Doença de Machado-Joseph (DMJ), também conhecida por ataxia SCA3, é uma neuropatologia rara, de origem genética, que se manifesta por uma progressiva ataxia cerebelar traduzida em crescente perda do controle muscular e da coordenação motora nos membros superiores e inferiores, oftalmoplegia, perturbações da visão e dificuldades na fala e no engolir.
Introdução
O que você precisa saber de cara
Síndrome parkinsoniana rara associada a doenças neurodegenerativas, caracterizada por rigidez, tremores e bradicinesia. A progressão varia, afetando a mobilidade e funções cognitivas.
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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
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 — Síndrome parkinsoniana rara por doença neurodegenerativa
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Hypothalamic atrophy in progressive supranuclear palsy, assessed by convolutional neural network-based automatic segmentation.
The hypothalamus as one of the core structures in metabolic control is increasingly recognized to be morphologically altered in various neurodegenerative diseases. The purpose of this study was to quantitatively investigate the hypothalamic volumes in patients with progressive supranuclear palsy (PSP) and to compare them with controls and Parkinson disease (PD) patients. An automatic hypothalamic volume quantification method based on the use of convolutional neural networks (CNN) of U-Net architecture was applied to the automatic segmentation of the hypothalamus and intracranial volumes (ICV). This CNN-based volumetric analysis was performed in high resolution T1 weighted MRI in two PSP cohorts: cohort A with 78 PSP patients and 63 controls was recorded at 3.0 T at multiple sites; the single site cohort B consisted of 66 PSP patients, 66 PD patients, and 44 controls, recorded at 1.5 T. In cohort A, significant hypothalamic volume reduction was observed in PSP (774 ± 83 mm3) when compared to controls (817 ± 74 mm3). In cohort B, this result of significant hypothalamic volume reduction was confirmed in PSP (745 ± 102 mm3) when compared to controls (831 ± 81 mm3); no significant hypothalamic volume reduction was observed in PD (797 ± 98 mm3), in support of previous studies. The CNN-based hypothalamus volume quantification study demonstrated significantly reduced hypothalamus volumes in PSP patients compared to controls and PD, respectively; future studies will address the metabolic profiles of PSP as potential functional correlates.
Association of Bassoon (BSN) Gene Mutations With Gait and Motor Impairments in Parkinson's Disease.
Parkinson's disease (PD) is a neurodegenerative syndrome with diverse biological drivers, where gait and balance dysfunction remain among the most disabling and least understood symptoms. Bassoon (BSN), a presynaptic active-zone organizer, has been implicated in various parkinsonian disorders. Here, we report the impact of BSN mutations on motor symptoms, especially gait-related symptoms, in PD patients. Our study included 110 patients carrying BSN mutations in a cohort of 668 South Asian early-onset PD (age of onset < 50 years). Clinical motor features were compared between variant carriers and noncarriers. Computational tools (CADD, PolyPhen-2, I-Mutant2.0 and ConSurf) predicted deleteriousness of individual mutations, whereas GeneMANIA and STRING speculated Bassoon's functional interactions. Subjects carrying BSN variants exhibited significantly increased burden of motor-related symptoms (p = 0.036). Freezing of gait (FOG) and shuffling gait (SG) were significantly more prevalent in BSN mutation carriers (p = 0.03). Presence of BSN mutation correlated with an increased disease stage, an effect driven by FOG and SG (p = 0.012). Rare BSN mutations (MAF < 0.1%) clustered in the Bassoon C-terminal region (aa 3500-3800), at a threefold frequency than expected (p < 0.01), implying a hotspot. In silico analysis identified seven likely pathogenic variants (P171L, A852T, P988A, R1015H, R2561H, R3400W and L3561P). Predictive analyses implicated BSN in axonal transport, presynaptic proteostasis and neurotransmitter release in dopaminergic/cholinergic neurons. Our findings put forth BSN mutations as a potential genetic risk factor for PD-related motor and gait dysfunction, warranting further research in this respect.
Self-reporting quality of life in mild-to-moderate Alzheimer's disease and Lewy body dementia: Comparing capability and health-focused measures using response process validation.
