ischemic stroke. (dovepress.com)
  • 3 In this review, we discuss the biological functions of human APOE and its role in Alzheimer's disease (AD), Parkinson's disease (PD), cardiovascular diseases (CVD), multiple sclerosis (MS), type 2 diabetes mellitus (T2DM), vascular dementia (VD), and ischemic (occlusive) stroke (IS). (dovepress.com)
  • Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. (amsterdamumc.org)
  • We discovered a significant burden of rare, likely damaging lysosomal storage disorder gene variants in association with Parkinson's disease risk. (amsterdamumc.org)
  • In our discovery cohort, the majority of Parkinson's disease cases (56%) have at least one putative damaging variant in a lysosomal storage disorder gene, and 21% carry multiple alleles. (amsterdamumc.org)
  • Our results highlight several promising new susceptibility loci and reinforce the importance of lysosomal mechanisms in Parkinson's disease pathogenesis. (amsterdamumc.org)
  • We suggest that multiple genetic hits may act in combination to degrade lysosomal function, enhancing Parkinson's disease susceptibility. (amsterdamumc.org)
  • Our research aims to pinpoint how specific classes of transposable elements have contributed to the evolution of human neuronal gene expression networks and understand how these changes may relate to human's increased susceptibility to neurodevelopmental disorders such as Autism and Schizophrenia and human neurodegenerative diseases such as Alzheimer's and Parkinson's disease. (uva.nl)
  • What Is Wrong with Balance in Parkinson's Disease? (e-jmd.org)
  • Postural instability and resulting falls are major factors determining quality of life, morbidity, and mortality in individuals with Parkinson's disease (PD). (e-jmd.org)
  • Do cervical stabilization exercises change the effects of conventional exercises in patients with Parkinson's disease? (e-jmd.org)
  • Despite this evidence, the BSCB (like the BBB) breakdown in disease pathogenesis remains unclear [ 6 , 7 ]. (hindawi.com)
  • Human brain organoids are used for understanding pathogenesis and investigating therapeutic options for neurodevelopmental, neuropsychiatric, neurodegenerative, and neurological disorders. (mdpi.com)
  • Dr. Wilhelmsen's current research activity in this area is devoted to determining how tau mutations produce disease, and the positional cloning of mutations responsible for related disorders. (unc.edu)
  • Motor neuron disease (MND) encompasses a group of rapidly progressive and universally fatal neurodegenerative disorders of the human motor system, first described in the mid-19th century by the French Neurologist Jean Martin Charcot. (acnr.co.uk)
  • More recently, an association between ALS and frontotemporal degeneration (FTD) has been established, suggesting that ALS forms a continuum with primary neurodegenerative disorders, a notion underscored by the identification of the c9orf72 hexanucleotide expansion. (acnr.co.uk)
  • The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration. (beds.ac.uk)
  • Farnesyltransferase inhibitors (FTIs) have recently been investigated for repositioning toward the treatment of neurodegenerative disorders and block the action of farnesyltransferase (FTase) to catalyze farnesylation, a post-translational modification that regulates proteins involved in lysosome function and microtubule stability. (biomedcentral.com)
  • Scholz SW, Bras J. Genetics underlying atypical parkinsonism and related neurodegenerative disorders. (jamanetwork.com)
  • Molecular genetics of neurodegenerative disorders (e.g. (helsinki.fi)
  • These studies take advantage of murine models relevant to neurodevelopmental disorders, Parkinson and Huntington diseases, and depression . (igbmc.fr)
  • Alzheimer's disease (AD) is a progressive neurodegenerative disorder that occurs predominantly in later life. (bmj.com)
  • Alzheimer disease (AD) is a neurodegenerative disorder marked by cognitive and behavioral impairment that significantly interferes with social and occupational functioning. (medscape.com)
  • Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. (beds.ac.uk)
  • ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. (beds.ac.uk)
  • A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. (houstonmethodist.org)
  • This neurodegenerative disorder is normally seen as a preliminary modifications in latest storage mostly, followed by intensifying memory deficits, character changes, and an entire lack of intellectual capability [2 eventually,4]. (citiesofdata.org)
  • Alzheimer's disease (AD) is the most common cause of dementia in the elderly, whereas frontotemporal lobar degeneration (FTLD) is the most frequent neurodegenerative disorder with a pre-senile onset. (touchneurology.com)
  • Epigenetic regulation in the pathophysiology of Alzheimer's disease. (nature.com)
  • Alzheimer's disease. (nature.com)
  • Sanchez-Mut, J. V. & Gräff, J. Epigenetic alterations in Alzheimer's disease. (nature.com)
  • Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease. (nature.com)
  • Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci. (nature.com)
  • The same is also true of the most common neurodegenerative disease, Alzheimer's Disease (AD). (ukessays.com)
  • Although possession of the ε4 allele of the apolipoprotein E gene appears to be an important biological marker for Alzheimer's disease (AD) susceptibility, strong evidence indicates that at least one additional risk gene exists on chromosome 12. (bmj.com)
  • Alzheimer's disease (AD) is a progressive neurodegenerative disease that is the most common cause of dementia in the aging population and is characterized by significant impairment in learning and memory. (biomedcentral.com)
  • Julie is now a senior figure in the field of Alzheimer's disease research. (cardiff.ac.uk)
  • Since then, the consortium she leads, GERAD (Genetic and Environmental Risk in Alzheimer's Disease), has continued the momentum and has played a leading role in further discoveries. (cardiff.ac.uk)
  • She was appointed Dean of Research, at the School of Medicine at Cardiff University and her contribution to Alzheimer's disease research was nationally recognised when she was made a Commander of the Order of the British Empire (C.B.E.) in the Queen's Jubilee Birthday Honours list 2012. (cardiff.ac.uk)
  • Alzheimer's disease (AD) is the most common cause of dementia in the elderly, with a prevalence of 5% after 65 years of age. (touchneurology.com)
  • Pathologic aggregates containing hyperphosphorylated tau protein occur within the brain in a variety of neurodegenerative diseases termed tauopathies, including AD, corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP). (biomedcentral.com)
  • Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. (jamanetwork.com)
  • A logical extension of this work is to develop the ability to perform genome-wide association analysis, which is being used to identify common sequence variations that affect susceptibility to neurodegeneration. (unc.edu)
  • Multiple sclerosis is a chronic inflammatory disease of the central nervous system which leads to the formation of focal confluent lesions of primary demyelination in the white and gray matter and to diffuse damage and neurodegeneration in the entire brain ( 1 ). (frontiersin.org)
  • Glycogenolysis and glucose sparing dictate the energy available to support neuronal activity, thus playing a fundamental role in brain function in health and disease. (marbilab.it)
  • When the action potential reaches the presynaptic terminal, it provokes the release of a small quantity of neurotransmitter molecules, which bind to chemical receptor molecules located in the membrane of the postsynaptic neuron, on the opposite side of the synaptic cleft. (atrainceu.com)
  • Proof implies that soluble A oligomers or ADDLs bind to neurons at their synaptic loci selectively, and cause main adjustments in synapse morphology and structure, that leads to dendritic spine loss ultimately. (citiesofdata.org)
  • Introduction: Synaptic dysfunction and degeneration is one of the earliest events in Alzheimer's disease (AD) and the best correlate of cognitive decline. (lu.se)
  • Coronal T1-weighted magnetic resonance imaging (MRI) scan in a patient with moderate Alzheimer disease. (medscape.com)
  • This resembles the β-amyloid precursor protein (APP) in Alzheimer disease (AD), which can be physiologically processed by α-, β-, and γ-secretases. (mdpi.com)
  • The disease was originally described by Alois Alzheimer and Gaetano Perusini in 1906, and it is clinically characterised by progressive cognitive impairment including impaired judgement, decision-making and orientation, often accompanied, in later stages, by psychobehavioural disturbances as well as language impairment. (touchneurology.com)
  • Alzheimer disease (AD) is the most common progressive degenerative form of dementia, strongly associated with advancing age. (medscape.com)
  • Although Alzheimer disease (AD) is more frequent in individuals with Down syndrome (DS), the main contributing factor is unknown. (medscape.com)
  • Alzheimer's disease (AD) is the most common cause of dementia. (lu.se)
  • Although his group has mapped the loci for many traits, Dr. Wilhelmsen's original identification of linkage of the syndrome disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) to 17q21-22 (now called FTDP-17) had a key role in setting the direction for his future research. (unc.edu)
  • His attraction to the DDPAC phenotype was the wide clinical spectrum of disease presentation (including dementia, motor neuron disease, parkinsonism, alcoholism and behaviors similar to schizophrenia) seen in individuals with the same mutation. (unc.edu)
  • We investigated the same mutation in 69 Egyptian patients with sporadic PD and 96 ethnically matched controls who all were inhabitants of Upper Egypt to find out if it could be a susceptibility gene for PD among Egyptians. (paparesearch.com)
  • Research into the gene mutations discovered in such hereditary cases has also contributed to the understanding of the aetiology of the spontaneous, late onset form of the disease. (ukessays.com)
