Raras
Buscar doenças, sintomas, genes...
Paresia supranuclear progressiva
ORPHA:683CID-10 · G23.1CID-11 · 8A00.10PCDT · SUSDOENÇA RARA

Doença neurodegenerativa rara de início tardio caracterizada por paralisia do olhar supranuclear, instabilidade postural, rigidez progressiva e demência leve.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença neurodegenerativa rara de início tardio caracterizada por paralisia do olhar supranuclear, instabilidade postural, rigidez progressiva e demência leve.

Pesquisas ativas
34 ensaios
165 total registrados no ClinicalTrials.gov
Publicações científicas
5.855 artigos
Último publicado: 2026 Apr 15

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
5.26
Worldwide
Início
Adult
+ elderly
🏥
SUS: Cobertura parcialScore: 45%
PCDT disponívelCID-10: G23.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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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

Partes do corpo afetadas

🧠
Neurológico
21 sintomas
💪
Músculos
9 sintomas
👁️
Olhos
7 sintomas
🦴
Ossos e articulações
3 sintomas
👂
Ouvidos
3 sintomas
😀
Face
2 sintomas

+ 64 sintomas em outras categorias

Características mais comuns

90%prev.
Quedas
Muito frequente (99-80%)
90%prev.
Paralisia do olhar supranuclear
Muito frequente (99-80%)
90%prev.
Disfagia
Muito frequente (99-80%)
90%prev.
Oftalmoplegia supranuclear
Muito frequente (99-80%)
90%prev.
Transmissão sináptica anormal
Muito frequente (99-80%)
90%prev.
Perda neuronal no sistema nervoso central
Muito frequente (99-80%)
112sintomas
Muito frequente (9)
Frequente (19)
Ocasional (4)
Sem dados (80)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 112 características clínicas mais associadas, ordenadas por frequência.

QuedasFalls
Muito frequente (99-80%)90%
Paralisia do olhar supranuclearSupranuclear gaze palsy
Muito frequente (99-80%)90%
DisfagiaDysphagia
Muito frequente (99-80%)90%
Oftalmoplegia supranuclearSupranuclear ophthalmoplegia
Muito frequente (99-80%)90%
Transmissão sináptica anormalAbnormal synaptic transmission
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico5.855PubMed
Últimos 10 anos200publicações
Pico2026105 papers
Linha do tempo
2026Hoje · 2026🧪 1995Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

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: Not applicable.

MAPTMicrotubule-associated protein tauDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity (PubMed:21985311). The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both (PubMed:21985311, PubMed:32961270). Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isofo

LOCALIZAÇÃO

Cytoplasm, cytosolCell membraneCytoplasm, cytoskeletonCell projection, axonCell projection, dendriteSecreted

VIAS BIOLÓGICAS (1)
Caspase-mediated cleavage of cytoskeletal proteins
EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
223.0 TPM
Cérebro - Hemisfério cerebelar
218.9 TPM
Córtex cerebral
161.2 TPM
Brain Frontal Cortex BA9
156.7 TPM
Brain Anterior cingulate cortex BA24
104.1 TPM
OUTRAS DOENÇAS (10)
Pick diseaseprogressive supranuclear palsy-parkinsonism syndromesemantic dementiasupranuclear palsy, progressive, 1
HGNC:6893UniProt:P10636

Variantes genéticas (ClinVar)

152 variantes patogênicas registradas no ClinVar.

🧬 MAPT: NM_001377265.1(MAPT):c.1998+31G>A ()
🧬 MAPT: NM_001377265.1(MAPT):c.1216C>T (p.Pro406Ser) ()
🧬 MAPT: NM_001377265.1(MAPT):c.*3050G>A ()
🧬 MAPT: NM_001377265.1(MAPT):c.220+2402G>C ()
🧬 MAPT: NM_001377265.1(MAPT):c.-17-3C>T ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 17 variantes classificadas pelo ClinVar.

6
7
4
Patogênica (35.3%)
VUS (41.2%)
Benigna (23.5%)
VARIANTES MAIS SIGNIFICATIVAS
MAPT: NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del) [Pathogenic]
MAPT: NM_001377265.1(MAPT):c.2091+16C>T [Pathogenic]
MAPT: NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) [Conflicting classifications of pathogenicity]
MAPT: NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) [Pathogenic]
MAPT: NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) [Pathogenic]

Vias biológicas (Reactome)

3 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
1Fase 11
·Pré-clínico19
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Paresia supranuclear progressiva

🗺️

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

🟢 Recrutando agora

18 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

165 ensaios clínicos encontrados, 34 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
3.063 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 3.063

#1

Pan-neurodegeneration proteomics reveals disease subtypes and molecular signatures.

Cell2026 Mar 23

Neurodegenerative diseases (NDs) pose clinical challenges due to their complexity and molecular heterogeneity. Here, we present a pan-neurodegeneration atlas (PanNDA) from multilayer, deep proteomic analysis of 2,279 human brain samples spanning 6 major NDs: Alzheimer's disease (AD), Lewy body dementia (LBD), frontotemporal lobar degeneration with TDP-43 pathology, progressive supranuclear palsy with tau pathology, vascular dementia, and Parkinson's disease. PanNDA integrates data from whole proteome, detergent-insoluble proteome, and posttranslational modifications (phosphorylation and ubiquitination), enabling intra- and inter-disease comparisons. Intra-disease analyses uncover distinct molecular subtypes (e.g., three in AD and four in LBD), reveal dysregulated pathways, and prioritize top-ranked proteins. Inter-disease comparisons identify shared alterations in NDs, such as GPNMB in microglial and lysosomal activation and NPTX2 in synaptic regulation, alongside disease-specific changes and hub regulators within protein networks. Overall, PanNDA provides a systems-level framework for understanding ND mechanisms and serves as a foundational resource that is accessible via an interactive website: https://penglab.shinyapps.io/pannda.