Capability measures offer theoretical advantages for assessing wellbeing in health economics and outcomes research, yet their feasibility for self-reporting by people living with dementia remains to be established. This exploratory study compares the feasibility of self-reporting on capability versus health-focused quality of life measures among people living with mild-tomoderate dementia, using response process validation. Twenty-three community-dwelling participants living with Alzheimer's disease (n = 11) or Lewy body dementia (n = 12) completed four measures using concurrent think-aloud cognitive interviewing: two capability measures (ICECAP-O, ICECAP-SCM) and two health-focused measures (QoL-AD, and AQoL-4D). Errors were coded using Tourangeau's four-stage response model (comprehension, retrieval, judgement, response). Completion times, support requirements, and error patterns were compared across measures and diagnostic groups. Capability measures showed higher error rates (13.7-18.3%) than health-related measures (5.1-8.4%) despite shorter completion times. Comprehension errors (51.2% of all errors) were most common across all measures, particularly for abstract concepts like dignity and doing things that make you feel valued. Retrieval errors were rare (4.9%), suggesting memory is not the primary barrier. Diagnostic groups showed distinct error profiles. Participants living with Lewy body dementia showed higher rates of comprehension errors (57.4% vs 42.9%), whilst participants living with Alzheimer's disease showed more response-selection difficulties (25.7% vs 14.9%). While self-reporting remains feasible in mild-to-moderate Alzheimer's disease and Lewy body dementia, capability measures pose greater cognitive demands than health-focused measures, primarily due to comprehension of abstract concepts and distinguishing capability from functioning rather than memory retrieval. Measures should be validated for specific dementia subtypes, and hybrid approaches anchoring capability judgements in concrete experiences warrant exploration. This exploratory study provides preliminary response process validity evidence to inform measure selection in dementia research and clinical practice, ensuring people living with dementia can meaningfully participate in health economics and policy decisions that affect their care.
CHCHD2 links mitochondrial dysfunction and α-synuclein misfolding in Parkinson's disease.
Parkinson's disease comprises multiple biological subtypes and a heterogeneous clinical course. A recent study by Liao et al. identifies CHCHD2 mutations as a mitochondrial entry point that links metabolic dysfunction to α-synuclein pathology. These findings highlight how rare sporadiclike monogenic forms of Parkinson's disease may inform mechanistic and therapeutic stratification.
Spontaneous tauopathy with parkinsonism in an aged cynomolgus macaque.
Aged non-human primates have been reported to develop tau pathology; however, most studies lack evidence of any associated neurological symptoms. To determine whether spontaneous tauopathy in cynomolgus macaques manifests with neurological symptoms, we evaluated a symptomatic aged monkey (Monkey T) alongside an asymptomatic control (Monkey A). Two male cynomolgus macaques, aged 33-34 years old at the time of necropsy, were examined. They were evaluated using comprehensive behavioral, pathological, and genetic analyses. Monkey T exhibited progressive neurological symptoms for approximately two years prior to euthanasia, including tremors, nuchal dystonia, and a flexed posture, whereas Monkey A showed no abnormalities. Monkey T demonstrated persistent tremors (6.9 ± 0.7 Hz) and reduced daily motor activity, with modest improvement following L-DOPA administration. Neuropathological evaluation revealed brainstem atrophy and mild depigmentation of the substantia nigra and locus coeruleus. Extensive phosphorylated tau accumulation was observed throughout the brainstem tegmentum, including neurofibrillary tangles, threads, coiled bodies, and astrocytic inclusions. All tau lesions were positive for 4-repeat tau and negative for 3-repeat tau. MAPT sequencing identified four non-pathogenic 3'UTR variants differing between the two monkeys. Isoform analysis showed balanced 3R/4R tau expression in Monkey A but an approximately 1.3-fold increase in 4R tau in Monkey T. The parkinsonian symptoms observed in Monkey T were more likely attributable to widespread tau pathology in the brainstem rather than overt degeneration of the nigrostriatal dopaminergic system. This case represents a rare instance of spontaneous tauopathy in an aged cynomolgus macaque, a condition that is extremely difficult to reproduce experimentally. These findings highlight the potential value of cynomolgus macaques as a relevant model for studying sporadic tauopathies, including tau seeding mechanisms.
Publicações recentes
The Effects of Digital Health Interventions on Motor Symptoms, Nonmotor Symptoms, and Quality of Life in Patients With Parkinson Disease: Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Hypothalamic atrophy in progressive supranuclear palsy, assessed by convolutional neural network-based automatic segmentation.
