Raras
Buscar doenças, sintomas, genes...
Paralisia oculomotora supranuclear
ORPHA:98687DOENÇA RARA

Paralisia oculomotora que surge de lesões nas vias supranucleares que controlam o movimento extraocular.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Paralisia oculomotora que surge de lesões nas vias supranucleares que controlam o movimento extraocular.

Publicações científicas
18 artigos
Último publicado: 2023 Feb
🏥
SUS: Sem cobertura SUSScore: 0%
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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
👂
Ouvidos
3 sintomas
🦴
Ossos e articulações
3 sintomas
😀
Face
2 sintomas

+ 64 sintomas em outras categorias

Características mais comuns

Prosódia da fala anormal
Disartria lenta
Deterioração social e ocupacional
Disfagia neuromuscular
Hiperemia conjuntival
Rigidez muscular axial
112sintomas
Sem dados (112)

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

Prosódia da fala anormalAbnormal speech prosody
Disartria lentaSlowed slurred speech
Deterioração social e ocupacionalSocial and occupational deterioration
Disfagia neuromuscularNeuromuscular dysphagia
Hiperemia conjuntivalConjunctival hyperemia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2
Total histórico18PubMed
Últimos 10 anos200publicações
Pico2025160 papers
Linha do tempo
2024Hoje · 2026🧪 1995Primeiro ensaio clínico📈 2025Ano de pico
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.

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

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

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Paralisia oculomotora supranuclear

🗺️

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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

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.

#2

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

Journal of neurology2026 Mar 11

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.

#3

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

Cell reports2026 Feb 24

Tauopathies are neurodegenerative diseases marked by pathological tau aggregation. While disease-specific folds of insoluble tau filaments have been established, it remains unclear whether the smaller, earlier species also differ across tauopathies. Here, we characterize these small tau aggregates from postmortem brain of individuals with Alzheimer's disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration, Pick's disease, and healthy controls. Using two complementary single-molecule assays, we confirm that small tau aggregates vary in abundance, morphology, and post-translational modifications. AD features specific long, fibrillar-shaped aggregates enriched in phospho-epitopes, while PSP aggregates are shorter, round, and selectively phosphorylated at serine 356, a site we identify as correlating with markers of inflammation and apoptosis. Aggregate properties co-vary with cellular stress signatures and align with disease-specific seeding profiles, suggesting distinct pathological mechanisms. These findings suggest that small tau aggregates are not a shared intermediate but instead encode disease-specific mechanisms, with potential as both biomarkers and therapeutic targets.

#4

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

Cell2026 Feb 05

In Alzheimer's disease (AD), pathological tau protein shows a progressive accumulation of post-translational modifications (PTMs), reflecting disease severity, progression, and prion-like activity. Although many neurodegenerative diseases with dementia display tau aggregates, the pathological proteoforms of tau protein from each disease type remain unknown. Here, using a quantitative mass spectrometry-based proteomics platform, FLEXITau, deep characterization of pathological tau protein isolated from the brains of 203 human subjects with AD, familial AD (fAD), chronic traumatic encephalopathy (CTE), corticobasal degeneration (CBD), Pick's disease (PiD), progressive supranuclear palsy (PSP), dementia with Lewy bodies (DLB)-a non-tauopathy symptomatic control-and healthy controls (CTR) is performed. Unsupervised data analyses and supervised machine learning identify distinct molecular features of pathological tau for each disease, enabling molecular disease stratification. This study identifies potential disease-specific biomarkers and therapeutic targets for tauopathies and provides critical quantitative information for pharmacokinetic modeling required for therapeutic and disease mechanism studies.

#5

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

BMJ case reports2026 Jan 06

This case highlights the rare coexistence of Wernicke's encephalopathy, probable progressive supranuclear palsy and probable Alzheimer's disease. The patient presented with acute confusion, repeated falls, postural instability, bradyphrenia, apathy and vertical gaze palsy. Clinical examination raised suspicion of overlapping neurological syndromes. Complementary investigations included brain MRI which revealed periventricular hyperintense regions on T2 and on fluid-attenuated inversion recovery (FLAIR) sequences, suggestive of Wernicke's encephalopathy. A subsequent ioflupane (123I) single-photon emission computed tomography (SPECT) scan showed left-sided dysfunction of presynaptic dopamine transporters, supporting a parkinsonian syndrome. Cerebrospinal fluid biomarkers finally demonstrated elevated total and phosphorylated-tau levels and a decreased Aβ42/Aβ40 ratio, consistent with Alzheimer's pathology. Timely intravenous thiamine was initiated. Once the presumed diagnoses were clinically confirmed, multidisciplinary management was implemented, including physiotherapy and caregiver support.This case illustrates how acute syndromes can unmask or exacerbate chronic neurodegenerative conditions, underscoring, in addition to the need for early intervention, the necessity of a thorough clinical approach. This is especially the case in older adults presenting with complex cognitive and motor symptoms.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

