A ataxia espinocerebelar tipo 3 (SCA3), também conhecida como doença de Machado-Joseph, é o subtipo mais comum da ataxia cerebelar autossômica dominante tipo 1 (ADCA tipo 1), um distúrbio neurodegenerativo e é caracterizada por ataxia, oftalmoplegia externa progressiva e outras manifestações neurológicas.
Introdução
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A ataxia espinocerebelar tipo 3 (SCA3), também conhecida como doença de Machado-Joseph, é o subtipo mais comum da ataxia cerebelar autossômica dominante tipo 1 (ADCA tipo 1), um distúrbio neurodegenerativo e é caracterizada por ataxia, oftalmoplegia externa progressiva e outras manifestações neurológicas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 36 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 65 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:16118278, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:33157014). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB
Nucleus matrixNucleusLysosome membrane
Spinocerebellar ataxia 3
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.
Variantes genéticas (ClinVar)
31 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 5,215 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Ataxia espinocerebelar tipo 3
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
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2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
35 ensaios clínicos encontrados, 6 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 622
Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.
Spinocerebellar Ataxia Type 3 (SCA3) is an autosomal dominant neurodegenerative Polyglutamine (polyQ) disease, caused by a cytosine-adenine-guanine (CAG) repeat expansion in the ATXN3 gene, resulting in an expanded polyQ tract in the Ataxin-3 protein. Although the principal genetic determinant of the age at onset (AAO) in polyQ diseases is the expanded CAG repeat length, variability in AAO has been explained only partly, suggesting the existence of additional genetic modifiers. Apolipoprotein E (APOE) haplotypes are associated with the risk of numerous, especially degenerative, diseases. Investigations of a potential role of APOE haplotypes in AAO variability of SCA3 have resulted in partly conflicting outcomes, with current evidence lacking power and patient diversity. To further clarify a potential modifying effect of APOE haplotypes on the AAO in SCA3, over 800 SCA3 patients from different origins were enrolled in the present study. While we did not find an association of common APOE haplotypes or singular APOE alleles with AAO in SCA3, rare ε4 homozygosity was linked to an earlier AAO in individuals from Brazil, with a mean disease onset six years earlier than carriers of other APOE haplotypes. Our study thus provides initial evidence for a relevant impact of ε4 homozygosity on disease onset in SCA3 and provides evidence supporting an allele-dosage effect of APOE ε4 in polyQ diseases.
Gastrodin inhibits the formation of ataxin-3 aggregates by regulating the level of ERK1/2/P38 proteins.
Spinocerebellar ataxia type 3 (SCA3/Machado-Joseph disease), an incurable autosomal dominant neurodegenerative disorder, is caused by cytotoxic aggregation of polyglutamine-expanded ataxin-3 protein. Novel therapeutic strategies targeting its pathogenesis are urgently needed. Given gastrodin’s established antioxidative and neuroprotective properties, this study investigated its therapeutic potential against SCA3 pathogenesis. Three distinct cell models including parental HEK293T, ataxin-3-15Q (physiologic), and ataxin-3-77Q (pathogenic) were employed to assess gastrodin cytotoxicity, quantify insoluble aggregate formation and measure soluble ataxin-3 levels. Mechanistic studies included antioxidant capacity assays, human phosphokinase array profiling (37 kinases) and western blot validation of MAPK pathway components. Gastrodin treatment showed no cytotoxicity, significantly suppressed ataxin-3-77Q aggregate accumulation (p < 0.01), increased soluble ataxin-3 levels, enhanced cellular antioxidant capacity and selectively downregulated ERK1/2 and p38 proteins in MAPK pathways. We provide first evidence that gastrodin mitigates polyQ-mediated proteotoxicity by reducing ataxin-3 aggregation through suppression of the ERK1/2-p38 signaling axis in cellular models, revealing a novel mechanistic basis for SCA3 therapeutic development. The online version contains supplementary material available at 10.1186/s13023-025-04089-1. Gastrodin’s safety profile was demonstrated in SCA3 cellular models at concentrations up to 100 µM without causing cytotoxicity. Gastrodin significantly reduced the formation of polyQ-expanded ataxin-3 aggregates. There was a dose-dependent increase in soluble ataxin-3 levels by gastrodin. Gastrodin was found to attenuate SCA3 proteotoxicity in cellular models by simultaneously decreasing the total protein levels of ERK1/2 and p38. The online version contains supplementary material available at 10.1186/s13023-025-04089-1.
