• Despite undeniable progresses in the knowledge concerning the molecular pathology of Machado- Joseph disease (MJD)/Spinocerebellar ataxia type 3 (SCA3), therapeutic compounds remain to be discovered and validated. (ataxia.org)
  • Mayo Clinic researchers, along with national and global collaborators, have developed a potential test for Machado-Joseph disease, or spinocerebellar ataxia type 3 (SCA3)-a disease that has no cure. (medicalxpress.com)
  • In view of upcoming scientific trials, quantitative molecular markers accessible in peripheral blood are of important significance as prognostic or pharmacodynamic markers in genetic neurodegenerative ailments comparable to Spinocerebellar Ataxia Kind 3 (SCA3), specifically for signaling goal engagement. (ataxin.com)
  • Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia , followed by SCA2 and SCA6. (nih.gov)
  • Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. (nih.gov)
  • The first named ataxia to emerge as a clinical entity was not an OPCA, but Friedreich ataxia , which Nicolaus Friedreich (1825-1882) managed to separate from numerous other conditions, the most prominent being multiple sclerosis (then called disseminated sclerosis) and neurosyphilis . (medscape.com)
  • Spinocerebellar ataxia type 35 (SCA35) is a rare, autosomal dominant neurodegenerative disorder associated with mutations in TGM6 gene that encode the protein transglutaminase 6 (TG6). (ataxia.org)
  • The main goal of our project is the development of a powerful genetic model to investigate pathogenesis of spinocerebellar ataxia with axonal neuropathy-1 (SCAN-1) disease. (ataxia.org)
  • 2012). Ataxia rating scales-psychometric profiles, natural history and their application in clinical trials . (up.pt)
  • 2009). Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients . (up.pt)
  • 2010). Autosomal dominant cerebellar ataxia: Frequency analysis and clinical characterization of 45 families from Portugal . (up.pt)
  • Spinocerebellar ataxia represents a group of slow and progressive neurodegenerative diseases of varying inherited degrees of rarity, which is in contrast to a related group of neurological disorders that are acquired following traumatic injuries or other external agents. (mhmedical.com)
  • Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain called the hindbrain. (brainandnervecenter.com)
  • Wernicke's syndrome, also known as Wernicke encephalopathy, is a neurological disease characterized by the clinical triad of confusion, the inability to coordinate voluntary movement (ataxia), and eye (ocular) abnormalities. (brainandnervecenter.com)
  • Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. (brainandnervecenter.com)
  • Spinocerebellar ataxia (SCA) is part of the cerebellar neurodegenerative illness group that's numerous in genetics and phenotypes. (ataxin.com)
  • Several such studies have indicated that such medications may produce modest improvement in ataxia caused by various neurodegenerative conditions, including OPCA. (medscape.com)
  • Azorean neurologic disease is one of the 40 types of spinocerebellar ataxia (SCA). (brainandnervecenter.com)
  • Azorean neurologic disease , also known as Joseph's disease, is spinocerebellar ataxia. (brainandnervecenter.com)
  • 1. Familial history of the disease: persons with a first-line family member with ataxia are likely to develop the disease. (brainandnervecenter.com)
  • Individuals with a milder phenotype have mild-to-moderate intellectual disability, impaired hearing, characteristic coarse features, clinical or radiographic skeletal abnormalities, immunodeficiency, and primary central nervous system disease - mainly cerebellar involvement causing ataxia. (nih.gov)
  • Historically, however, one had to rely solely on the combination of clinical observation and neuropathology to describe the disorders. (medscape.com)
  • Among these ND, dementia of various types presents the highest rates of morbidity, followed by Alzheimer's disease and related disorders affecting up to 7 million people in Europe. (functionalmedsystem.com)
  • Epidemiological studies have confirmed that environmental toxins are one of the most important factors contributing to the development of neurodegenerative disorders (eg excessive exposure to pesticides, heavy metals, etc. (functionalmedsystem.com)
  • Neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease and Huntington's disease, present a major health issue and financial burden for health care systems around the world. (worktribe.com)