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

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

Alzheimer's & dementia : the journal of the Alzheimer's Association
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

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

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

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

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
2025

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

International journal of molecular sciences
2026

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

Parkinsonism & related disorders
2025

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

Journal of neurology
2026

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

Journal of magnetic resonance imaging : JMRI
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
2026

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

Neurology
2026

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

Clinical nuclear medicine
2025

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

Neurology
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
2025

Movement Disorders and Oculomotor Abnormalities in Whipple's Disease: An Updated Systematic Review.

Tremor and other hyperkinetic movements (New York, N.Y.)
2025

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

CNS neuroscience & 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

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

Sleep phenotypes of α-synucleinopathies and tauopathies with Parkinsonism.

Parkinsonism & related disorders
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
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
2026

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

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
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

Central eye movement abnormalities in patients with SMA types II and III.

Neurophysiologie clinique = Clinical neurophysiology
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

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

Parkinsonism & related disorders
2025

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

Molecular psychiatry
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

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

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

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

Parkinsonism & related disorders
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

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

Journal of the neurological sciences
2025

Atypical parkinsonian syndromes in French Guiana: Similarities and differences with Caribbean variants.

Journal of Parkinson's disease
2026

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

Movement disorders clinical practice
2026

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

Movement disorders clinical practice
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

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

Sleep medicine
2026

Progressive Supranuclear Palsy-A Global Review.

Movement disorders clinical practice
2025

Multimodal MRI biomarkers optimize differentiation between progressive supranuclear palsy and Parkinson's disease.

Neurobiology of disease
2025

Alzheimer's disease traits in Parkinson's disease without α-synuclein seeding.

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

Brain Atrophy Does Not Predict Clinical Progression in Progressive Supranuclear Palsy.

Movement disorders : official journal of the Movement Disorder Society
2025

Prevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals.

Movement disorders : official journal of the Movement Disorder Society
2025

Comparison of Two α-Synuclein Seed Amplification Assays for Discrimination of Parkinson Disease and Atypical Parkinsonism.

Movement disorders : official journal of the Movement Disorder Society
2026

Artificial Intelligence Diagnosis of Ocular Motility Disorders From Clinical Videos.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2025

Differences in neuropsychological performance across clinical variants of progressive supranuclear palsy.

Journal of the International Neuropsychological Society : JINS
2025

Role of 18F-florzolotau PET in diagnostic and therapeutic decision-making for cognitive impairment.

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

Motor and non-motor features in progressive supranuclear palsy: the impact of microtubule associated protein tau haplotypes among a Tunisian cohort.

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

Cryo-EM structure of the vault from human brain reveals symmetry mismatch at its caps.

Structure (London, England : 1993)
2025

Pilot Study of [11C]HY-2-15: A Mixed Alpha-Synuclein and Tau PET Radiotracer.

Cells
2025

Magnetic Resonance Imaging of Extra Ocular Muscles and Oculomotor Nerves in Patients with Congenital Monocular Elevation Deficit.

Journal of binocular vision and ocular motility
2025

Relationships between neuronal loss, age of death, disease duration and MRI brain volumes in progressive supranuclear palsy.

Parkinsonism & related disorders
2025

An Exploratory Analysis of Differential Tear Fluid miRNAs in Patients with Parkinson's Disease and Atypical Parkinsonian Syndromes.

Molecular neurobiology
2025

Progressive Supranuclear Palsy and Corticobasal Syndrome.

Continuum (Minneapolis, Minn.)
2025

Noradrenaline for progressive supranuclear palsy syndromes (NORAPS): a randomised, double-blind, placebo-controlled, crossover Phase IIb clinical trial evaluating the efficacy and safety of oral atomoxetine for treating cognitive and behavioural changes in people with progressive supranuclear palsy syndromes in the UK.