#2

Fronto-medial theta instability error signal correlates with postural sway in Parkinson's disease and progressive supranuclear palsy.

Journal of the neurological sciences2026 Mar 14

Postural instability is a common feature in progressive supranuclear palsy (PSP) and idiopathic Parkinson's disease (PD). Understanding the neural mechanisms behind the loss of postural stability may aid identification of patients at an increased risk of falls. To examine differences in postural sway between PSP and PD cohorts during dual-task assessment with electroencephalography (EEG) recording to identify neural mechanisms associated with postural control in Parkinsonism patients. We assessed static postural stability in healthy controls (HC; n = 15), people with PD (n = 18), and people with PSP (n = 9), during the following conditions: Eyes open, eyes closed and during cognitive tasks. EEG data were simultaneously recorded using a 24-channel electrode array. The groups were matched for age, sex and disease duration. The PSP cohort demonstrated greater executive dysfunction during cognitive task (p ≤ 0.01). PD and PSP groups exhibited greater instability during different postural task conditions compared to the control group; however, no significant differences were found between PD and PSP groups. The PSP group exhibited a significant reduction in fronto-medial theta power compared to the PD group (p < 0.03). A negative correlation was observed between fronto-medial theta and measures of postural sway for Parkinsonism cohorts (p < 0.05 for all). Increased fronto-medial theta activity, which has been shown to reflect anterior cingulate cortex generated 'error signals' when stability is challenged, is associated with postural stability in PD and PSP. The differences in this 'error signal' in PD and PSP possibly reflect differing abilities to compensate for challenges in stability.

#3

[A case of progressive supranuclear palsy with progressive non-fluent agrammatic variant primary progressive aphasia who could sing fluently].

Rinsho shinkeigaku = Clinical neurology2026 Mar 14

The patient was a 65-year-old man. He visited the hospital complaining of gait disturbances and difficulty speaking. He was diagnosed with progressive supranuclear palsy because of slow vertical eye movements, frequent falls, and freezing gait; these symptoms were levodopa-resistant. The patient also had aphasia similar to non-fluent agrammatic variant of primary progressive aphasia, stuttering, and palilalia. However, he was able to sing a familiar song fluently. In contrast, for an unfamiliar song, he could not begin singing without the lyrics, and was more accurate at reading aloud than singing. Nonfluent aphasia with preserved singing ability has been reported in patients with stroke and trauma. However, this has rarely been reported for neurodegenerative diseases. This phenomenon may be due to the functional preservation of the right hemisphere and the left temporal lobe. The familiar song may have been stored in long-term memory as a set of lyrics and melody, and he may have produced it as automatic language.

#4

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.

Annals of neurology2026 Mar 14

Pre-mortem diagnosis of parkinsonism is often challenging due to atypical presentations, overlapping syndromes, and co-pathologies. This study aimed to develop a machine learning-based algorithm predicting neuropathology in parkinsonism using chronological clinical presentations, which has previously been underexplored. Clinical information was automatically abstracted from medical records of the Mayo Clinic Brain Bank using fine-tuned Generative Pre-trained Transformer 4 models. Patients who developed parkinsonism within 3 years of disease onset were included. Six machine learning models were trained with age, sex, family history, and 197 clinical presentations paired with onset information to predict neuropathologic diagnoses, including co-pathologies. Among 7,825 donors, 949 met inclusion criteria, representing 9 neuropathologic categories: Lewy body disease (LBD; n = 128), LBD with Alzheimer's disease (AD; n = 136), progressive supranuclear palsy (PSP; n = 303), PSP with AD (n = 56), PSP with LBD (n = 27), multiple system atrophy (MSA; n = 120), corticobasal degeneration (CBD; n = 99), AD (n = 43), and frontotemporal lobar degeneration (FTLD; n = 37). The CatBoost algorithm achieved an area under the receiver operating characteristic curve of 0.83 across the 9 diagnostic categories at 3 years after onset. Important predictors included age at onset, restricted eye movement, and tremor. The model remained robust to incomplete data, requiring only 23 of 200 parameters for reliable predictions with an area under the curve of 0.80. The algorithm was implemented into a user-friendly program providing diagnostic probabilities with visualizations of parameter contributions. This neuropathology-confirmed diagnostic algorithm provides a cost-effective and interpretable screening tool for parkinsonism, bridging biomarker testing and molecular-targeted therapies. ANN NEUROL 2026.

#5

Early clinical characteristics of pathologically confirmed progressive supranuclear palsy and corticobasal degeneration.