  • Animal models of the disease, created using neurotoxins such as rotenone or 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), or transgenic mice that overexpress human SYN gene (for ï ¡-synuclein) mutations, do not faithfully replicate the structure and antigenicity of the Lewy bodies found in PD (Dickson 2001). (ukessays.com)
  • We have ongoing interests in the systems level analysis and reconstruction of regulatory networks, inference of enhancer-promoter contacts, predictive models of gene expression and integration of three-dimensional chromatin structure with one-dimensional epigenetic measurements in the context of cancer, malaria, asthma and several autoimmune diseases. (ucsd.edu)
  • To address these questions, we use genetic, pharmacological or behavioral mouse models of specific diseases, as well as CRISPR- and viral-based approaches to control gene expression. (igbmc.fr)
  • Concerning sporadic AD, it is known that the presence of the ε4 allele of the apolipoprotein E gene is a susceptibility factor. (touchneurology.com)
  • Mutational analysis revealed point-mutations in the SOD1 gene to cosegregate with the disease in these pedigrees. (bmj.com)
  • Joint mouse-human phenome-wide association to test gene function and disease risk. (genenetwork.org)
  • In the past 2 decades, genome-wide association studies (GWAS) have identifyed genetic susceptibility loci that confer the risk for sporadic PD [ 3 ]. (biomedcentral.com)
  • In the past, genome-wide association studies (GWAS) have identified an important number of risk loci associated with AD pathology 3 , but a causal relationship remains difficult to establish. (nature.com)
  • Launch Alzheimers disease (Advertisement) may be the most common type of dementia N-Desethyl Sunitinib in older people with half of most people over 85 years of age developing it. (citiesofdata.org)
  • Success has been particularly limited in adult-onset neurodegenerative diseases, for which no disease-modifying drug yet exists. (nature.com)
  • Amyotrophic lateral sclerosis (ALS) is an adult-onset, fatal neurodegenerative syndrome characterised mainly by the progressive loss of upper and lower motor neurons and their axons resulting in wasting, paresis and death from respiratory failure within a few years on average. (bmj.com)
  • Second, while reports sometimes categorize trials as preventive versus symptomatic, we wished to examine more quantitative metrics of disease stage or severity. (nature.com)
  • We find that PM20D1 is a methylation and expression quantitative trait locus coupled to an AD-risk associated haplotype, which displays enhancer-like characteristics and contacts the PM20D1 promoter via a haplotype-dependent, CCCTC-binding-factor-mediated chromatin loop. (nature.com)
  • Neurodegenerative disease is on the rise globally due to aging populations 1 , highlighting a need for effective therapeutic interventions. (nature.com)
  • In this study, we sought to understand the disease stages and therapeutic hypotheses studied in clinical trials conducted in neurodegenerative diseases to date. (nature.com)
  • The various biochemical, physiological, and genomic factors that can influence BBB permeability in ALS and other neurodegenerative diseases are also discussed, in addition to novel therapeutic strategies centred upon the BBB. (hindawi.com)
  • We also investigate the therapeutic potential of specific retinoids in neurological and psychiatric diseases. (igbmc.fr)
  • Understanding the mutations in APOE, their structural properties, and their isoforms is important to determine its role in various diseases and to advance the development of therapeutic strategies. (dovepress.com)
  • Departments of pharmacology, neurology, and clinical pathology, Assiut University (Egypt) and Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany between June 2010 and September 2011. (paparesearch.com)
  • Our goals were to characterize clinical trials across major neurodegenerative disease indications, identifying correlations and temporal trends, particularly with regards to disease stages and molecular targets of drugs. (nature.com)
  • 2 In addition, the varied clinical presentations of MND also include (i) progressive muscle atrophy (PMA, ~ 10% of MND cases), a clinically pure lower motor neuron (LMN) phenotype, (ii) primary lateral sclerosis (PLS, 1-3% of MND cases), a clinically pure upper motor neuron (UMN) phenotype and (iii) progressive bulbar palsy (PBP, 1-2% of MND cases), an isolated bulbar phenotype with relative preservation of spinal motor neurons. (acnr.co.uk)
  • In general the disease starts in patients in the third decade of life with a relapsing and remitting clinical course. (frontiersin.org)
  • 2 )]. It is currently an open debate, whether primary progressive MS is a distinct disease entity or whether it just represents part of the variable clinical disease spectrum ( 3 - 5 ). (frontiersin.org)
  • In this case PPMS would be just a clinical variant of a common disease process. (frontiersin.org)
