A doença de Machado-Joseph tipo 2 é um subtipo da doença de Machado-Joseph (também conhecida como SCA3/DMJ) com gravidade intermediária. Ela é caracterizada por se manifestar em uma idade mediana, pela falta de coordenação dos movimentos (ataxia cerebelar) e por uma dificuldade progressiva para movimentar os olhos (oftalmoplegia externa progressiva), com sinais variáveis que afetam os movimentos voluntários e involuntários do corpo.
Introdução
O que você precisa saber de cara
A doença de Machado-Joseph tipo 2 é um subtipo da doença de Machado-Joseph (também conhecida como SCA3/DMJ) com gravidade intermediária. Ela é caracterizada por se manifestar em uma idade mediana, pela falta de coordenação dos movimentos (ataxia cerebelar) e por uma dificuldade progressiva para movimentar os olhos (oftalmoplegia externa progressiva), com sinais variáveis que afetam os movimentos voluntários e involuntários do corpo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 34 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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.
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 — Doença de Machado–Joseph, tipo 2
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
Publicações mais relevantes
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.
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.
Extracellular vesicles-associated AAVs for the treatment of Machado-Joseph disease.
Machado-Joseph disease (MJD) is the most common dominant autosomal inherited ataxia worldwide, caused by the overrepetition of the trinucleotide CAG in the ATXN3 gene. This leads to the accumulation of mutant ataxin-3 protein and neurodegeneration. Currently, treatment remains symptomatic, although gene therapy has emerged as a promising approach. However, efficient and minimally invasive gene delivery to the brain remains a challenge. Extracellular vesicle-associated adeno-associated virus (EV-AAV) vectors are a novel delivery system, combining the ability of AAV vectors to deliver genes with the capacity of extracellular vesicles to bypass the immune system and cross the blood-brain barrier (BBB). Previous studies, however, have only combined AAV serotypes known to efficiently cross the BBB with EVs as a non-invasive delivery system to the brain. Thus, the ability of EV-AAVs to cross the BBB remained inconclusive. In this study, we evaluated whether AAV1/2 serotype, combined with rabies virus glycoprotein (RVg)-coated EVs, could effectively target the brain. Two isolation methods, differential ultracentrifugation and size-exclusion chromatography (SEC) were compared, with SEC yielding higher EV recovery. Moreover, RVg-EV-AAV1/2 successfully crossed the BBB and transduced mouse brains, leading to motor and neuropathologic improvements in an MJD mouse model. This study demonstrates that RVg-EV-AAVs are promising non-invasive delivery systems for MJD gene therapy.
Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates.
Cognitive deficits are common in spinocerebellar ataxia type 3 (SCA3), but their neurobiological correlates remain largely unknown. To investigate cognitive performance in a large international cohort of SCA3 mutation carriers covering the entire disease course and to explore associations with posterior cerebellar volumes, basal ganglia and thalamus volumes, and plasma neurofilament light chain (NfL) concentration. The Montreal Cognitive Assessment (MoCA) was used to evaluate cognitive impairment in this prospective, observational cohort study involving 13 ataxia referral centers. Standardized motor assessments, brain MR imaging, and peripheral blood biosampling were also performed. MoCA data were collected from 61 pre-ataxic SCA3 mutation carriers, 231 ataxic SCA3 patients, and 111 healthy controls. After adjustments for educational level and age, there were significant differences in MoCA total score, as well as visuospatial/executive, attention, language, and abstraction subscores, between healthy controls and ataxic, but not pre-ataxic individuals. MoCA scores declined with ataxia severity, especially in patients with a lower educational level. Patients with a MoCA score < 26 had lower pallidal volumes and higher plasma NfL concentrations than those with a score ≥ 26. However, only the interaction term between ataxia severity and educational level was independently associated with cognitive performance in multivariable regression analyses containing demographic, clinical, volumetric, and biochemical parameters. Cognitive deficits in SCA3 generally appear after clinical ataxia onset and progress in parallel with ataxia severity, especially in patients with a lower cognitive reserve. Other measured biochemical and imaging parameters did not have a significant additional contribution.
Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
Spinocerebellar ataxia type 3 (SCA3) is characterised by progressive brain atrophy, with regional volume loss detectable via MRI prior to clinical manifestation. We aimed to identify the previously unknown sequence of brain atrophy in SCA3 and evaluate whether this sequence can be translated into an atrophy staging framework to enable accurate clinical prognosis and trial enrichment. We included data from 322 SCA3 mutation carriers, enrolled in observational studies conducted across Europe, the Americas, and Asia. Participants underwent follow-up assessments up to five years after baseline. The Subtype and Stage Inference machine learning algorithm was applied to estimate the most likely atrophy sequence(s) from baseline anatomical MRI. The Scale for the Assessment and Rating of Ataxia (SARA) was used to capture ataxia severity. Atrophy stages were analysed in relation to SARA and time from disease onset. Interventional trials were simulated to estimate required sample sizes under different atrophy stage eligibility criteria. We identified a uniform sequence of brain atrophy in SCA3, characterised by earliest volumetric decline in the caudal brainstem and substantial involvement of the white matter. Atrophy stage was associated with both SARA and time from disease onset. Atrophy staging outperformed single-region volumetrics in predicting SARA over time. Applying atrophy stage cut-offs substantially reduced the sample sizes needed to adequately power hypothetical clinical trials. These findings yield mechanistic insights into the progression of neurodegeneration in SCA3 and possess immediate translational relevance, facilitating patient stratification and sample enrichment for interventional trials. National Ataxia Foundation (NAF).
Publicações recentes
Extracellular vesicles-mediated delivery of SpCas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3.
Revisited case for intranasal neuropeptide Y based therapeutics: From preclinical to clinical.
Retrotransposition Events Shape the Evolution of the Ataxin-3 Gene Family in Primates.
IGFBP1 as a metabolic-neurodegenerative biomarker in spinocerebellar ataxia type 3.
Gastrodin inhibits the formation of ataxin-3 aggregates by regulating the level of ERK1/2/P38 proteins.
📚 EuropePMC582 artigos no totalmostrando 170
Gastrodin inhibits the formation of ataxin-3 aggregates by regulating the level of ERK1/2/P38 proteins.
Orphanet journal of rare diseasesCognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates.
Neurobiology of diseasePeripheral and autonomic nervous system involvement in spinocerebellar ataxia type 3: unveiling an invisible burden.
Journal of neurologyBrain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
EBioMedicineThe 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 TherapyCerebello-cortical inhibition underlies the effects of cerebellar magnetic stimulation on spinocerebellar ataxia type 3: A randomized controlled trial.
Brain stimulationFamilial spinocerebellar ataxia type 3: A case report of multi-generational presentation.
MedicineAltered static and dynamic spontaneous brain activity patterns in spinocerebellar ataxia type3 patients.
Journal of neurologyCircadian 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 communicationsTranscranial alternating current stimulation for treating spinocerebellar ataxia type 3: A randomized controlled trial.
Cell reports. MedicineMachado-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)Differential effects of lifespan-extending genetic manipulations in an animal model of MJD/SCA3.
Mechanisms of ageing and developmentMisdiagnosis of spinocerebellar ataxia type 3 as persistent postural-perceptual dizziness: A case report.
MedicineFatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3.
European journal of neurologyMovement Disorders in Hereditary Cerebellar Ataxia.
Movement disorders clinical practiceAssessment of Peripheral Neuropathy Using Current Perception Threshold Measurement in Patients with Spinocerebellar Ataxia Type 3.
Cerebellum (London, England)Step Width Haptic Feedback for Gait Stability in Spinocerebellar Ataxia: Preliminary Results.
Movement disorders : official journal of the Movement Disorder SocietyGenetic 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 SocietyTreatment of neurological pathology and inflammation in Machado-Joseph disease through in vivo self-assembled siRNA.