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points.
Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician-reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short-term fluctuations, limiting its sensitivity in trials. To overcome this, we employed SARAhome, a video-based, self-administered tool for high-frequency, remote ataxia assessment. We assessed feasibility and validity of SARAhome in 65 SCA3 patients from seven centers. Participants recorded SARAhome twice daily for 14 days using a mobile e-health app. We analyzed adherence, intraindividual fluctuations and their predictors, and evaluated sensitivity to change in a longitudinal substudy of 11 patients. Adherence to the study protocol was generally high (80.2%) with valid scores in 79.2% of 1459 recordings. Maximum adherence occurred over a 4-day period (84.8%). Fluctuations ranged 3.0 points between lowest and highest scores (IQR: 2.5-4.5) and 1.0 point based on score IQRs (IQR: 0.5-1.5), corresponding to 10.7% and 3.6% of the maximal SARAhome score. Fluctuations showed rough agreement with patient global impression. Greater disease severity and longer CAG repeats were associated with smaller relative fluctuations. Over a median follow-up of 411 days, SARAhome showed higher sensitivity to change than conventional SARA (SRM: 0.67 vs. 0.37). SARAhome is a feasible, innovative video-based tool for remote, high-frequency monitoring of ataxia severity. A 4-day recording effectively captures relevant fluctuations and enhances sensitivity to change, supporting its use in future SCA3 trials.
Peripheral and autonomic nervous system involvement in spinocerebellar ataxia type 3: unveiling an invisible burden.
Neuropathological examinations in spinocerebellar ataxia type 3 (SCA3) have demonstrated peripheral and autonomic nervous system degeneration, but the impact of associated symptoms on genetically affected individuals at different disease stages remains understudied. To investigate the clinical burden of peripheral and autonomic nervous system involvement in SCA3 mutation carriers across the disease spectrum. Forty SCA3 mutation carriers, including ten pre-ataxic individuals, completed questionnaires about muscle cramps, neuropathic pain, autonomic symptoms, activities of daily living, and quality of life, and underwent a standardized clinical examination of ataxia and neuropathy severity. Data were compared with 16 healthy controls. All but one of the ataxic and 60% of pre-ataxic individuals experienced muscle cramps at least weekly. Neuropathic pain was reported by 20% of pre-ataxic and 16.7% of ataxic mutation carriers, while the average number of autonomic symptoms in both groups was 2 and 4.7, respectively. Neuropathy severity scores were significantly higher in pre-ataxic and ataxic individuals than in healthy controls and associated with (i) worse self-reported functional status and (ii) clinician-reported ataxia severity. The number of autonomic symptoms was associated with patient-reported impairments in daily life and quality of life. Clinical features of peripheral and autonomic nervous system degeneration are very common in SCA3, may already be observed in pre-ataxic individuals, and independently contribute to patient-reported disease burden and clinician-rated overall ataxia severity.
Investigating the pathogenic role of calpain proteases and the therapeutic potential of their inhibition in mice modelling Machado-Joseph disease.
Machado-Joseph disease (MJD, also known as spinocerebellar ataxia type-3) is a fatal disease characterised by motor impairments and the presence of aggregated ataxin-3, the protein affected in MJD, in degenerating brain regions. Ataxin-3 protein aggregates have previously been reported to contain both full-length ataxin-3 protein and shorter protein fragments, highlighting proteolytic cleavage as a pathogenic mechanism. Calpains, calcium-activated proteases, have been reported to cleave ataxin-3 and have been implicated in MJD pathogenesis. This study aimed to explore whether calpain proteases were overactive at early, pathogenesis-relevant timepoints in male transgenic CMVMJD135 mice modelling MJD and identify the timepoint of calpain overactivation through obtaining longitudinal plasma samples. We detected increased levels of cleaved αII-spectrin in plasma from MJD mice as early as 12 weeks of age, shortly after the onset of neurological symptoms. Cerebellar and brainstem tissue from 15-week-old mice was immunoblotted, revealing a trend towards increased levels of calpain 1, and increased cleavage of calpain substrates such as αII-spectrin, beclin-1 and TAR DNA binding protein 43 (TDP-43) within the cerebellum. Further, we found that short-term treatment of male MJD mice (from 10 to 12 weeks of age) with the calpain inhibitor compound calpeptin yielded improvements in neurological symptoms and reduced the presence of cleaved αII-spectrin in plasma and cerebellum tissue when compared to vehicle treated MJD males. Our findings suggest that calpain overactivity may be an early disease phenotype that contributes to neurodegeneration in transgenic CMVMJD135 mice modelling MJD, and that calpeptin warrants further investigation as a potential treatment for MJD.