  • Symptoms of neurological disorders (i.e motor deficits), co-morbidities (i.e. pain, depression, anxiety) and some disease-specific pharmaceuticals may cause insomnia and/or other sleep problems. (biomedcentral.com)
  • Insomnia is one of the most frequent sleep complaints in neurodegenerative movement disorders. (biomedcentral.com)
  • Insomnias with difficulties of initiating and maintaining sleep, excessive daytime sleepiness, motor disorders during sleep and parasomnias, early awakening and impaired sleep quality frequently accompany neurological diseases as secondary or comorbid conditions. (biomedcentral.com)
  • Clinically, the disease is characterized by complex and variable symptoms that include movement disorders, psychiatric problems and cognitive decline 2 . (nature.com)
  • For example, in Alzheimer's disease, mutations in 3 genes, APP, PSEN1 and PSEN2 cause the disease between the ages of 30-60 years. (functionalmedsystem.com)
  • Journal of Alzheimer's Disease. (elsevierpure.com)
  • 2013). Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset . (up.pt)
  • This cross-sectional study investigated depression as the middle- (4 years) and long-term (7 and 10 years) psychological impact of pre-symptomatic testing (PST) for 3 autosomal dominant late-onset diseases: Huntington's disease (HD), Machado-Joseph disease (MJD) and familial amyloidotic poly- neuropathy (FAP) TTR V30M. (bvsalud.org)
  • Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. (nature.com)
  • 1 At clinical onset, manifestations appear rather focal, resulting in bulbar, cervical or lumbar phenotypes. (bmj.com)
  • The clinical manifestations include loss of control and coordination of muscles leading to disordered eye movement, locomotion, and speech. (brainandnervecenter.com)
  • The study indicates that depression occurs only when subjects had previously manifested the fi rst symptoms of their neurologic disease. (bvsalud.org)
  • What are the symptoms for azorean neurologic disease? (brainandnervecenter.com)
  • GST-4-dependent suppression of neurodegeneration in C. elegans models of Parkinson's and Machado-Joseph Disease by rapeseed pomace extract supplementation. (worktribe.com)
  • Can three-dimensional visual cues delivered via smart glasses reduce freezing of gait in patients with Parkinson's Disease? (mdsabstracts.org)
  • We recruited 361 seropositive contacts (SPC) from 2017 to 2021, who were subjected to an extensive protocol that included clinical, molecular, and electroneuromyographic evaluations. (bvsalud.org)
  • The term "neurodegenerative diseases" is a generic term that includes a series of diseases of the nervous system involving neurons in which primary degeneration in specific anatomical regions is observed. (functionalmedsystem.com)
  • With increased longevity and subsequent rise in people with age-related neurodegenerative diseases, protection of neurons from oxidative stress damage has become an important field of study. (worktribe.com)
  • The neurodegenerative illness Machado-Joseph illness (MJD), often known as spinocerebellar ataxin-3, impacts neurons of the mind and spinal twine, disrupting management of the motion of muscle groups. (ataxin.com)
  • Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder in which there is preferential loss of both the upper and lower motor neurons. (bmj.com)
  • The clinical use of tricyclic antidepressants (TCAs) or serotonin-selective reuptake inhibitors (SSRIs) is targeted at specific neurons and ignores the microenvironment of neurogenesis. (frontiersin.org)
  • In order to identify genes that may modify disease onset and progression, genome-wide association and gene expression studies have been performed 12 , 13 . (nature.com)
  • The generation of an in vivo model of SCA35 can be of use to better understand the molecular mechanisms induced by TG6 loss of function and find new therapeutic avenues for this disease. (ataxia.org)
  • Identification of molecular biomarkers, accessible in a peripheral tissue such as the blood, is therefore of particular importance to allow the fine tracking of disease progression, starting at the preclinical stage, thus facilitating the detection of subtle therapeutic benefits during interventional therapeutic trials. (ataxia.org)
  • Identification of the 5-HT1A serotonin receptor as a novel therapeutic target in a C. elegans model of Machado-Joseph disease. (uminho.pt)
  • The study of neurodegenerative ataxias draws from the interplay between clinical observations, neuropathological analysis, and biochemistry and molecular genetics. (medscape.com)