Brain : a journal of neurologyPolyneuropathy in Patients with Spinocerebellar Ataxias Types 2, 3, and 10: A Systematic Review.
Cerebellum (London, England)Production of Spinocerebellar Ataxia Type 3 Model Mice by Intravenous Injection of AAV-PHP.B Vectors.
International journal of molecular sciencesRandomized double-blind placebo-controlled trial of the effects of oral trehalose in spinocerebellar ataxia type 3: An interim analysis.
Parkinsonism & related disordersSingle-Session Cerebellar Transcranial Direct Current Stimulation Improves Postural Stability and Reduces Ataxia Symptoms in Spinocerebellar Ataxia.
Cerebellum (London, England)Investigating 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 reportsCell-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 neurologyIL-4/STAT6 axis observed to reverse proliferative defect in SCA3 patient-derived neural progenitor cells.
Clinical and experimental pharmacology & physiologyPrevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan.
Journal of human geneticsCognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3.
Journal of neurologyCase report: Short-term efficacy and changes in 18F-FDG-PET with acute multi-target stimulation in spinocerebellar ataxia type 3 (SCA3/MJD).
Frontiers in neurologyGenetic 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 sciencesEfficacy of cerebellar transcranial magnetic stimulation in spinocerebellar ataxia type 3: a randomized, single-blinded, controlled trial.
Journal of neurologyTissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease.
CellsImplications 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 neurologyEffectiveness of High-Frequency Repetitive Transcranial Magnetic Stimulation in Patients With Spinocerebellar Ataxia Type 3.
The journal of ECTExtracellular 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 SocietyAutophagic vacuolar myopathy involving the phenotype of spinocerebellar ataxia type 3.
Neuropathology : official journal of the Japanese Society of NeuropathologyOutcomes with Finerenone in Participants with Stage 4 CKD and Type 2 Diabetes: A FIDELITY Subgroup Analysis.
Clinical journal of the American Society of Nephrology : CJASNThe 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 neurobiologyBaseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
NeurologyEffect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3.
Arquivos de neuro-psiquiatriaShort-term efficacy of repetitive transcranial magnetic stimulation in SCA3: A prospective, randomized, double-blind, sham-controlled study.
Parkinsonism & related disordersThe stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits.
Brain : a journal of neurologyAltered brain white matter structural motor network in spinocerebellar ataxia type 3.
Annals of clinical and translational neurologyThe frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Journal of neurologyCharacterization of the central motor conduction time in a large cohort of spinocerebellar ataxia type 3 patients.
Parkinsonism & related disordersSleep Alterations in a Mouse Model of Spinocerebellar Ataxia Type 3.
CellsProgression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado-Joseph Disease.
Movement disorders : official journal of the Movement Disorder SocietyCoenzyme Q10 Supplementation Increases Removal of the ATXN3 Polyglutamine Repeat, Reducing Cerebellar Degeneration and Improving Motor Dysfunction in Murine Spinocerebellar Ataxia Type 3.
NutrientsThe Natural History of Spinocerebellar Ataxia Type 3 in Mainland China: A 2-Year Cohort Study.
Frontiers in aging neuroscienceDifferential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.
Movement disorders : official journal of the Movement Disorder SocietyBody sway and movement strategies for control of postural stability in people with spinocerebellar ataxia type 3: A cross-sectional study.
Clinical biomechanics (Bristol, Avon)Altered retinal structure and function in Spinocerebellar ataxia type 3.
Neurobiology of diseaseThe progression rate of spinocerebellar ataxia type 3 varies with disease stage.
Journal of translational medicineAssociation between cortical gyrification and white matter integrity in spinocerebellar ataxia type 3.
Cerebral cortex (New York, N.Y. : 1991)Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D2 and Serotonin 1A and 2A Receptors in C. elegans.
BiomedicinesAnti-Excitotoxic Effects of N-Butylidenephthalide Revealed by Chemically Insulted Purkinje Progenitor Cells Derived from SCA3 iPSCs.