Publicações recentes
Association Between Cerebellar Metabolic Markers and Activities of Daily Living in Patients With Spinocerebellar Ataxia Type 3.
The association between diplopia and clinical phenotypes in spinocerebellar ataxia type 3.
Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.
Modulation of the Stress Granule Component Carhsp1 Mitigates Disease-Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models.
Extracellular vesicles-mediated delivery of SpCas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3.
📚 EuropePMC493 artigos no totalmostrando 190
Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.
Human molecular geneticsModulation of the Stress Granule Component Carhsp1 Mitigates Disease-Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models.
Movement disorders : official journal of the Movement Disorder SocietyExtracellular vesicles-mediated delivery of SpCas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3.
BiomaterialsRetrotransposition Events Shape the Evolution of the Ataxin-3 Gene Family in Primates.
Genome biology and evolutionRelationship of subclinical lung injury to chronic airway inflammation in spinocerebellar ataxia type 3.
Orphanet journal of rare diseasesIGFBP1 as a metabolic-neurodegenerative biomarker in spinocerebellar ataxia type 3.
Experimental and therapeutic medicinePediatric-onset spinocerebellar ataxia type 3 with dual ATXN3 and HTT gene mutations: a case report and literature-informed hypothesis.
Frontiers in geneticsGastrodin inhibits the formation of ataxin-3 aggregates by regulating the level of ERK1/2/P38 proteins.
Orphanet journal of rare diseasesTCF4 intronic CAG repeat length modulates the effect of ATXN3 on age at onset in spinocerebellar ataxia type 3.
Journal of advanced researchCerebellar magnetic stimulation increased beta power and phase synchronisation in spinocerebellar ataxia type 3.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologySingle-Cell RNA Sequencing Reveals Impaired CHIP-Mediated Heat Stress Response in SCA3 Pathogenesis.
Molecular neurobiologyPeripheral metabolic profiles in spinocerebellar ataxia type 3: Features and genotype-phenotype links.
Parkinsonism & related disordersCognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates.
Neurobiology of diseaseRepurposing of natural products for spinocerebellar ataxia type 3 using integrated network pharmacology and in silico approaches.
Scientific reportsEarly transcriptomic perturbations highlight the spinal cord as a key pathogenic region in spinocerebellar ataxia type 3.
Frontiers in cellular neuroscienceRedox environment modulates aggregation of ataxin-3 in vitro - Implications for drug screening of cysteine-rich proteins.
The FEBS journalRemote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points.
Annals of clinical and translational neurologyElectrophysiological Evidence of Visual Dysfunction in SCA3: PERG/PVEP as Novel Biomarkers for Ataxia Severity and Cognitive Decline.
Movement disorders : official journal of the Movement Disorder SocietyPeripheral and autonomic nervous system involvement in spinocerebellar ataxia type 3: unveiling an invisible burden.
Journal of neurologyInvestigating the pathogenic role of calpain proteases and the therapeutic potential of their inhibition in mice modelling Machado-Joseph disease.
Human molecular geneticsContinuous visual stimulus tracking to quantify eye motility in spinocerebellar ataxia type 3.
Frontiers in neurologyDiffusion along perivascular spaces as a marker for Glymphatic system impairment in spinocerebellar Ataxia type 3.
Neurobiology of diseaseBrain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
EBioMedicineRegional brain atrophy subtypes in spinocerebellar ataxia type 3: links to clinical performance and treatment response.
Journal of neurologyLong-term globus pallidus internus deep brain stimulation in a young patient with spinocerebellar ataxia type 3 initially presenting with levodopa-responsive parkinsonism: a 6-year follow-up case report and literature review.
Therapeutic advances in neurological disordersInterpretable machine learning for differentiating SCA3 and MSA-C using gait and postural features from wearable sensors.
Journal of neuroengineering and rehabilitationManaging symptoms and improving the quality of life of persons with Machado-Joseph disease.