  • Many variations are encountered in the clinical phenotype, ranging from findings of pure cerebellar dysfunction to mixed patterns of involvement reflecting extrapyramidal, brain stem, and cerebral cortical involvement. (mhmedical.com)
  • These components of insomnia - namely persistent sleep difficulties despite of adequate sleep opportunity resulting in daytime dysfunction - appear secondary or co-morbid to neurological diseases. (biomedcentral.com)
  • This neurodegenerative dysfunction is attributable to the enlargement of a polyglutamine area in ataxin-2. (ataxin.com)
  • The large number of genes and the diversity of processes involved in the progression of neurological diseases in general, and HD in specific, emphasizes the need for comprehensive approaches in additional to studies of individual genes 14 . (nature.com)
  • Three major clinical subtypes have been suggested: A mild form recognized after age ten years with absence of skeletal abnormalities, myopathy, and slow progression (type 1). (nih.gov)
  • Many types of cardiovascular diseases (CVDs) are associated with complex immune responses that can significantly contribute to their progression and remission. (biomedcentral.com)
  • Can the level of CSF Neurofilament Light Chain predict disease progression in Progressive Supranuclear Palsy? (mdsabstracts.org)
  • At present, the cost for the care of people with dementia across Europe is about € 130 billion a year, highlighting age-related neurodegenerative diseases as one of the top medical and social challenges facing our society. (functionalmedsystem.com)
  • The initial symptoms of this condition are most commonly epileptic seizures, but the disease progresses rapidly with dementia, neuropsychiatric symptoms, and cognitive deterioration and has a fatal outcome within 5-10 years after onset. (ibecbarcelona.eu)
  • 2016). (CAG) n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China . (up.pt)
  • DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). (uchicago.edu)
  • By challenging the traditional approach for drug discovery and development, this project has the potential to define 5-HT as a biological suppressor of toxic protein aggregation and to identify biomarkers of 5-HT-mediated therapeutics for prospective clinical studies in NP patients. (uminho.pt)
  • Patients who have recovered from coronavirus disease 2019 (COVID-19) infection may experience chronic fatigue when exercising, despite no obvious heart or lung abnormalities. (mdpi.com)
  • Objectives: This study aimed to investigate and compare sleep quality between patients with chronic temporomandibular disorder and healthy controls, and to analyze the association of sleep quality with disease characteristics, obstructive sleep apnea risk factors, and excessive daytime sleepiness. (preprints.org)
  • Methods: Chronic temporomandibular disorder patients (n=503) and 180 age- and sex-matched healthy controls were included, who completed well-organized clinical report and answered questions on sleep quality (Pittsburgh Sleep Quality Index), sleep apnea risk factors (STOP-Bang questionnaire), and excessive daytime sleepiness (Epworth sleepiness scale). (preprints.org)
  • We are interested in developing novel multi-ancestry statistical methods for fine-mapping disease genes and their cell types of action. (ucsd.edu)
  • As a result, our ability to identify disease-associated genes via TWAS should substantially improve due to (1) the enhanced identification of genes regulated by genetic variation and (2) the increased accuracy with which we can predict an individual's gene expression. (ucsd.edu)
  • One approach to infer causal genes in disease is a transcriptome-wide association study (TWAS). (ucsd.edu)
  • Comorbid insomnia originates from neurodegenerative, inflammatory, traumatic or ischemic changes in sleep regulating brainstem and hypothalamic nuclei with consecutive changes of neurotransmitters. (biomedcentral.com)
  • Due to its clinical and etiological heterogeneity, the molecular mechanisms underpinning MDD are complex and they are not fully understood. (frontiersin.org)
  • Olivopontocerebellar atrophy (OPCA) is a neurodegenerative syndrome characterized by prominent cerebellar and extrapyramidal signs, dysarthria, and dysphagia. (medscape.com)
  • Based on an unbiased screen, we found that activation of serotonergic signaling suppressed protein aggregation and restored motor behavior in animal models of polyglutamine diseases, establishing a mechanistic link between suppression of disease-protein toxicity and aggregation (proteotoxicity) and the neurotransmitter serotonin (5-HT). (uminho.pt)