International journal of molecular sciencesFinerenone in Patients With Chronic Kidney Disease and Type 2 Diabetes According to Baseline HbA1c and Insulin Use: An Analysis From the FIDELIO-DKD Study.
Diabetes carePreclinical Assessment of Mesenchymal-Stem-Cell-Based Therapies in Spinocerebellar Ataxia Type 3.
BiomedicinesCharacterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.
Movement disorders : official journal of the Movement Disorder SocietyA Young Japanese Patient with Spinocerebellar Ataxia Type 3 Presenting Depressive State with Cenesthopathy and Delusion: a Case Report.
Cerebellum (London, England)CRISPR/Cas9 mediated gene correction ameliorates abnormal phenotypes in spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cells.
Translational psychiatryExploring the clinical meaningfulness of the Scale for the Assessment and Rating of Ataxia: A comparison of patient and physician perspectives at the item level.
Parkinsonism & related disordersSodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo.
Molecular brainULK overexpression mitigates motor deficits and neuropathology in mouse models of Machado-Joseph disease.
Molecular therapy : the journal of the American Society of Gene TherapyNeurocognitive Changes in Spinocerebellar Ataxia Type 3: A Systematic Review with a Narrative Design.
Cerebellum (London, England)Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Cerebellum (London, England)Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Movement disorders : official journal of the Movement Disorder SocietyNew Model for Estimation of the Age at Onset in Spinocerebellar Ataxia Type 3.
NeurologySmall Molecule Rescue of ATXN3 Toxicity in C. elegans via TFEB/HLH-30.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsSARS-CoV-2 vaccination modelling for safe surgery to save lives: data from an international prospective cohort study.
The British journal of surgeryA fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3.
Cell death & diseaseInverse associations between cerebellar inhibition and motor impairment in spinocerebellar ataxia type 3.
Brain stimulationPathological ATX3 Expression Induces Cell Perturbations in E. coli as Revealed by Biochemical and Biophysical Investigations.
International journal of molecular sciencesPre-ataxic Changes of Clinical Scales and Eye Movement in Machado-Joseph Disease: BIGPRO Study.
Movement disorders : official journal of the Movement Disorder Society[Detection and analysis of dynamic variant in a pedigree affected with spinocerebellar ataxia type 3].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsOverexpression of FKH-2/FOXG1 is neuroprotective in a C. elegans model of Machado-Joseph disease.
Experimental neurologyStatic and Dynamic Ocular Motor Abnormalities as Potential Biomarkers in Spinocerebellar Ataxia Type 3.
Cerebellum (London, England)Effects of Rivastigmine on Patients with Spinocerebellar Ataxia Type 3: A Case Series of Five Patients.
Neuro-degenerative diseasesPrediction of the Age at Onset of Spinocerebellar Ataxia Type 3 with Machine Learning.
Movement disorders : official journal of the Movement Disorder SocietyCAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.
Annals of neurologyWhich Factors in Spinocerebellar Ataxia Type 3 Patients Are Associated with Restless Legs Syndrome/Willis-Ekbom Disease?
Cerebellum (London, England)Effects of cerebellar transcranial magnetic stimulation on ataxias: A randomized trial.
Parkinsonism & related disordersCorticospinal tract involvement in spinocerebellar ataxia type 3: a diffusion tensor imaging study.
NeuroradiologyThe blood-brain barrier is disrupted in Machado-Joseph disease/spinocerebellar ataxia type 3: evidence from transgenic mice and human post-mortem samples.
Acta neuropathologica communicationsGenotype-phenotype correlation in 667 Chinese families with spinocerebellar ataxia type 3.
Parkinsonism & related disordersGrowth hormone rescue cerebellar degeneration in SCA3 transgenic mice.
Biochemical and biophysical research communicationsUbiquilin-2 differentially regulates polyglutamine disease proteins.
Human molecular geneticsFactors Associated with Intergenerational Instability of ATXN3 CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3.