Journal of neurology2026 Mar 11

Although the clinical features of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are well documented, their early clinical presentations from the perspective of initial clinical consultation remain less well understood. This study aimed to characterize the early clinical features of PSP and CBD to inform clinicians on diagnostic assessment and management strategies. Data were obtained from the National Alzheimer's Coordinating Center (NACC) database (2005-March 2025 data freeze). Neuropathologically confirmed cases of PSP (n = 278) and CBD (n = 149) were included. Analyses were restricted to first clinical visits, focusing on demographic, neuropsychiatric, neurological, and neuropsychological variables. Memory symptoms were reported in more than half of both groups, whereas language impairment was more common in CBD (> 70%) and associated with higher odds of CBD diagnosis. Depression was frequent (~ 50%), with PSP showing higher odds for depressive symptoms but lower odds for disinhibition. Although 20-30% of both PSP and CBD patients exhibited no parkinsonian signs at presentation, gait disturbance, falls, and slowness were common and strongly associated with PSP. Approximately half of both groups presented with cognitive-predominant onset, and nearly one-fifth were initially misdiagnosed as Alzheimer's disease. A substantial proportion of PSP and CBD patients lack parkinsonian signs at first presentation, and cognitive-onset presentations are frequent, leading to early diagnostic uncertainty. Clinicians should recognize these overlapping features when evaluating early atypical parkinsonian or cognitive syndromes.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC2.732 artigos no totalmostrando 196

2026

Pan-neurodegeneration proteomics reveals disease subtypes and molecular signatures.

Cell
2026

Lower body parkinsonism: rethinking MRI planimetry.

Parkinsonism &amp; related disorders
2026

Fronto-medial theta instability error signal correlates with postural sway in Parkinson's disease and progressive supranuclear palsy.

Journal of the neurological sciences
2026

Natural Killer Subset Changes and Vascular Endothelial Growth Factor-A Plasma Profile in Progressive Supranuclear Palsy: The NKscape Study.

Movement disorders : official journal of the Movement Disorder Society
2026

[Basal ganglia and movement disorders : Part 1: the parkinsonian spectrum-Neuroradiological patterns and diagnostic considerations].

Radiologie (Heidelberg, Germany)
2026

Unveiling discrepancies in depression detection among persons with dementia: A comparative analysis of caregiver and self-report.

Journal of Alzheimer's disease : JAD
2026

Bilateral reverse shoulder arthroplasty in a patient with progressive supranuclear palsy: a case report.

International journal of surgery case reports
2026

[A case of progressive supranuclear palsy with progressive non-fluent agrammatic variant primary progressive aphasia who could sing fluently].

Rinsho shinkeigaku = Clinical neurology
2026

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.

Annals of neurology
2026

Early clinical characteristics of pathologically confirmed progressive supranuclear palsy and corticobasal degeneration.

Journal of neurology
2026

Hypothalamic atrophy in progressive supranuclear palsy, assessed by convolutional neural network-based automatic segmentation.

Journal of neurology
2026

GV1001 reduces pathological 4R tau and functional deficits in models relevant to progressive supranuclear palsy.

Scientific reports
2026

Plasma tau-species positive neuron-derived extracellular vesicles in progressive supranuclear palsy.

Brain : a journal of neurology
2026

Longitudinal Videofluorographic Dysphagia Measures in Progressive Supranuclear Palsy.

Movement disorders clinical practice
2026

Transcriptomic signature of frontotemporal lobar degeneration with TDP-43 type C pathology.

Brain : a journal of neurology
2026

Safety, tolerability and biomarker results of bepranemab in participants with progressive supranuclear palsy: a randomised, multicentre, double-blind, placebo-controlled, phase 1b trial.

BMJ neurology open
2026

REM sleep behavior disorder as a shared motor phenotype: A multidimensional clinical study.

Sleep medicine
2026

Frontotemporal lobar degeneration-TDP mimicking progressive supranuclear palsy: A perspective on clinicopathology, genetics, and biomarkers.

Neural regeneration research
2026

Improving access to care through transportation and internet use for patients with atypical parkinsonism: A pilot study.

Clinical parkinsonism &amp; related disorders
2026

Short tandem repeat expansions in patients with neurodegenerative dementia.

EBioMedicine
2026

[MRI in neurodegenerative Parkinsonian syndromes].

Radiologie (Heidelberg, Germany)
2026

Revisiting Minamata disease through computational phenotypic similarity analysis.

PloS one
2026

Longitudinal Evaluation of Polyneuropathy in Atypical Parkinsonian Syndromes.

Neurology international
2026

Functional MRI in Multiple System Atrophy: A Promising Biomarker for Clinical Applications.

Neuropsychiatric disease and treatment
2026

Longitudinal monitoring of tau aggregation in progressive supranuclear palsy with [18F]PI-2620 PET.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Association between the prevalence of neurological diseases and the density of board-certified neurologists: ecological cross-sectional analysis.

BMC neurology
2026

Incidence and Survival Rates of Frontotemporal Lobar Degeneration: Population-Based Registry Study.

Neurology
2026

Novel Variants in DCTN1 Associated with Perry Disease: A Case Series from a Chinese Parkinsonism Cohort.

Movement disorders : official journal of the Movement Disorder Society
2026

Accuracy of clinical diagnosis in neurodegenerative diseases - a study of 455 autopsy cases.

Journal of neurology
2026

A data-driven SSM/PCA analysis approach for differential diagnosis of parkinsonism using 11C-PE2I PET.

NeuroImage. Clinical
2026

Nanoscopic tau aggregates are not shared intermediates but disease-specific entities across tauopathies.