  • She studies the involvement of disrupted molecular pathways and DNA methylation in neurodegenerative diseases using human post-mortem brain tissue. (wikipedia.org)
  • Since leprosy in its early stages can present an indolent and subclinical evolution, serological, molecular, and neurophysiological tools are essential to break the disease transmission chain. (bvsalud.org)
  • Interventional trials face several obstacles, namely those related with the clinical outcome measures used, which lack sensitivity for slow-progressing diseases such as MJD, and are devoid of utility in the preclinical stage, a time where molecular alterations are known to be already present. (ataxia.org)
  • Increased expression of the APP gene is also observed in individuals with Down syndrome, due to an additional copy on chromosome 21, these individuals usually show the disease in their fifth decade of life. (functionalmedsystem.com)
  • Isolated cardiomyopathy can be observed on rare occasion in the absence of clinical metabolic decompensation or neurocognitive deficits. (beds.ac.uk)
  • We are a statistical genetics lab focusing on developing methods to study complex traits and polygenic diseases across global populations, with a specific focus on minority groups that have been underrepresented in the fields of genetics and genomics. (ucsd.edu)
  • 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)
  • PGRN has been introduced among the secreted growth factors as one related to wound healing, inflammation, and human embryonic development, as well as a wide variety of autoimmune diseases. (biomedcentral.com)
  • 2006). The CAG repeat at the Huntington disease gene in the Portuguese population: Insights into its dynamics and to the origin of the mutation . (up.pt)
  • Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
  • It most commonly presents as a progressive and severe neurodegenerative disorder with onset within the first months or years of life, and may result in early death. (beds.ac.uk)
  • Alpha-mannosidosis encompasses a continuum of clinical findings from mild to severe. (nih.gov)
  • The potential use of plant natural products and plant extracts with antioxidant properties for the prevention/treatment of neurodegenerative diseases: in vitro, in vivo and clinical trials. (worktribe.com)
  • A volunteer participating in clinical trials of the COVID-19 vaccine developed by Oxford University has died in Brazil, officials announced Wednesday, though media reports said he had received a placebo, not the test vaccine. (medicalxpress.com)
  • The spectrum of propionic acidemia (PA) ranges from neonatal-onset to late-onset disease. (beds.ac.uk)
  • Bone marrow involvement in leprosy is rare and some authors believe the presence of M. leprae in the bone marrow can act as a reservoir of the disease facilitating future relapses. (bvsalud.org)
  • 2017). Rare neurodegenerative diseases: Clinical and genetic update . (up.pt)
  • 2012). CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion . (up.pt)
  • Este estudo transversal investigou a depressão como indicador do impacto psicológico do teste pré-sin- tomático (TPS) a médio (quatro anos) e longo prazo (de 7 a 10 anos) de doenças neurológicas de início tardio: a doença de Huntington (DH), doença de Machado-Joseph (DMJ) e polineuropatia amiloidótica familiar PAF (TTR V30M). (bvsalud.org)
  • This project addresses an unmet medical need- the lack of effective treatment for any of the aging-associated neurodegenerative diseases. (uminho.pt)
  • Preclinical Evidence Supporting Early Initiation of Citalopram Treatment in Machado-Joseph Disease. (uminho.pt)
  • Since 2010 he has been a PhD researcher at the Center for Neurosciences and Cell Biology (CNC-CIBB) at the University of Coimbra (UC), where he develops gene transfer systems for the development of disease models and treatment of neurodegenerative diseases. (cienciavitae.pt)
  • Disease Markers, 25 (2), 107 - 113. (up.pt)
  • 2012). Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions . (up.pt)
  • CNS-targeting therapies for lysosomal storage diseases: current advances and challenges. (gustavomaegawa.com)
  • Propranolol has been used for tremor, but the clinical response is generally minimal. (medscape.com)
  • Neurodegenerative diseases are closely related to age and are largely incurable conditions that weaken the patient, cause disability, lead to progressive degeneration and / or death of nerve cells. (functionalmedsystem.com)