Cerebellum (London, England)In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3.
Movement disorders : official journal of the Movement Disorder SocietyA 5-Year Longitudinal Clinical and Magnetic Resonance Imaging Study in Spinocerebellar Ataxia Type 3.
Movement disorders : official journal of the Movement Disorder SocietyNeurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.
EMBO molecular medicineVertical pons hyperintensity and hot cross bun sign in cerebellar-type multiple system atrophy and spinocerebellar ataxia type 3.
BMC neurologySpinocerebellar Atrophy Type-3 with Chiari Malformation in a Young Man: A Case Report.
Advanced journal of emergency medicineTrehalose alleviates the phenotype of Machado-Joseph disease mouse models.
Journal of translational medicineDNAJB6, a Key Factor in Neuronal Sensitivity to Amyloidogenesis.
Molecular cellFounder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.
Cerebellum (London, England)Selective Procedural Memory Impairment but Preserved Declarative Memory in Spinocerebellar Ataxia Type 3.
Cerebellum (London, England)Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia type 3 disease protein.
Neurobiology of diseaseNeurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3.
Molecular neurodegenerationRemoval of the Polyglutamine Repeat of Ataxin-3 by Redirecting pre-mRNA Processing.
International journal of molecular sciencesVariation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Neuromolecular medicineDifferential toxicity of ataxin-3 isoforms in Drosophila models of Spinocerebellar Ataxia Type 3.
Neurobiology of diseaseSelection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects.
Journal of molecular neuroscience : MNCerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study.
BMC neurologyRNA Expression Profile and Potential Biomarkers in Patients With Spinocerebellar Ataxia Type 3 From Mainland China.
Frontiers in geneticsPrediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Movement disorders : official journal of the Movement Disorder SocietyAltered Levels of Proteins and Phosphoproteins, in the Absence of Early Causative Transcriptional Changes, Shape the Molecular Pathogenesis in the Brain of Young Presymptomatic Ki91 SCA3/MJD Mouse.
Molecular neurobiologyProtective roles of carbonic anhydrase 8 in Machado-Joseph Disease.
Journal of neuroscience researchIdentification of a potential exosomal biomarker in spinocerebellar ataxia Type 3/Machado-Joseph disease.
EpigenomicsDivalproex sodium regulates ataxin-3 translocation likely by an importin α1-dependent pathway.
NeuroreportAssociation between restless legs syndrome and other movement disorders.
NeurologyRNA Interference Therapy for Machado-Joseph Disease: Long-Term Safety Profile of Lentiviral Vectors Encoding Short Hairpin RNAs Targeting Mutant Ataxin-3.
Human gene therapyVulnerability of frontal brain neurons for the toxicity of expanded ataxin-3.
Human molecular geneticsGenetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis.
Journal of neurology, neurosurgery, and psychiatryWriter's cramp: a new dystonic feature in spinocerebellar ataxia type 3.
Acta neurologica BelgicaCitalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease.
Molecular neurobiologyDystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?
The open neurology journalTranscriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model.
Molecular neurodegenerationOlfactory Function in SCA10.
Cerebellum (London, England)ATXN3 Positively Regulates Type I IFN Antiviral Response by Deubiquitinating and Stabilizing HDAC3.
Journal of immunology (Baltimore, Md. : 1950)Body composition in Spinocerebellar ataxia type 3 and 10 patients: Comparative study with control group.
Nutritional neuroscienceA diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging.
Journal of the neurological sciencesNeuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3.
Movement disorders : official journal of the Movement Disorder SocietyPlanning Future Clinical Trials for Machado-Joseph Disease.
Advances in experimental medicine and biologyThe Neuropathology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Advances in experimental medicine and biologyHuman Olfactory Ensheathing Cell Transplantation Improves Motor Function in a Mouse Model of Type 3 Spinocerebellar Ataxia.