Association of Bassoon (BSN) Gene Mutations With Gait and Motor Impairments in Parkinson's Disease.
Self-reporting quality of life in mild-to-moderate Alzheimer's disease and Lewy body dementia: Comparing capability and health-focused measures using response process validation.
CHCHD2 links mitochondrial dysfunction and α-synuclein misfolding in Parkinson's disease.
📚 EuropePMCmostrando 199
The Effects of Digital Health Interventions on Motor Symptoms, Nonmotor Symptoms, and Quality of Life in Patients With Parkinson Disease: Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Journal of medical Internet researchHypothalamic atrophy in progressive supranuclear palsy, assessed by convolutional neural network-based automatic segmentation.
Journal of neurologyAssociation of Bassoon (BSN) Gene Mutations With Gait and Motor Impairments in Parkinson's Disease.
The European journal of neuroscienceSelf-reporting quality of life in mild-to-moderate Alzheimer's disease and Lewy body dementia: Comparing capability and health-focused measures using response process validation.
Social science & medicine (1982)CHCHD2 links mitochondrial dysfunction and α-synuclein misfolding in Parkinson's disease.
Trends in neurosciencesFamilial young-onset Parkinson's disease associated with SNCA gene duplication: a case series of three sisters from Turkey.
NeurocaseSpontaneous tauopathy with parkinsonism in an aged cynomolgus macaque.
Frontiers in aging neuroscienceLevodopa intolerance as a potential clinical red flag for neuronal intranuclear inclusion disease (NIID) in atypical parkinsonism: a case report.
BMC neurologyReal-time detection and subtyping of "On-meds" freezing of gait in Parkinson's disease using lower-limb acceleration data.
Journal of neurologyBlastocystis hominis infection inducing gut microbiome dysbiosis and aggravating Parkinson's disease symptoms: a case report.
Journal of medical case reportsPrompting and Fine-Tuning Large Language Models for Parkinson Disease Diagnosis: Comparative Evaluation Study Using the PPMI Structured Dataset.
JMIR medical informaticsRisk factors and outcome of dopamine dysregulation syndrome in a large Chinese Parkinson's disease cohort.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyAn updated definition of freezing of gait.
Nature reviews. NeurologyPearls & Oy-sters: Hereditary Spastic Paraplegia Type 15 Presenting as Juvenile Onset Levodopa-Responsive Parkinsonism.
NeurologyNo evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson's disease.
GeneWernicke's encephalopathy unmasking progressive supranuclear palsy and Alzheimer's pathology: a diagnostic challenge in an older adult.
BMJ case reportsZonisamide-induced pleural effusion and agranulocytosis: a case report of a rare adverse reaction.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyAkkermansia muciniphila: A double-edged sword in life-stage-specific nutritional modulation of Parkinson's disease via the gut-brain axis.
Microbiological researchWES-Based Screening of a Swedish Patient Series with Parkinson's Disease.
GenesParaneoplastic progressive Supranuclear palsy: a case report and literature review.
Oxford medical case reportsAge-Related Differences in the Association between REM Sleep and the Polygenic Risk for Parkinson's Disease.
Annals of neurologyComputerized cognitive training vs. care as usual to strengthen cognitive, motor, and (neuro)psychological outcomes in people with advanced Parkinson's disease (TrainParC-Advanced): study protocol of a randomized controlled trial.
TrialsBridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Scientific reportsSelf-delivered arousal-heightening stimuli to improve mobility in persons with parkinsonism: A case series.
Journal of Parkinson's diseaseSubthalamic DBS-induced diphasic dyskinesias: An overlooked complication?
Parkinsonism & related disordersAssessment of SLC25A46 variants in idiopathic Parkinson's disease.
Parkinsonism & related disordersCurrent advances in the clinical management of Perry syndrome: is there hope for the future?
Expert review of neurotherapeuticsLack of association between G6PD variants and Parkinson disease.
HGG advancesAAV gene therapy for GBA1-related diseases.
Molecular therapy : the journal of the American Society of Gene TherapyNDPACX: a newly defined X-linked Parkinsonian syndrome associated with SLC9A6 hemizygote mutation.
Brain communicationsPractices, Resources and Challenges in Parkinson's Disease Management in Asia: Movement Disorders in Asia Study Group Report.