Cell reports
2026

Juggling Under Controlled Hypoxia as a Multimodal Coordinative and Cognitive Training in Parkinson's Disease-A Narrative Review.

Journal of functional morphology and kinesiology
2026

Artificial microRNAs targeting tau enable post-symptomatic functional recovery in aged tauopathy mice.

Molecular therapy. Nucleic acids
2026

Progressive Supranuclear Palsy PERK haplotype B selectively translates DLX1 promoting tau toxicity.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2026

Clinical implications of progressive ventilatory impairment in multiple system atrophy and progressive supranuclear palsy.

Journal of the neurological sciences
2026

Executive anosognosia in progressive supranuclear palsy versus Parkinson's disease.

Frontiers in neurology
2026

Vulnerability of anterior cingulate Von Economo neurons to FTLD-tauopathies in behavioral variant frontotemporal dementia.

Cerebral cortex (New York, N.Y. : 1991)
2026

Dementia with Lewy bodies and additional progressive supranuclear palsy presenting with early postural instability and frequent falls: an autopsy case.

BMC neurology
2026

Spontaneous tauopathy with parkinsonism in an aged cynomolgus macaque.

Frontiers in aging neuroscience
2026

Suicide attempt by a patient with an early phase of progressive supranuclear palsy: a case report.

BMC neurology
2026

Phosphorylated alpha-synuclein skin biopsy alters diagnosis in two out of three patients: Initial findings in a tertiary center.

Parkinsonism &amp; related disorders
2026

Classification of tauopathies from human brain homogenates through salt-modulated tau amplification.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Reduced synaptic density in patients with progressive supranuclear palsy: An 18F-SynVest-1 PET study.

Parkinsonism &amp; related disorders
2026

Cholinergic substrates of gait and postural impairments in Progressive Supranuclear Palsy.

Research square
2026

Multi-model Diffusion MRI Signatures in Atypical Parkinsonian Disorders.

medRxiv : the preprint server for health sciences
2026

Patient-reported Vision Quality-of-life in Parkinsonian Syndromes and Ataxias and Association with Clinical Oculomotor Findings.

medRxiv : the preprint server for health sciences
2026

Real-world evaluation of Armstrong's criteria in corticobasal degeneration: Phenotypic overlap and diagnostic challenges.

Parkinsonism &amp; related disorders
2026

Balancing Accuracy and Precision: Optimal b-values for Diffusion Tensor Imaging Along the Perivascular Space.

AJNR. American journal of neuroradiology
2026

Current Neuroimaging Modalities to Distinguish Parkinson's Disease from its Mimics: Imaging Features and Implications for Clinical Practice.

The neuroradiology journal
2026

Dyrk1a inhibition with the Novel Compound DYR533: A Cross-Disease Therapeutic Strategy Targeting Amyloidosis, Tau Pathogenesis, and Neuroinflammation.

bioRxiv : the preprint server for biology
2026

Automated differentiation of parkinsonian disorders: an ROI-based analysis of subcortical shape and cortical surface features.

Cognitive neurodynamics
2026

Molecular features of human pathological tau distinguish tauopathy-associated dementias.

Cell
2026

Percutaneous endoscopic gastrostomy in atypical parkinsonian syndromes: survival and aspiration outcomes from a retrospective international cohort.

The New Zealand medical journal
2026

Fluid Biomarkers of Disease Burden and Cognitive Dysfunction in Progressive Supranuclear Palsy.

Annals of clinical and translational neurology
2026

Oculogyric crisis induced by high-dose apomorphine in a patient with advanced Parkinson's disease.

Parkinsonism &amp; related disorders
2026

Retinal Thickness Profiles in Parkinsonian Syndromes: Discerning Parkinson's Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy via Optical Coherence Tomography.

Biomedicines
2026

Neuroimaging and Pathology Biomarkers in Parkinson's Disease and Parkinsonism.

Brain sciences
2026

Potential role of MRI to optimize clinical trial design for progressive supranuclear palsy and corticobasal degeneration.

The journal of prevention of Alzheimer's disease
2026

Subtracting First Principal Component May Improve 4R Tau Detectability on [18F]Flortaucipir Tau PET.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine
2026

Dysphagia and Dysarthria in Neurodegenerative Diseases: A Multisystem Network Approach to Assessment and Management.

Audiology research
2026

Localized Iron Deposition and Shape Changes of Cerebellar Dentate in Progressive Supranuclear Palsy Clinical Variants.

Movement disorders : official journal of the Movement Disorder Society
2026

Dementia in Progressive Supranuclear Palsy: A Narrative Review.

Neurology and therapy
2026

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy.

Annals of clinical and translational neurology
2026

Hydrocephalus should not be a mandatory exclusion criterion in PSP: Emerging pathologic and clinical evidence urges reconsideration.

Parkinsonism &amp; related disorders
2026

Rapidly progressive dysphagia and vertical supranuclear gaze palsy: a key diagnostic clue for progressive supranuclear palsy in Levodopa-Resistant parkinsonism.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Moving beyond the hospital: in-depth characterization of daily-life mobility in patients with atypical Parkinsonian disorders.

NPJ Parkinson's disease
2026

Revealing the conformational landscape of tau P → L mutants in R23 tau macromolecule: A pathway to targeted therapeutic design.

International journal of biological macromolecules
2026

Voice and Speech in Atypical Parkinsonian Disorders.