Expert review of neurotherapeuticsAllosteric Modulation of Pathological Ataxin-3 Aggregation: A Path to Spinocerebellar Ataxia Type-3 Therapies.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)The Goal Attainment Scale in Spinocerebellar Ataxia Type 3: Exploration of Feasibility and Content Validity.
Cerebellum (London, England)Pragmatic Feasibility Study Combining Cerebello-spinal Neuromodulation and Exercise in Spinocerebellar Ataxia Type 3: A 20-session Single-arm Protocol.
Cerebellum (London, England)Spinocerebellar Ataxia Type 3 Accompanied by Amyotrophic Lateral Sclerosis: A Case Report and Comprehensive Literature Review.
Internal medicine (Tokyo, Japan)Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3: An electric field modelling study.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyInvestigation of the large-scale white-matter functional networks in spinocerebellar ataxia type 3.
Quantitative imaging in medicine and surgeryFrom Mutations to Microbes: Investigating the Impact of the Gut Microbiome on Repeat Expansion Disorders.
Journal of neurochemistryAtaxin-3 Overexpression via Adeno-associated Viral Vector Injection in the Primate Cerebellum: A Novel Model of Spinocerebellar Ataxia Type 3.
Experimental neurobiologyMultidimensional abnormal gait analysis and biomarker identification for patients with spinocerebellar ataxia type 3 using an Azure Kinect-based motion capture system.
Gait & postureThe Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort.
CNS drugsExtracellular vesicles-associated AAVs for the treatment of Machado-Joseph disease.
Molecular therapy : the journal of the American Society of Gene TherapyPeripheral inflammation in spinocerebellar ataxia type 3: associations with genetic and clinical manifestations.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]Cerebello-cortical inhibition underlies the effects of cerebellar magnetic stimulation on spinocerebellar ataxia type 3: A randomized controlled trial.
Brain stimulationDysphagia linked to clinical phenotype and disease progression in spinocerebellar ataxia type 3.
European journal of medical researchArticle Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease.
Cerebellum (London, England)Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.
BMC neurologym6A modulates RAN translation from CAG repeat expansion RNA.
Aggregate (Hoboken, N.J.)Dysarthria in Spinocerebellar Ataxia Type 3: Prevalence and Disease Progression.
Journal of speech, language, and hearing research : JSLHRFamilial spinocerebellar ataxia type 3: A case report of multi-generational presentation.
MedicineDistribution of perivascular spaces distribution and relate to the clinical features of SCA3.
Orphanet journal of rare diseasesAltered static and dynamic spontaneous brain activity patterns in spinocerebellar ataxia type3 patients.
Journal of neurologyCo-occurrence of Wilson's Disease and Spinocerebellar Ataxia Type 3 in a Chinese Patient.
Acta neurologica BelgicaDifferential impact of mutant Ataxin-3 in hindbrain regions: further evidence of white matter loss as a core pathological feature.
Experimental neurologyChoroid plexus enlargement correlated with motor dysfunction in spinocerebellar ataxia type 3.
Neurobiology of diseaseMagnetic resonance imaging for spinocerebellar ataxia: a bibliometric analysis based on web of science.
Frontiers in neurologyGene editing for Spinocerebellar ataxia type 3 taking advantage of the human ATXN3L paralog as replacement gene.
Gene therapySpinocerebellar ataxia type 3: from pathogenesis to promising therapeutics.
Trends in molecular medicineCircadian rhythms are disrupted in patients and preclinical models of Machado-Joseph disease.
Brain : a journal of neurologyInfluence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.
Acta neuropathologica communicationsProgression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort.
The Lancet regional health. Europe7T magnetic resonance imaging-based investigation of the correlation between mammillary body structure and cognitive impairment in patients with spinocerebellar ataxia type 3.
PsychoradiologyTranscranial alternating current stimulation for treating spinocerebellar ataxia type 3: A randomized controlled trial.
Cell reports. MedicineIntegrative role of diet and gut microbiome dynamics for the interventive therapeutics of Spinocerebellar ataxia type 3: The current update.
NeuroscienceFeasibility of repetitive transcranial magnetic stimulation on non-motor symptoms of spinocerebellar ataxia type 3: a secondary analysis of a randomized clinical trial.
Frontiers in neurologyProgressive subcortical involvement as spinocerebellar ataxia type 3 advances.