Movement disorders clinical practiceExamination of simple artificial intelligence-based analysis of dopamine transporter scintigraphy for supporting a diagnosis of Parkinson's disease.
Annals of nuclear medicineA rare case report of acute severe hypokalemia induced by monosialotetrahexosylganglioside therapy.
MedicineAdvances in the genetics and pathology of Lewy body dementia.
The Lancet. NeurologyAn international 20 country patient and physician survey of the usability and acceptability of Stepped Care pathway in Parkinson's disease.
Scientific reportsSuccessful resolution of Capgras syndrome with rivastigmine treatment in Lewy body dementia.
BMJ case reportsBiallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease.
Clinical geneticsC-terminus-dependent detection of lysosomal alpha-synuclein in nigral Parkinson's disease human brain neurons.
Molecular neurodegenerationA Variant of OTUD3 in Early-Onset Parkinsonism.
Neuropathology and applied neurobiologyCerebral amyloid angiopathy-related inflammation superimposed on alpha-synucleinopathies: a case report and literature review.
Journal of neuroimmunologyToward Biology-Driven Diagnosis of Atypical Parkinsonian Disorders.
NeuroSciTelephone-based cognitive screening in neurodegenerative MCI and dementia: preliminary findings from the TBCS Study.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyParkinson's disease mild cognitive impairment with MRI evidence of cholinergic nucleus 4 degeneration: A new subtype?
Parkinsonism & related disordersLysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
International journal of molecular sciencesDelayed emergence of parkinson's disease after reversible manganese-induced parkinsonism: a case report.
BMC neurologyRare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder SocietyRAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies.
Annals of clinical and translational neurologyMutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Annals of neurologyParkinsonism-Hyperpyrexia Syndrome Following Deep Brain Stimulation Battery Depletion during the COVID-19 Pandemic: A Case Series and Review of the Literature.
Movement disorders clinical practiceA novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.
Molecular neurodegenerationRepeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease: ATXN2, ATXN3, CACNA1A, PRNP, TBP, C9ORF72, TOMM40, APOE, and POLG-A Swedish Perspective.
International journal of molecular sciencesEffectiveness of virtual reality rehabilitation with exergames on functional rehabilitation in Parkinson's disease: a systematic review of chronic randomized controlled trials.
Expert review of neurotherapeuticsGinsenoside Rk3 Alleviates Neuroinflammation and Gastrointestinal Dysfunction in Parkinson's Disease via Modulation of Gut Microbiota-Mediated Butyric Acid Metabolism.
Journal of agricultural and food chemistryMoyamoya Disease and the Risk of Parkinson's Disease.
Annals of clinical and translational neurologyProteomics of Patient-Derived Striatal Medium Spiny Neurons in Multiple System Atrophy.
CellsIn-vivo evidence of synucleinopathy in parkinsonism due to VCP mutation.
Journal of neural transmission (Vienna, Austria : 1996)Preliminary observations of glucose metabolism dysregulation in pediatric Huntington's disease.
Frontiers in neurologyA Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder SocietyHomer-3 antibody in autoimmune cerebellar syndromes: a potentially treatable mimic of MSA-C - A review.
Frontiers in immunologyCompound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder SocietyPrevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals.
Movement disorders : official journal of the Movement Disorder SocietyPlasma Markers of Astrocytic and Axonal Integrity in Idiopathic/Isolated REM Sleep Behavior Disorder (iRBD) as Predictors of Dementia with Lewy Bodies.
Movement disorders : official journal of the Movement Disorder SocietyAssociation of sustained extremely low income and income decrease with the risk of Parkinson's disease: A population-based nationwide cohort study in Korea.
Preventive medicineGenetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease.
Parkinsonism & related disordersThe Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.
American journal of human geneticsDevelopment and Characterization of a Novel α-Synuclein-PEST H4 Cell Line for Enhanced Drug Screening in α-Synucleinopathies.
International journal of molecular sciencesMorphological profiling reveals neuroprotection via mitochondrial uncoupling in human dopaminergic neurons.
Scientific reportsGenetically Predict Diet-derived Antioxidants and Risk of Neurodegenerative Diseases Among Individuals of European Descent: A Mendelian Randomization Study.
Brain and behaviorTau uptake by human neurons depends on receptor LRP1 and kinase LRRK2.