Movement disorders clinical practice
2026

First Korean Case of C9orf72-Related Amyotrophic Lateral Sclerosis With Progressive Supranuclear Palsy-Like Features.

Journal of clinical neurology (Seoul, Korea)
2025

CORTICOBASAL SYNDROME PRESENTING AS A PROGRESSIVE HEMIPARETIC SYNDROME: A CASE REPORT.

Georgian medical news
2025

Association between Physical Function at Discharge and Fall Frequency One Month after Discharge in Patients with Progressive Supranuclear Palsy.

Physical therapy research
2026

Catestatin ameliorates tauopathy and amyloidogenesis via adrenergic inhibition.

bioRxiv : the preprint server for biology
2026

Treatment of Disturbed Sleep in Progressive Supranuclear Palsy: a randomized, remote, double-blinded, 6-week cross-over design study protocol comparing zolpidem, suvorexant, and placebo.

Trials
2026

Wernicke's encephalopathy unmasking progressive supranuclear palsy and Alzheimer's pathology: a diagnostic challenge in an older adult.

BMJ case reports
2026

The spectrum of movement disorders in neurosyphilis: A systematic review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Refining a mouse model of progressive supranuclear palsy through inoculation of human post-mortem brain-derived tau.

BMC research notes
2026

PET evaluation of cholinergic system differences in progressive supranuclear palsy and age-matched controls using [18F]VAT.

Nuclear medicine and biology
2025

4R-tau seeding activity reveals molecular subtypes in progressive supranuclear palsy.

Nature communications
2026

18 F-FDG, 18 F-FP-CIT, and 18 F-Florzolotau PET Imaging in Progressive Supranuclear Palsy : Region-Specific Correlations Between Glucose Metabolism, Dopaminergic Function, and Tau Pathology.

Clinical nuclear medicine
2026

The Utility of Olfactory Testing to Discriminate Parkinson's Disease From Diagnostic Mimics: A Systematic Review and Meta-Analysis.

European journal of neurology
2025

Praja1 E3 ubiquitin ligase and the role it plays in neurodegeneration.

The FEBS journal
2025

Inflammatory and Neurotrophic Factors and Their Connection to Quality of Life in Progressive Supranuclear Palsy-Single-Center Study.

International journal of molecular sciences
2025

Unlocking the Sugar Code: Implications and Consequences of Glycosylation in Alzheimer's Disease and Other Tauopathies.

Biomedicines
2025

Distinct plasma inflammatory signatures reflect disease severity and progression in progressive supranuclear palsy: a prospective cohort study.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Between Habit and Mannerism: Idiosyncratic Motor Behavior.

Movement disorders clinical practice
2025

Paraneoplastic progressive Supranuclear palsy: a case report and literature review.

Oxford medical case reports
2026

White matter hyperintensities in the deep cerebral venous territory differ between subcortical and cortical 4-repeat tauopathies.

Parkinsonism &amp; related disorders
2025

Plasma NFL, GFAP, sTREM2, pTau231, and clinical severity in progressive supranuclear palsy.

Journal of neurology
2025

The Paper-Toss Test: enhancing bedside recognition of corticobasal syndrome.

Frontiers in neurology
2025

Progressive Supranuclear Palsy With Post-traumatic Frontal Lobe Damage Mimicking Anti-IgLON5 Antibody Disease.

Cureus
2026

Deep Learning-Based Brainstem Segmentation and Multi-Class Classification for Parkinsonian Syndrome.

Journal of magnetic resonance imaging : JMRI
2025

Increased 18F-AV1451 Retention in Soft Tissue of Patients With Progressive Supranuclear Palsy.

Clinical nuclear medicine
2025

Brain atrophy and cholinergic denervation in progressive supranuclear palsy: an MRI and [18F]-FEOBV PET study.

Frontiers in neuroscience
2025

Inflammation PET and plasma neurofilament light predict survival in people with progressive supranuclear palsy.

Brain communications
2025

Clinical Framework for Motor Rehabilitation in Parkinsonism: Integrating Individualized and Syndrome-Specific Approaches.

Brain &amp; NeuroRehabilitation
2025

Diagnostic utility of biomarkers in progressive supranuclear palsy: toward a biotyping framework.

Journal of neurology
2025

Patient with Progressive Supranuclear Palsy Initially Diagnosed as Anxiety and Depression.

Revista Colombiana de psiquiatria
2025

Progressive supranuclear palsy and corticobasal syndrome: cross-sectional study of palliative care needs.

BMJ supportive &amp; palliative care
2026

Plasma pTau217 and Neurofilament Light Chain as Differentiative Markers for Progressive Supranuclear Palsy From Parkinson Disease.

Neurology
2025

Quantification of Neuromelanin as a Neuroimaging Biomarker for Parkinson's Disease.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2026

Comparative [18F]Florzolotau and [18F]FDG PET Imaging Patterns in Anti-IgLON5 Disease and Progressive Supranuclear Palsy.

Clinical nuclear medicine
2025

NDPACX: a newly defined X-linked Parkinsonian syndrome associated with SLC9A6 hemizygote mutation.

Brain communications
2026

Progressive Supranuclear Palsy or Something More? Unveiling Late-Onset Wilson's Disease.

Annals of Indian Academy of Neurology
2025

Updates of nuclear medicine imaging in neurodegenerative disorders.