Orphanet journal of rare diseasesMachado-Joseph disease in Brazil and other South American countries: A systematic Review and Meta-analysis of Prevalence, CAG Repeat Lengths, Age At Onset, and Ancestry.
Cerebellum (London, England)Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study.
Human geneticsTherapeutic Effects of Hemerocallis citrina Baroni Extract on Animal Models of Neurodegenerative Diseases Through Serotonin and HLH-30/TFEB-Dependent Mechanisms.
International journal of molecular sciencesClinical Characteristics of Spinocerebellar Ataxia Type 3 in Uruguay.
Cerebellum (London, England)Differential effects of lifespan-extending genetic manipulations in an animal model of MJD/SCA3.
Mechanisms of ageing and developmentAltered Brain Iron Depositions of Spinocerebellar Ataxia Type 3: From Pre-Symptomatic to Symptomatic Stage.
European journal of neurologyDecreased Peripheral Blood Lymphocytes in Spinocerebellar Ataxia Type 3 Correlate with Disease Severity.
Movement disorders : official journal of the Movement Disorder SocietyGenome editing in spinocerebellar ataxia type 3 cells improves Golgi apparatus structure.
Scientific reportsLongitudinal description of health-related quality of life and depressive symptoms in polyQ spinocerebellar ataxia patients.
Journal of neurologyMisdiagnosis of spinocerebellar ataxia type 3 as persistent postural-perceptual dizziness: A case report.
MedicineBeyond the cerebellum: perivascular space burden in spinocerebellar ataxia type 3 extends to multiple brain regions.
Brain communicationsFatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3.
European journal of neurologyCAG-targeted brain-permeable therapy tested in biallelic humanized polyQ mouse models.
Molecular therapy. Nucleic acidsWhole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.
Neurology IndiaGeneration of an induced pluripotent stem cell (iPSC) line (INNDSUi008-A) from a patient with Spinocerebellar Ataxia Type 3.
Stem cell researchProgression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort.
medRxiv : the preprint server for health sciencesPredicting Which Mitophagy Proteins Are Dysregulated in Spinocerebellar Ataxia Type 3 (SCA3) Using the Auto-p2docking Pipeline.
International journal of molecular sciencesEffects of trace element dysregulation on brain structure and function in spinocerebellar Ataxia type 3.
Neurobiology of diseaseCerebellar lipid dysregulation in SCA3: A comparative study in patients and mice.
Neurobiology of diseaseEmerging Deep Brain Stimulation Targets in the Cerebellum for Tremor.
Cerebellum (London, England)Assessment of Peripheral Neuropathy Using Current Perception Threshold Measurement in Patients with Spinocerebellar Ataxia Type 3.
Cerebellum (London, England)Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study.
Orphanet journal of rare diseasesStatic Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre-ataxic Spinocerebellar Ataxia Type 3 Patients.
Movement disorders : official journal of the Movement Disorder SocietyErinacine A-Enriched Hericium erinaceus Mycelium Ethanol Extract Lessens Cellular Damage in Cell and Drosophila Models of Spinocerebellar Ataxia Type 3 by Improvement of Nrf2 Activation.
Antioxidants (Basel, Switzerland)White matter functional and structural alterations of spinocerebellar ataxia type 3: A longitudinal MRI study.
NeuroscienceApolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3.
European journal of neurologyGray Matter Asymmetry Alterations in Patients With Spinocerebellar Ataxia Type 3: A Voxel-Based Morphometric Comparison Study.
CNS neuroscience & therapeuticsBiochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species.
PloS oneGenetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China.
Movement disorders : official journal of the Movement Disorder SocietyRegional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.
Journal of neurologyThe volume of the subthalamic nucleus in spinocerebellar ataxia type 3: potential relevance for the clinical phenotype and treatment of parkinsonian symptoms with deep brain stimulation.
Journal of neurologyGeneration of induced pluripotent stem cell line (ZZUi037-A) from a patient with spinocerebellar ataxia type 3.
Stem cell researchEvolutionary model of repeat insertions in Ataxin-3 traces the origin of the polyglutamine stretch to an ancestral ubiquitin binding module.
Protein science : a publication of the Protein SocietySplit hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report.
BMC neurologyPotential Disease-Modifying Effects of Ganglioside GM1 Pulse Treatment on Spinocerebellar Ataxia Type 3, a Parallel-Group, Double-Blind, Randomized, Controlled Trial.