The EMBO journalComputational association in parkinson's disease SNPs with brain structural and functional alterations.
Neurogenetics[Sporadic form of Guam disease (ALS-parkinsonism-dementia complex)].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaAmyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.
Nature communicationsGenetic analysis of TMEM230 variants in Han Chinese patients with Parkinson's disease.
Neuroscience lettersBrain Bleeding Associated With Cavitation During Focused Ultrasound Ablation.
NeurosurgeryLysosomal glucocerebrosidase is needed for ciliary Hedgehog signaling: A convergent pathway contributing to Parkinson's disease.
Proceedings of the National Academy of Sciences of the United States of AmericaCognitive outcomes of infusion therapies in Parkinson's disease: A comprehensive systematic review.
Parkinsonism & related disordersThe Parkinson Disease-Associated Mutant DNAJC13(N855S) Leads to Its Accelerated Degradation and Negatively Affects Macroautophagy and Retromer Complex-Mediated Dynamics.
Journal of cellular physiologyLung function and the risk of Parkinson's disease: a population-based cohort study.
Journal of neurologyPPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's disease.
Cell reportsThe role of blood-based biomarkers in Parkinsonian disorders, Alzheimer's disease and frontotemporal dementia.
Journal of the neurological sciencesSynaptic enrichment of pSer129 alpha-synuclein correlates with dopaminergic denervation in early-stage Parkinson's disease.
Nature communicationsEfficacy of various acupuncture modalities on alleviating symptoms in Parkinson's disease: a systematic review and meta-analysis of randomized controlled trials.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyProdromal, established, and advanced Parkinson's disease and atypical parkinsonisms: Prevalence and healthcare service utilization in the Catalan Health Surveillance System (Catpark study).
Parkinsonism & related disordersEngineered Clostridium butyricum-pMTL007-GLP-1 Delays Neurodegeneration in Prnp-SNCA*A53T Transgenic Mice Model by Suppressing Astrocyte Senescence.
Probiotics and antimicrobial proteinsAssociation between alcohol consumption and mortality in Parkinson's disease.
Journal of neural transmission (Vienna, Austria : 1996)Music-based intervention as a new therapeutic treatment for executive dysfunction in Parkinson's disease.
NeuroscienceLoss-of-function coding variants in the Ras of complex proteins/GTPase domain of leucine rich repeat kinase 2.
Protein science : a publication of the Protein SocietyExploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyLewy-MSA hybrid fold drives distinct neuronal α-synuclein pathology.
Communications biologyDifferential Effects of Levodopa and Stimulation on Post-Surgery Freezing of Gait in Subthalamic Nucleus Deep Brain Stimulation Parkinson's Disease Patients: A Clinical and Kinematic Analysis.
Movement disorders clinical practiceThe compensatory effect of education as revealed by resting-state electroencephalographic alpha rhythms in patients with dementia due to Parkinson's disease: findings from an exploratory study.
GeroScienceANKK1, ANKRD50, GRK5, PACSIN1 and VPS8 are novel candidate genes associated with late onset Parkinson's disease: Definition of a novel predictive protocol based on polygenic model of inheritance.
Neurobiology of diseasePhenotypic Diversity in Stress-induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures: Novel Associations with Parkinsonism, Icthyosis and Cataract.
Cerebellum (London, England)Vascular parkinsonism: an update.
Journal of neural transmission (Vienna, Austria : 1996)The Genetic Architecture of Parkinson's Disease in Morocco: Highlighting a Predominance of Mendelian Genes.
Neuro-degenerative diseasesAn Extremely Rare Case of Gastroptosis Treated Successfully with Itopride in a Patient with Parkinson's Disease.
The Nigerian postgraduate medical journalClinical and genetic characteristics of PLA2G6-related parkinsonism in Southwest China and a comprehensive literature review.
Journal of medical geneticsDyskinesia-Hyperpyrexia Syndrome in Parkinson's Disease May Benefit from GPi Deep Brain Stimulation: A Case Report.
Tremor and other hyperkinetic movements (New York, N.Y.)Identifying Common Disease Trajectories of Progressive Supranuclear Palsy with Electronic Health Records.
Movement disorders clinical practiceEarly thinking palliative care for people with Parkinson's disease: A thematic synthesis based on a systematic mixed-methods review.