  • 7 The frequency of ALS is significantly lower in non-Caucasian populations, 8 suggesting a role for genetic factors in ALS susceptibility. (acnr.co.uk)
  • A number of additional genetic factors contribute to susceptibility for AD and FTLD. (touchneurology.com)
  • The goal is to understand how discrete developmental events contribute to physiological diversity in cognitive performance, or affective susceptibility to stress, and understand the neurodevelopmental basis of neurologic diseases. (igbmc.fr)
  • ii) the increase in calcium, sodium and chloride amounts due to NMDA glutamate receptors hyperactivation was connected with extreme depolarization from the postsynaptic membrane, the starting point of neurodegenerative procedures and cell loss of life [23]. (bioerc-iend.org)
  • In the early stages of the disease Cav1.3 is over-expressed in a key part of the brain, which triggers a slow process of degeneration. (epiphanyasd.com)
  • The Wilhelmsen group has been using linkage analysis to map susceptibility loci and determine the phenotype that segregates with the alternative alleles for these loci. (unc.edu)
  • Clinically, ALS is characterised by co-existence of upper and lower motor neuron signs encompassing multiple body regions, with evidence of progressive deterioration. (acnr.co.uk)
  • 2 Lower motor neuron signs are clinically characterised by fasciculations, muscle wasting and weakness, while UMN signs include slowness of movement, increased tone, hyper-reflexia and extensor plantar responses. (acnr.co.uk)
  • This research investigates the role of hypoxia-inducible factor (HIF)-1α/heme oxygenase (HO)-1 in hippocampal neuron ferroptosis during epilepsy. (bvsalud.org)
  • Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)
  • Targeting APOE may be a potential approach for diagnosis, risk assessment, prevention, and treatment of various neurodegenerative and cardiovascular diseases in humans. (dovepress.com)
  • In this article, the role of Y chromosome in male-specific diseases (male infertility and prostate cancer (PC), and the ones which primarily affect men such as cardiovascular diseases, inflammatory diseases, and various types of cancers has been reviewed (Fig. 2 ). (biomedcentral.com)
  • Linkage analysis for four large-scale family based projects has been completed and loci have been identified for a series of addiction and personality related phenotypes. (unc.edu)
  • Most researchers regard MS as a primary inflammatory disease, in which demyelination and tissue injury is driven by immune mediated mechanisms throughout all different stages and in all different courses ( 6 , 7 ). (frontiersin.org)
  • Parkinson's is increasingly seen as a complex neurodegenerative disease with a sequence of progression. (atrainceu.com)
  • We used a previously validated multiplexed 10-min, targeted proteomic assay to assess 54 candidate cerebrospinal fluid (CSF) biomarkers in two independent cohorts comprising individuals with neurodegenerative dementias and healthy controls. (lu.se)
  • All the proposed and approved treatments aim to slow a patient's rate of functional decline and prolong life, but reversing damage in neurodegenerative conditions is a more elusive goal. (cdc.gov)
  • Though often linked to disease initiation, not progression, these targets were tested mostly at symptomatic disease stages. (nature.com)
  • We sought to determine if mobile applications (apps) and wearable devices can be used to quantify ALS disease progression through active (surveys) and passive (sensors) data collection. (cdc.gov)
  • In a minority of patients the relapsing remitting disease is skipped and the patients show progression from the onset (primary progressive MS, PPMS). (frontiersin.org)
  • Abstract Over the last two decades, it has been established that glucose metabolic fluxes in neurons and astrocytes are proportional to the rates of the glutamate/GABA-glutamine neurotransmitter cycles in close to 1:1 stoichiometries across a wide range of functional energy demands. (marbilab.it)
  • Recent investigations identified some loci, namely INPP5D, CD2AP and CASS4 that mediate AD susceptibility and are high-incidence risk factors in AD [18-20]. (bioerc-iend.org)
  • In the remaining 90% of ALS patients where there is no family history, the disease is considered to be sporadic (denoted as SALS). (bmj.com)
  • Neurodegenerative disease is increasingly prevalent and remains without disease-modifying therapies. (nature.com)
  • Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)
  • The majority of ALS patients present with limb-onset disease (65-75%), 10 spreading along the neuraxis to affect contiguous motor neurons. (acnr.co.uk)
  • This difference in permeability has attracted motor neuron disease (MND) research, with findings suggesting that the BSCB is damaged in human and rodent ALS sufferers. (hindawi.com)
  • A better understanding of ALS should lead to earlier detection and treatment, stopping or slowing the disease before patients develop a severe, progressive loss of motor function. (cdc.gov)