Movement disorders : official journal of the Movement Disorder SocietyAstragaloside IV reduces mutant Ataxin-3 levels and supports mitochondrial function in Spinocerebellar Ataxia Type 3.
Scientific reportsMorphological changes of cerebral gray matter in spinocerebellar ataxia type 3 using fractal dimension analysis.
Progress in brain researchAge-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.
Human geneticsStep Width Estimation in Individuals With and Without Neurodegenerative Disease via a Novel Data-Augmentation Deep Learning Model and Minimal Wearable Inertial Sensors.
IEEE journal of biomedical and health informaticsATXN3: a multifunctional protein involved in the polyglutamine disease spinocerebellar ataxia type 3.
Expert reviews in molecular medicineTreatment of neurological pathology and inflammation in Machado-Joseph disease through in vivo self-assembled siRNA.
Brain : a journal of neurologyThermal Facial Profile and Orofacial Myofunctional Aspects in Movement Disorder Patients: Comparison Between Parkinson Disease and Spinocerebellar Ataxia Type 3.
Journal of oral rehabilitationFructose-2,6-bisphosphate restores DNA repair activity of PNKP and ameliorates neurodegenerative symptoms in Huntington's disease.
Proceedings of the National Academy of Sciences of the United States of AmericaPIAS1 S510G variant acts as a genetic modifier of spinocerebellar ataxia type 3 by selectively impairing mutant ataxin-3 proteostasis.
The international journal of biochemistry & cell biologyInvestigation of Spinocerebellar Ataxia (SCA) Disease in Iranian Patients and Accurate Trinucleotide Repeat Detection in the SCA3 by TP-PCR Method.
Molecular neurobiologySpecific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment.
International journal of molecular sciencesPreimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG)n Repeat Expansion.
International journal of molecular sciencesThe parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Acta neuropathologicaIdentifying extracerebellar characteristics in a large cohort of 319 Chinese patients with spinocerebellar ataxia type 3.
Chinese medical journalExploring functional and structural connectivity disruptions in spinocerebellar ataxia type 3: Insights from gradient analysis.
CNS neuroscience & therapeuticsProduction of Spinocerebellar Ataxia Type 3 Model Mice by Intravenous Injection of AAV-PHP.B Vectors.
International journal of molecular sciencesCaffeine Consumption and Interaction with ADORA2A, CYP1A2 and NOS1 Variants Do Not Influence Age at Onset of Machado-Joseph Disease.
Cerebellum (London, England)Trehalose prevents the formation of aggregates of mutant ataxin-3 and reduces soluble ataxin-3 protein levels in an SCA3 cell model.
NeuroscienceImbalanced optimal feedback motor control system in spinocerebellar ataxia type 3.
European journal of neurologyDisrupted cerebellar structural connectome in spinocerebellar ataxia type 3 and its association with transcriptional profiles.
Cerebral cortex (New York, N.Y. : 1991)Randomized double-blind placebo-controlled trial of the effects of oral trehalose in spinocerebellar ataxia type 3: An interim analysis.
Parkinsonism & related disordersDisease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia.
Neurology. GeneticsMolecular therapy for polyQ disorders: from bench to clinical trials.
Trends in molecular medicineInsight into the early pathogenesis and therapeutic strategies of spinocerebellar ataxia type 3/machado-joseph disease from mouse models.
Parkinsonism & related disordersA combination of chlorzoxazone and folic acid improves recognition memory, anxiety and depression in SCA3-84Q mice.
Human molecular geneticsClinical Presentation and Neuro-Ophthalmological Features in Spinocerebellar Ataxia Type 3: A Case Report and Literature Review.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietySpinocerebellar Ataxia Type 3 Pathophysiology-Implications for Translational Research and Clinical Studies.
International journal of molecular sciencesGene editing as a therapeutic strategy for spinocerebellar ataxia type-3.
Revue neurologiqueMolecular Imaging in CANVAS: A Contribution for Differential Diagnosis?
Movement disorders clinical practiceEffect of Regional Brain Activity Following Repeat Transcranial Magnetic Stimulation in SCA3: A Secondary Analysis of a Randomized Clinical Trial.
Cerebellum (London, England)Oxidative Stress in Spinocerebellar Ataxia Type 3 and Its Attenuation by Herbal Remedies in Traditional Chinese Medicine: A Systematic Review.