Journal of Parkinson's diseaseIncreased burden of rare risk variants across gene expression networks predisposes to sporadic Parkinson's disease.
Cell reportsImpact of LRRK2 and GBA variants on orthostatic hypotension in patients with Parkinson's disease.
Journal of neurologyTics and Parkinson's Disease: Clinical and Pathophysiological Insights from a Rare Syndromic Association.
Movement disorders clinical practiceConcomitant progressive supranuclear palsy and multiple system atrophy: A rare case report of tauopathy and synucleinopathy interface.
Journal of neuroradiology = Journal de neuroradiologieUncovering Important Diagnostic Features for Alzheimer's, Parkinson's and Other Dementias Using Interpretable Association Mining Methods.
Pacific Symposium on Biocomputing. Pacific Symposium on BiocomputingGenome-Wide Association Study of Glucocerebrosidase Activity Modifiers.
Molecular neurobiologyDeep brain stimulation alleviates Parkinsonian motor deficits through desynchronizing GABA release in mice.
Nature communicationsIdentification of DAGLB variants in Japanese early-onset Parkinson's disease.
Journal of neural transmission (Vienna, Austria : 1996)Sidransky Syndrome-GBA1-Related Parkinson's Disease and Its Targeted Therapies.
International journal of molecular sciencesParkinson's Spectrum Mechanisms in Pregnancy: Exploring Hypothetical Scenarios for MSA in the Era of ART.
International journal of molecular sciencesConcomitant Pathologies and Their Impact on Parkinson Disease: A Narrative Overview of Current Evidence.
International journal of molecular sciencesOptical coherence tomography reveals retinal structural abnormalities in α-synucleinopathies: insights from the Padua-CESNE cohort.
Journal of neural transmission (Vienna, Austria : 1996)Analysis of intracerebral abscesses in Deep Brain Stimulation and association with hardware-related wound complications.
Journal of the Formosan Medical Association = Taiwan yi zhiCo-occurrence of parkinson disease and multiple sclerosis - a critical note.
Journal of neural transmission (Vienna, Austria : 1996)Exploring Diagnostic Markers and Therapeutic Targets in Parkinson's Disease: A Comprehensive 1H-NMR Metabolomic Analysis - Systematic Review.
Archivum immunologiae et therapiae experimentalisCommander complex regulates lysosomal function and is implicated in Parkinson's disease risk.
Science (New York, N.Y.)Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.
Annals of neurologyTet2 loss and enhanced ciliogenesis suppress α-synuclein pathology.
Acta neuropathologica communicationsProgranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA-CESNE Cohort.
Movement disorders clinical practiceLevodopa induces thyroid function regulation in a patient with thyroid hormone resistance and Parkinson's disease: a case report.
Frontiers in endocrinologyMotor-Cognitive Dual-Task Cost and Associated Micro Lesions of Cerebellum and Brainstem in Multiple System Atrophy (Parkinsonian Type).
Cerebellum (London, England)Managing impulse control and related behavioral disorders in Parkinson's disease: where we are in 2025?
Expert review of neurotherapeuticsNeuropsychological Tests of Memory, Visuospatial, and Language Function in Parkinson's Disease: Review, Critique, and Recommendations.
Movement disorders : official journal of the Movement Disorder SocietyRenaming Twiddler's syndrome: an argument for change to reflect a diverse set of aetiologies, patients and devices.
BMJ case reportsUnveiling the enigmatic: Primary progressive apraxia of speech - A case report.
Clinical parkinsonism & related disordersPrevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.
Movement disorders clinical practiceConversion between NMSS and MDS-NMS in Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder SocietyAssociation of waist circumference with all cause mortality in Parkinson's disease.
Scientific reportsRecognition, management, and patient perspectives of impulsive-compulsive disorders in Parkinson's disease.
Journal of Parkinson's diseaseComprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk.
Parkinsonism & related disordersSympathetic and parasympathetic subtypes of body-first Lewy body disease observed in postmortem tissue from prediagnostic individuals.
Nature neuroscienceNeuroprotective role and mechanistic insights of DJ-1 dimerization in Parkinson's disease.
Cell communication and signaling : CCSHaploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Cell reportsSerotype and distribution of adhesion genes in Streptococcus mutans isolated from people with Parkinson's disease.
OdontologyPaired copy number variation analysis in siblings discordant for familial Parkinson's disease.