Journal of the Formosan Medical Association = Taiwan yi zhi
2025

Neurofilament light chain as a diagnostic and prognostic biomarker in atypical parkinsonisms: current evidence, new data, challenges, and future directions.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Richardson Syndrome Variant of Progressive Supranuclear Palsy: A Case Report.

Cureus
2025

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review.

Movement disorders clinical practice
2025

Single-cell Spatial Transcriptional Profiling Uncovers Heterogeneous Cellular Responses to Pathogenic Tau in a Mouse Model of Neurodegeneration.

bioRxiv : the preprint server for biology
2025

Cerebrospinal fluid biomarkers for diagnosis of Parkinson's disease: a systematic review and network meta-analysis.

Journal of neurology
2025

Beyond Parkinson's Disease: A Narrative Review of Neuromelanin MRI in Neurodegenerative Diseases.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2025

Methodological considerations for MRI biomarkers in progressive supranuclear palsy.

Journal of the neurological sciences
2026

ERBB4 colocalizes with phosphorylated tau aggregates in multiple tauopathies.

Neurochemistry international
2025

Patterns of Longitudinal Regional Brain Atrophy in Patients With Different Progressive Supranuclear Palsy Clinical Variants.

Neurology
2025

The Role of MRI in Capturing Phenotypic Variability in Progressive Supranuclear Palsy: Lessons for Future Clinical Trials.

Neurology
2025

Acoustic Vowel Metrics as Correlates of Dysphagia and Dysarthria in Brainstem Neurodegenerative Diseases.

Audiology research
2025

Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementia.

medRxiv : the preprint server for health sciences
2025

Remote Cortical Network for Frontal Cognitive Symptoms Derived from Tau Accumulation in Progressive Supranuclear Palsy.

bioRxiv : the preprint server for biology
2026

Interpeduncular Angle: A Possible Marker to Differentiate Atypical Parkinsonism from Idiopathic Parkinson's Disease.

Annals of Indian Academy of Neurology
2025

Duloxetine for PSP-Related Speech Disorders.

Movement disorders clinical practice
2024

FTLD-MAPT mutations and short 5'UTR Tau mRNAs increase Tau translation.

NAR molecular medicine
2025

Dynamic multi-scale deep learning with mixture of experts for differentiating iNPH and PSP using MRI.

International journal of computer assisted radiology and surgery
2026

Utility of Progression Rate Since Symptom Onset in Predicting Subsequent Survival in Progressive Supranuclear Palsy.

Movement disorders : official journal of the Movement Disorder Society
2026

Backward walking as a mobility assessment and exercise intervention for persons with neurologic disorders: A scoping review.

Gait &amp; posture
2025

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

Brain : a journal of neurology
2026

Safety, Tolerability, Pharmacokinetics, and Brain Target Occupancy of the OGA Inhibitor ASN90 in Healthy Participants.

Movement disorders : official journal of the Movement Disorder Society
2025

Association between visual hallucinations and α-synuclein oligomers in patients with dementia with Lewy bodies.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2025

Multiple System Atrophy Without Dysautonomia: An Autopsy-Confirmed Study.

Neurology
2025

TDP-43-proteinopathy at the crossroads of tauopathy: on copathology and current and prospective biomarkers.

Frontiers in cellular neuroscience
2025

Potential Role of Transferrin and Vascular Cell Adhesion Molecule 1 in Differential Diagnosis Among Patients with Tauopathic Atypical Parkinsonian Syndromes.

Diagnostics (Basel, Switzerland)
2025

Automated MRI-Based Classification of Parkinsonism: A Deep Learning Approach to Distinguish PD From PSP.

CNS neuroscience &amp; therapeutics
2025

Deep transcranial magnetic stimulation in progressive supranuclear palsy: a randomized double-blind, cross-over study.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Levodopa exposure and nigral neuroinflammation in parkinsonian disorders: A postmortem study of 63 cases.

Scientific reports
2025

Refining the diagnostic accuracy of Parkinsonian disorders using metaphenomic annotation of the clinicopathological literature.

NPJ Parkinson's disease
2025

Progressive supranuclear palsy-like parkinsonism ensuing from anti-N-methyl-Daspartate receptor encephalitis.

Hong Kong medical journal = Xianggang yi xue za zhi
2026

Proximity Labeling of the Tau Repeat Domain Enriches RNA-Binding Proteins That Are Altered in Alzheimer's Disease and Related Tauopathies.

Molecular &amp; cellular proteomics : MCP
2025

Data-Driven differentiation of idiopathic Normal-Pressure hydrocephalus and progressive supranuclear palsy via automated volumetric analysis.

Neuroradiology
2025

The discriminative linguistic profiles of progressive supranuclear palsy and Parkinson's disease.

Neurologia
2025

Peripheral immunity patterns, imaging features, and clinical outcomes in patients with gait impairment and ventriculomegaly on brain MRI.

Frontiers in aging neuroscience
2025

Intracellular trafficking SNARE protein, syntaxin-6, modifies prion cellular phenotypes and risk of disease development in vivo.

Acta neuropathologica
2026

Utility of Locus Coeruleus Signal Intensity on High-resolution T1-weighted MR Imaging with Magnetization Transfer for Differentiating Parkinson's Disease from Atypical Parkinsonism.

Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine
2025

Leveraging Proteomics to Explore the Molecular Mechanisms of Primary Tauopathies.