Antioxidants (Basel, Switzerland)The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases.
The Biochemical journalSpermidine treatment: induction of autophagy but also apoptosis?
Molecular brainASOs are an effective treatment for disease-associated oligodendrocyte signatures in premanifest and symptomatic SCA3 mice.
Molecular therapy : the journal of the American Society of Gene TherapyDrosophila melanogaster Neuromuscular Junction as a Model to Study Synaptopathies and Neuronal Autophagy.
Methods in molecular biology (Clifton, N.J.)Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Neurobiology of diseaseCompressed cerebellar functional connectome hierarchy in spinocerebellar ataxia type 3.
Human brain mappingInvestigating the therapeutic effects of novel compounds targeting inflammatory IL-1β and IL-6 signaling pathways in spinocerebellar ataxia type 3.
European journal of pharmacologyTreatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyThe natural breakthrough: phytochemicals as potent therapeutic agents against spinocerebellar ataxia type 3.
Scientific reportsGlucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3.
The Journal of clinical investigationEfficiency of PGK1 proteins delivered to the brain via a liposomal system through intranasal route administration for the treatment of spinocerebellar ataxia type 3.
Drug delivery and translational researchCell-Free and In Vivo Characterization of the Inhibitory Activity of Lavado Cocoa Flavanols on the Amyloid Protein Ataxin-3: Toward New Approaches against Spinocerebellar Ataxia Type 3.
ACS chemical neuroscienceCognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Cortex; a journal devoted to the study of the nervous system and behaviorA model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes.
Frontiers in geneticsProgression of Retinal Ganglion Cell and Nerve Fiber Layer Loss in Spinocerebellar Ataxia 3 Patients.
Cerebellum (London, England)Efficacy and Safety of Repetitive Transcranial Magnetic Stimulation in Spinocerebellar Ataxia Type 3: a Systematic Review and Meta‑analysis of Randomized Controlled Trials.
Cerebellum (London, England)Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Annals of neurologyUNC-49 is a redox-sensitive GABAA receptor that regulates the mitochondrial unfolded protein response cell nonautonomously.
Science advancesEstablishment of human-induced pluripotent stem cell GZHMCi0011-A from peripheral blood mononuclear cells from a volunteer with 14/63 CAG repeats of the ATXN3 mutation.
Stem cell researchLysine 117 on ataxin-3 modulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3.
Journal of the neurological sciencesMemory decline, anxiety and depression in the mouse model of spinocerebellar ataxia type 3.
Human molecular geneticsCognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3.
Journal of neurologyPreconditioning of exosomes derived from human olfactory ensheathing cells improved motor coordination and balance in an SCA3/MJD mouse model: A new therapeutic approach.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical SciencesCase report: Short-term efficacy and changes in 18F-FDG-PET with acute multi-target stimulation in spinocerebellar ataxia type 3 (SCA3/MJD).
Frontiers in neurologyA pilot study: handgrip as a predictor in the disease progression of SCA3.
Orphanet journal of rare diseasesBlood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3.
Disease models & mechanismsThe vestibular symptomatology of Machado-Joseph Disease.
Journal of vestibular research : equilibrium & orientationVoxel-based meta-analysis of gray matter and white matter changes in patients with spinocerebellar ataxia type 3.
Frontiers in neurologyDrug repurposing of dopaminergic drugs to inhibit ataxin-3 aggregation.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieGenetic Epidemiology and Clinical Characteristics of Patients with Spinocerebellar Ataxias in an Unexplored Brazilian State, Using Strategies for Resource-Limited Settings.
Cerebellum (London, England)Genetic Ablation of Inositol 1,4,5-Trisphosphate Receptor Type 2 (IP3R2) Fails to Modify Disease Progression in a Mouse Model of Spinocerebellar Ataxia Type 3.
International journal of molecular sciencesTherapeutic effects of engineered exosome-based miR-25 and miR-181a treatment in spinocerebellar ataxia type 3 mice by silencing ATXN3.
Molecular medicine (Cambridge, Mass.)Efficacy of cerebellar transcranial magnetic stimulation in spinocerebellar ataxia type 3: a randomized, single-blinded, controlled trial.
Journal of neurologyNeurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia.
Frontiers in systems neuroscienceTissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease.