Annals of clinical biochemistryRethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.
Journal of Parkinson's diseaseRare SV2C coding variants in Parkinson's disease risk.
Journal of Parkinson's diseaseEstimation of and clinical consensus on the meaningful motor progression threshold on MDS-UPDRS Part III.
Journal of Parkinson's diseaseDoes drug repurposing bridge the gaps in management of Parkinson's disease? Unravelling the facts and fallacies.
Ageing research reviewsP2RX7, an adaptive immune response gene, is associated with Parkinson's disease risk and age at onset.
Journal of Parkinson's diseasePrevalence and correlates of the head turning sign in mild cognitive impairment and dementia due to neurodegenerative, chronic cerebrovascular, and mixed etiologies.
Journal of Alzheimer's disease : JADEarly-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.
NeurogeneticsPathomechanisms of neuropsychiatric disturbances in atypical parkinsonian disorders: a current view.
Journal of neural transmission (Vienna, Austria : 1996)[Parkinson's disease: from genetics to targeted therapies].
Comptes rendus biologiesSkin calcium deposits in primary familial brain calcification: A novel potential biomarker.
Annals of clinical and translational neurologyPLA2G6-associated Neurodegeneration: A Rare Case Report of Dystonia-Parkinsonism Phenotype with a Novel Genotypic Variant.
The Journal of the Association of Physicians of IndiaThe novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
European journal of neurologyNPT100-18A rescues mitochondrial oxidative stress and neuronal degeneration in human iPSC-based Parkinson's model.
BMC neuroscienceDistinct subcellular localization of tau and alpha-synuclein in lewy body disease.
Acta neuropathologica communicationsProgressive supranuclear palsy: an updated approach on diagnosis, treatment, risk factors and outlook in Mexico.
Gaceta medica de MexicoAssociation between triglyceride/high density lipoprotein ratio and incidence risk of Parkinson's disease: a population-based cohort study.
Scientific reportsOpicapone as adjunct to levodopa in treated Parkinson's disease without motor complications: A randomized clinical trial.
European journal of neurologyTDP-43 Cryptic RNAs in Perry Syndrome: Differences across Brain Regions and TDP-43 Proteinopathies.
Movement disorders : official journal of the Movement Disorder SocietyDevelopment and use of DJ-1 affinity microcolumns to screen and study small drug candidates for Parkinson's disease.
Analytica chimica actaPlasma pTau181 and amyloid markers predict conversion to dementia in idiopathic REM sleep behaviour disorder.
Brain : a journal of neurologyGinsenosides Rg1, Rb1 and rare ginsenosides: Promising candidate agents for Parkinson's disease and Alzheimer's disease and network pharmacology analysis.
Pharmacological researchA rare variant in the UQCRC1 gene, p.(Gly405Val) in three Austrian Parkinson's patients.
Parkinsonism & related disordersDiagnosis and treatment of autonomic failure, pain and sleep disturbances in Parkinson's disease: guideline "Parkinson's disease" of the German Society of Neurology.
Journal of neurologyParkinson disease-associated toxic exposures selectively up-regulate vesicular glutamate transporter vGlut2 in a model of human cortical neurons.
Molecular biology of the cellAlpha-synuclein RT-QuIC assay in gastroduodenal and skin biopsies of Parkinson disease patients.
Annals of clinical and translational neurologyMRI classification of progressive supranuclear palsy, Parkinson disease and controls using deep learning and machine learning algorithms for the identification of regions and tracts of interest as potential biomarkers.
Computers in biology and medicineShared and distinct changes in the molecular cargo of extracellular vesicles in different neurodegenerative diseases.
Cellular and molecular life sciences : CMLSEarly Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism.
Tremor and other hyperkinetic movements (New York, N.Y.)The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
Molecular neurodegenerationExome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Nature agingLewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids.
Brain : a journal of neurologySynaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation.
Brain : a journal of neurologyDistinct fingerprints of tRNA-derived small non-coding RNA in animal models of neurodegeneration.
Disease models & mechanismsEye movement disorders: A new approach to preliminary screening of Parkinson's disease.
NeuroscienceA strategic approach of the management of sleep-disordered breathing in multiple system atrophy.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineTremor Is Highly Responsive to Levodopa in Advanced Parkinson's Disease.