Journal of neurochemistry
2026

Hybrid Tau-PET/MRI study: Quantitative susceptibility mapping in progressive supranuclear palsy and its correlation with Tau-PET.

European journal of nuclear medicine and molecular imaging
2025

The underlying causes of eye movement disorders and ataxia.

Neurodegenerative disease management
2026

Spatial Metabolic Covariance Networks in Progressive Supranuclear Palsy: Implications for Symptomatology and Their Neural Basis.

Movement disorders : official journal of the Movement Disorder Society
2025

Deceleration Capacity as a Marker of Autonomic Cardiac Modulation in Prodromal and Manifest Parkinson's Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy.

European journal of neurology
2026

Barcelona Progressive Supranuclear Palsy (PSP) Registry: Clinical, Oculomotor, and Cerebrospinal Fluid Markers; from Suggestive to Definite Cases.

Movement disorders : official journal of the Movement Disorder Society
2025

Neuronal-specific antibody in patients with multiple system atrophy and progressive supranuclear palsy.

Journal of the Formosan Medical Association = Taiwan yi zhi
2026

A Mathematical Model of Cellular Aggregation Predicts Patterns of Tau Accumulation in Neurodegenerative Disease.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Reviewer Comment on Kazemi et al. "Assessment of Clinical and Demographic Factors Influencing the Severity of Levodopa-Induced Dyskinesia".

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2025

Toward Biology-Driven Diagnosis of Atypical Parkinsonian Disorders.

NeuroSci
2025

Absence of STN Neuronal Activity during MER in DBS Surgery: Diagnostic and Clinical Implications.

Stereotactic and functional neurosurgery
2025

LRRK2 kinase-mediated accumulation of lysosome-associated phospho-Rabs in tauopathies and synucleinopathies.

Acta neuropathologica
2026

Comparing and combining TSPO-PET tracers in tauopathies.

European journal of nuclear medicine and molecular imaging
2025

Progressive supranuclear palsy against everyone else: a look into the specificity of MRI markers.

Journal of the neurological sciences
2025

Investigating the impact of white matter hyperintensities on longitudinal progression in progressive supranuclear palsy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Early subtypes and progressions of progressive supranuclear palsy: a data-driven brain bank study.

Journal of neurology
2025

A Short Version of Carers' Quality of Life Questionnaire for Parkinsonism: Data from Progressive Supranuclear Palsy Network.

Movement disorders clinical practice
2025

Protein fingerprints of brain-derived extracellular vesicles predict types of tau pathology.

Alzheimer's research &amp; therapy
2025

Brain linear measurement index in the differential diagnosis between idiopathic normal pressure hydrocephalus and progressive supranuclear palsy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Immune system modifications in atypical parkinsonism related to autoimmunity - a case control study.

Neurodegenerative disease management
2025

No anti-IgLON5 antibody in carefully diagnosed PSP patients with "atypical" or variant clinical features.

Parkinsonism &amp; related disorders
2025

Polyneuropathy in Parkinson's disease and atypical Parkinsonian syndromes: clinical impact and risk factors.

Journal of neural transmission (Vienna, Austria : 1996)
2025

A Case of Progressive Supranuclear Palsy with Predominant Speech/Language Disorder.

Internal medicine (Tokyo, Japan)
2025

Anti-tau VHH therapy against PHF6: a safe approach to slowing the phenotype of tau pathology.

Alzheimer's research &amp; therapy
2025

A novel lncRNA FAM151B-DT regulates degradation of aggregation prone proteins.

Molecular psychiatry
2025

Cross-sectional and longitudinal validation of short and long versions of the progressive supranuclear palsy quality of life scale.

Journal of neural transmission (Vienna, Austria : 1996)
2026

A Biomarker-Based Classification of Corticobasal Syndrome.

Movement disorders : official journal of the Movement Disorder Society
2025

[Classification and Clinical Characteristics of Dementia].

No shinkei geka. Neurological surgery
2026

Visual interpretation of [18F]Florzolotau Tau-PET imaging for differentiating alzheimer's disease and progressive supranuclear palsy.

European journal of nuclear medicine and molecular imaging
2025

A Bayesian analysis of diagnostic timelines across Alzheimer's disease, frontotemporal dementia, and other neurodegenerative conditions.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2025

Understanding Tau pathology: Insights from animal models.

Zoological research
2025

AZP2006 in Progressive Supranuclear Palsy: Outcomes from a Phase 2a Multicenter, Randomized Trial, and Open-Label Extension on Safety, Biomarkers, and Disease Progression.

Movement disorders : official journal of the Movement Disorder Society
2025

Imaging of Proteinopathies in the Brains of Parkinsonian Disorders.

Cells
2025

Disease-specific tau polymorphs define unique protein interaction networks across proteinopathies.

bioRxiv : the preprint server for biology
2025

CNS-Tau Specific Antibodies Illuminate Disease Signatures Across Tauopathies.

bioRxiv : the preprint server for biology
2025

Dynamic Stability Analysis of Progressive Supranuclear Palsy Affected Gait Using Lyapunov Floquet Theory.

IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society
2025

Facilitated α-synuclein oligomer sharing among glial cells by a centrally acting connexin inhibitor attenuates a rapidly progressive multiple system atrophy-cerebellar type model by reducing the neuronal α-synuclein burden.