CellsAltered large-scale individual-based morphological brain network in spinocerebellar ataxia type 3.
CNS neuroscience & therapeuticsInhibition of the MEK/ERK pathway suppresses immune overactivation and mitigates TDP-43 toxicity in a Drosophila model of ALS.
Immunity & ageing : I & AImplications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease.
Frontiers in molecular neuroscienceAntisense Oligonucleotide Silencing Reverses Abnormal Neurochemistry in Spinocerebellar Ataxia 3 Mice.
Annals of neurologyEfficacy of high-frequency repetitive transcranial magnetic stimulation in a family with spinocerebellar ataxia type 3: A case report.
HeliyonDifferences in spontaneous speech fluency between Parkinson's disease and spinocerebellar ataxia type 3.
Frontiers in neurologyThe longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD.
Journal of neurologyEffects of cerebellar transcranial alternating current stimulation in cerebellar ataxia: study protocol for a randomised controlled trial.
Frontiers in neuroscienceEffectiveness of High-Frequency Repetitive Transcranial Magnetic Stimulation in Patients With Spinocerebellar Ataxia Type 3.
The journal of ECTRegional and age-dependent changes in ubiquitination in cellular and mouse models of spinocerebellar ataxia type 3.
Frontiers in molecular neuroscienceTemporal Relationship between Impairment of Cerebellar Motor Learning and Deterioration of Ataxia in Patients with Cerebellar Degeneration.
Cerebellum (London, England)Autophagy in Spinocerebellar Ataxia Type 3: From Pathogenesis to Therapeutics.
International journal of molecular sciencesBlood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Brain : a journal of neurologyImpaired interactions of ataxin-3 with protein complexes reveals their specific structure and functions in SCA3 Ki150 model.
Frontiers in molecular neuroscienceExtracellular vesicle-based delivery of silencing sequences for the treatment of Machado-Joseph disease/spinocerebellar ataxia type 3.
Molecular therapy : the journal of the American Society of Gene TherapySynaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography.
Movement disorders : official journal of the Movement Disorder SocietyThe Josephin domain (JD) containing proteins are predicted to bind to the same interactors: Implications for spinocerebellar ataxia type 3 (SCA3) studies using Drosophila melanogaster mutants.
Frontiers in molecular neuroscienceAutophagic vacuolar myopathy involving the phenotype of spinocerebellar ataxia type 3.
Neuropathology : official journal of the Japanese Society of NeuropathologyAutophagy Function and Benefits of Autophagy Induction in Models of Spinocerebellar Ataxia Type 3.
CellsHorizontal Vestibulo-Ocular Reflex Deficit as a Biomarker for Clinical Disease Onset, Severity, and Progression of Machado-Joseph Disease.
Cerebellum (London, England)ATXN3 controls DNA replication and transcription by regulating chromatin structure.
Nucleic acids researchBlood neurofilament light chain levels are associated with disease progression in a transgenic SCA3 mouse model.
bioRxiv : the preprint server for biologyEip74EF is a dominant modifier for ALS-FTD-linked VCPR152H phenotypes in the Drosophila eye model.
BMC research notesDisease-associated oligodendrocyte signatures are spatiotemporally dysregulated in spinocerebellar ataxia type 3.
Frontiers in neuroscience"I Do Not Know How You Feel and How I Feel About That": Mentalizing Impairments in Machado-Joseph Disease.
Cerebellum (London, England)The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research.
BiomedicinesA standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Neuropathology and applied neurobiologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.
- Gastrodin inhibits the formation of ataxin-3 aggregates by regulating the level of ERK1/2/P38 proteins.
- Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points.
- Peripheral and autonomic nervous system involvement in spinocerebellar ataxia type 3: unveiling an invisible burden.
- Investigating the pathogenic role of calpain proteases and the therapeutic potential of their inhibition in mice modelling Machado-Joseph disease.
- Association Between Cerebellar Metabolic Markers and Activities of Daily Living in Patients With Spinocerebellar Ataxia Type 3.
- The association between diplopia and clinical phenotypes in spinocerebellar ataxia type 3.
- Modulation of the Stress Granule Component Carhsp1 Mitigates Disease-Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models.
- Extracellular vesicles-mediated delivery of SpCas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98757(Orphanet)
- OMIM OMIM:109150(OMIM)
- MONDO:0007182(MONDO)
- GARD:6801(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q3026441(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