Movement disorders clinical practiceCACHE Challenge #1: Targeting the WDR Domain of LRRK2, A Parkinson's Disease Associated Protein.
Journal of chemical information and modelingReliable change indices for the Italian version of the Montreal Cognitive Assessment (MoCA) in non-demented Parkinson's disease patients.
BMC neurologyParkinson disease therapy: current strategies and future research priorities.
Nature reviews. NeurologyRecognition and characterising non-motor profile in early onset Parkinson's disease (EOPD).
Parkinsonism & related disordersFIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.
GenesTargeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants.
Scientific reportsRare but relevant: Methamphetamine and Parkinson's disease.
Addiction (Abingdon, England)The Black and African American Connections to Parkinson's Disease (BLAAC PD) study protocol.
BMC neurologyPerry Disease: Current Outlook and Advances in Drug Discovery Approach to Symptomatic Treatment.
International journal of molecular sciencesHigh-throughput screening for small-molecule stabilizers of misfolded glucocerebrosidase in Gaucher disease and Parkinson's disease.
Proceedings of the National Academy of Sciences of the United States of AmericaInterplay of α-Synuclein Oligomers and Endoplasmic Reticulum Stress in Parkinson'S Disease: Insights into Cellular Dysfunctions.
InflammationSustained effect of prasinezumab on Parkinson's disease motor progression in the open-label extension of the PASADENA trial.
Nature medicineA rare patient with Parkinson's disease presenting with isolated progressive micrographia.
NeurocasePathologically Confirmed Alzheimer's Disease Presenting as Clinical Parkinson's Disease, A Case Report.
Movement disorders clinical practiceGenetic Analysis of Neurite Outgrowth Inhibitor-Associated Genes in Parkinson's Disease: A Cross-Sectional Cohort Study.
CNS neuroscience & therapeuticsEfficacy and safety of riluzole for treating motor function in rare dyskinesia syndromes: a systematic review with meta-analysis.
The Journal of international medical researchAssociation Between Body Mass Index Changes and All-Cause Mortality in Parkinson's Disease.
Journal of Parkinson's diseaseCombining Biomarkers with Genetics In Prodromal/Earliest Phase Parkinson's Disease.
Journal of Parkinson's diseaseA case of corticobasal syndrome possibly associated with anti-Yo antibodies.
Current medical research and opinionGenetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
Nature communicationsCerebellar transcranial magnetic stimulation improves motor function in Parkinson's disease.
Annals of clinical and translational neurologyProgressive gray matter atrophy in parkinsonian variant of multiple system atrophy assessed by using causal structural covariance network.
NeuroradiologyFungal Coculture of Herpotrichia sp. and Trametes versicolor Induces Production of Diverse Metabolites with Anti-Parkinson's Neuroprotective Activity.
Journal of natural productsExercise Habits in People with Parkinson's: A Multinational Survey.
Movement disorders clinical practiceAkinetic crisis and withdrawal syndromes: guideline "Parkinson's disease" of the German Society of Neurology.
Journal of neurologyA General Neurologist's Practical Diagnostic Algorithm for Atypical Parkinsonian Disorders: A Consensus Statement.
Neurology. Clinical practiceThe akinetic crisis in Parkinson´s disease- the upper end of a spectrum of subacute akinetic states.
Journal of neural transmission (Vienna, Austria : 1996)Determinants of care partner burden in atypical Parkinsonian syndromes: A retrospective, multi-center analysis.
Clinical parkinsonism & related disordersAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Hypothalamic atrophy in progressive supranuclear palsy, assessed by convolutional neural network-based automatic segmentation.
- Association of Bassoon (BSN) Gene Mutations With Gait and Motor Impairments in Parkinson's Disease.
- Self-reporting quality of life in mild-to-moderate Alzheimer's disease and Lewy body dementia: Comparing capability and health-focused measures using response process validation.
- CHCHD2 links mitochondrial dysfunction and α-synuclein misfolding in Parkinson's disease.
- Spontaneous tauopathy with parkinsonism in an aged cynomolgus macaque.
- The Effects of Digital Health Interventions on Motor Symptoms, Nonmotor Symptoms, and Quality of Life in Patients With Parkinson Disease: Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:306666(Orphanet)
- MONDO:0017635(MONDO)
- Busca completa no PubMed(PubMed)
- Q55787239(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