Acta neuropathologica communications
2025

The Progressive Supranuclear Palsy Clinical Deficits Scale accurately reflects functional as well as patient- and caregiver-reported outcomes.

Parkinsonism &amp; related disorders
2025

[18F]THK5351 uptake in multiple system atrophy compared with other parkinsonian disorders.

Journal of neurology
2025

Neuroanatomical normative modelling in frontotemporal lobar degeneration: higher heterogeneity in the behavioural variant.

Journal of neurology
2026

Elevated levels of cerebrospinal fluid soluble triggering receptor expressed on myeloid cells 2 in multiple system atrophy: a marker of disease-associated microglial activation.

Journal of neural transmission (Vienna, Austria : 1996)
2025

α-Synuclein seed amplification assay positivity beyond synucleinopathies.

EBioMedicine
2025

Low synaptic and neurosecretory proteins in cerebrospinal fluid in early parkinsonian disease.

Journal of the neurological sciences
2026

Quantitative Susceptibility Mapping and Iron Deposition in Autopsy-Confirmed Progressive Supranuclear Palsy.

Movement disorders clinical practice
2025

The temporal order of genetic, environmental, and pathological risk factors in Parkinson's disease: paving the way to prevention.

The Lancet. Neurology
2026

Circadian Rhythms of Sleep-Wake, Thermoregulatory and Cardiovascular Function in Progressive Supranuclear Palsy.

Movement disorders clinical practice
2025

The "gunslinger" sign in neurological disorders.

Journal of the neurological sciences
2025

A Review of FDG-PET in Progressive Supranuclear Palsy and Corticobasal Syndrome.

International journal of molecular sciences
2026

Midsagittal Midbrain Area and Midbrain-to-Pons-Ratio Cannot Distinguish Overlap Syndromes Between Amyotrophic Lateral Sclerosis and Progressive Supranuclear Palsy.

Clinical neuroradiology
2025

Digital speech assessments and machine learning for differentiation of neurodegenerative diseases.

Clinical parkinsonism &amp; related disorders
2026

Enhancing interpretability of AI with radiomics-based deep neural network: proof of concept in the classification of Parkinsonian syndromes with 18F-FDG PET imaging.

European journal of nuclear medicine and molecular imaging
2025

Incidence and Prevalence of Frontotemporal Dementia: A Systematic Review and Meta-Analysis.

JAMA neurology
2025

Acetylation Mimetic and Null Mutations Within the Filament Core of P301L Tau Have Varied Effects on Susceptibility to Seeding and Aggregation.

Journal of neurochemistry
2025

Prevalence and correlated factors of REM sleep behavior disorder in patients with progressive supranuclear palsy.

Sleep medicine
2025

Revisiting Parkinson's disease definition and classification: insights from two emerging biological frameworks.

Journal of neural transmission (Vienna, Austria : 1996)
2026

Progressive Supranuclear Palsy-A Global Review.

Movement disorders clinical practice
Ver todos os 2.732 no EuropePMC

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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.

  1. Pan-neurodegeneration proteomics reveals disease subtypes and molecular signatures.
    Cell· 2026· PMID 41875888mais citado
  2. Fronto-medial theta instability error signal correlates with postural sway in Parkinson's disease and progressive supranuclear palsy.
    Journal of the neurological sciences· 2026· PMID 41864164mais citado
  3. [A case of progressive supranuclear palsy with progressive non-fluent agrammatic variant primary progressive aphasia who could sing fluently].
    Rinsho shinkeigaku = Clinical neurology· 2026· PMID 41833368mais citado
  4. Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.
    Annals of neurology· 2026· PMID 41830446mais citado
  5. Early clinical characteristics of pathologically confirmed progressive supranuclear palsy and corticobasal degeneration.
    Journal of neurology· 2026· PMID 41811516mais citado
  6. Biomarkers of Leucine-Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy.
    Mov Disord· 2026· PMID 41987507recente
  7. Clinicopathological features of primary tauopathies: a brain bank series.
    Front Neurol· 2026· PMID 41982423recente
  8. Exploring the phenotypic spectrum of frontotemporal lobar degeneration.
    Neurol Neurochir Pol· 2026· PMID 41979429recente
  9. Elucidating the Neurobiological Underpinnings of Mild Behavioral Impairment in Tauopathies: Clinical and Molecular Insights.
    Int J Mol Sci· 2026· PMID 41977515recente
  10. Metabolomic Cerebrospinal Fluid Biomarkers for the Diagnosis of Atypical Parkinsonian Syndromes.
    Int J Mol Sci· 2026· PMID 41977449recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:683(Orphanet)
  2. MONDO:0019037(MONDO)
  3. Esclerose Lateral Amiotrofica(PCDT · Ministério da Saúde)
  4. GARD:7471(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q945930(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

Paresia supranuclear progressiva
Compêndio · Raras BR

Paresia supranuclear progressiva

ORPHA:683 · MONDO:0019037
🇧🇷 Brasil SUS
Geral
Prevalência
1-9 / 100 000
Herança
Not applicable
CID-10
G23.1 · Oftalmoplegia supranuclear progressiva [Steele-Richardson-Olszewski]
CID-11
Ensaios
34 ativos
Início
Adult, Elderly
Prevalência
5.26 (Worldwide)
MedGen
UMLS
C0038868
EuropePMC
Wikidata
Wikipedia
Papers 10a
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