Cell transplantationCaffeic acid and resveratrol ameliorate cellular damage in cell and Drosophila models of spinocerebellar ataxia type 3 through upregulation of Nrf2 pathway.
Free radical biology & medicineSequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects.
Journal of the neurological sciencesPeripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Frontiers in neurologyAntisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice.
Molecular therapy. Nucleic acidsThe Truncated C-terminal Fragment of Mutant ATXN3 Disrupts Mitochondria Dynamics in Spinocerebellar Ataxia Type 3 Models.
Frontiers in molecular neuroscienceEvaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models.
Molecular therapy. Nucleic acidsArginine vasopressin relates with spatial learning and memory in a mouse model of spinocerebellar ataxia type 3.
NeuropeptidesCancer in Machado-Joseph disease patients-low frequency as a cause of death.
Cancer geneticsExpanded and Wild-type Ataxin-3 Modify the Redox Status of SH-SY5Y Cells Overexpressing α-Synuclein.
Neurochemical researchn-Butylidenephthalide exhibits protection against neurotoxicity through regulation of tryptophan 2, 3 dioxygenase in spinocerebellar ataxia type 3.
NeuropharmacologyInteraction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3.
Human molecular geneticsProteolytic Cleavage of Polyglutamine Disease-Causing Proteins: Revisiting the Toxic Fragment Hypothesis.
Current pharmaceutical designDysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3.
NeuroscienceInduced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3.
Stem cell researchPhonoarticulation in spinocerebellar ataxia type 3.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryVestibulo-ocular reflex dynamics with head-impulses discriminates spinocerebellar ataxias types 1, 2 and 3 and Friedreich ataxia.
Journal of vestibular research : equilibrium & orientationFatigue and Its Associated Factors in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Cerebellum (London, England)In vivo assessment of riluzole as a potential therapeutic drug for spinocerebellar ataxia type 3.
Journal of neurochemistrySpinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence.
NeurogeneticsSpinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.
Clinical geneticsDystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis.
Parkinsonism & related disordersDoes degeneration of the subthalamic nucleus prevent parkinsonism in spinocerebellar ataxia type 2 and type 3?
Brain : a journal of neurologyCytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.
Cerebellum (London, England)Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.
Cerebellum & ataxiasPlanning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial.
Journal of the neurological sciencesT1-11 and JMF1907 ameliorate polyglutamine-expanded ataxin-3-induced neurodegeneration, transcriptional dysregulation and ataxic symptom in the SCA3 transgenic mouse.
NeuropharmacologyPolyglutamine aggregation in Huntington's disease and spinocerebellar ataxia type 3: similar mechanisms in aggregate formation.
Neuropathology and applied neurobiologyPsychiatric disorders, spinocerebellar ataxia type 3 and CAG expansion.
Journal of neurologyTwo novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients.
PloS oneNerve growth factor for the treatment of spinocerebellar ataxia type 3: an open-label study.
Chinese medical journalSpinocerebellar ataxia type 3/Machado-Joseph disease manifested as spastic paraplegia: A clinical and genetic study.
Experimental and therapeutic medicineAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença de Machado–Joseph, tipo 2.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Doença de Machado–Joseph, tipo 2
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Gastrodin inhibits the formation of ataxin-3 aggregates by regulating the level of ERK1/2/P38 proteins.
- Peripheral and autonomic nervous system involvement in spinocerebellar ataxia type 3: unveiling an invisible burden.
- Extracellular vesicles-associated AAVs for the treatment of Machado-Joseph disease.Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 41077785mais citado
- Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates.
- Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
- Extracellular vesicles-mediated delivery of SpCas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3.
- Revisited case for intranasal neuropeptide Y based therapeutics: From preclinical to clinical.
- Retrotransposition Events Shape the Evolution of the Ataxin-3 Gene Family in Primates.
- IGFBP1 as a metabolic-neurodegenerative biomarker in spinocerebellar ataxia type 3.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:276241(Orphanet)
- MONDO:0017175(MONDO)
- GARD:21049(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55345983(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