BMJ open
2025

The Progression of NUS1-Associated Parkinson's Disease and the Diagnostic Potential of Plasma NgBR.

CNS neuroscience & therapeutics
2025

Diagnostic utility of tectal plate measures in clinical variants of progressive supranuclear palsy.

Journal of neurology
2025

Machine learning approach effectively discriminates between Parkinson's disease and progressive supranuclear palsy: Multi-level indices of rs-fMRI.

Brain research bulletin
2025

A Comparative Analysis of Different MRI Sequences Dedicated for Invivo Detection of Mineralization in a Single Large Cohort of Progressive Supranuclear Palsy and Healthy Controls.

Neurology India
2025

In search of the optimal MRI marker for progressive supranuclear palsy: a large, single-center, retrospective study on the effect of phenotype, diagnostic certainty and disease duration.

Journal of neurology
2025

Language impairment is associated with faster progression in progressive supranuclear palsy-Richardson syndrome.

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

The role of blood-based biomarkers in Parkinsonian disorders, Alzheimer's disease and frontotemporal dementia.

Journal of the neurological sciences
2025

Evidence for trans-synaptic propagation of oligomeric tau in human progressive supranuclear palsy.

Nature neuroscience
2025

Bedside Assessment of Downgaze Limit by Amplitude.

Movement disorders clinical practice
2025

Frontotemporal Lobar degeneration with TDP-43 presenting as progressive supranuclear palsy syndrome.

Acta neuropathologica communications
2025

Differences in the Regional T1/T2-Weighted Ratio Index Between Healthy Controls and Patients With Progressive Supranuclear Palsy.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society
2025

Dorsal hyperintensity and iron deposition patterns in the substantia nigra of Parkinson's disease, idiopathic REM sleep behavior disorder, and Parkinson-plus syndromes at 7T MRI: a prospective diagnostic study.

Translational neurodegeneration
2025

Tau positron emission tomography in the Parkinson and Richardson subtypes of progressive supranuclear palsy.

Parkinsonism & related disorders
2026

Can Language Characteristics Contribute to the Classification of Neurodegenerative Disorders? -An Exploratory Study.

Internal medicine (Tokyo, Japan)
2025

Progression and natural history of Atypical Parkinsonism (ATPARK): Protocol for a longitudinal follow-up study from an underrepresented population.

PloS one
2025

Brain Microstructure Interrogation by Diffusion Tensor and Kurtosis Imaging in Progressive Supranuclear Palsy Subtypes.

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

Differences in the soluble and insoluble proteome between primary tauopathies.

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

Spectral domain and angiography optical coherence tomography in atypical parkinsonisms and Parkinson disease: an explorative study.

Parkinsonism & related disorders
2025

Diagnostic and prognostic value of α-synuclein seed amplification assay kinetic measures in Parkinson's disease: a longitudinal cohort study.

The Lancet. Neurology
2025

Rehabilitation of Vertical Gaze Palsy and Impaired Eye Proprioception Following Bilateral Thalamic Infarcts: A Case Report.

NeuroRehabilitation
2025

The Impact of Neuropsychiatric Symptoms in Perceived Quality of Life in Patients With Progressive Supranuclear Palsy.

European journal of neurology
2025

Diffusion Tensor Imaging in Progressive Supranuclear Palsy Versus Other Neurodegenerative Diseases: A Review.

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

The potential of proteomics for in-depth molecular investigations of progressive supranuclear palsy.

Expert review of proteomics
2025

Clinical Diagnosis of Progressive Supranuclear Palsy (PSP): A Clinicopathological Comparison of Patients with Confirmed PSP and Clinical Mimics.

Movement disorders : official journal of the Movement Disorder Society
2025

Uncovering Image-Driven Subtypes with Distinct Pathology and Clinical Course in Autopsy-Confirmed Four Repeat Tauopathies.

Annals of neurology
2025

Brain Networks Route Neurodegeneration Patterns in Patients with Progressive Supranuclear Palsy.

Movement disorders : official journal of the Movement Disorder Society
2025

Feasibility of expiratory muscle strength training in individuals with progressive supranuclear palsy.

Neurodegenerative disease management
2025

Multifactorial etiology of progressive supranuclear palsy (PSP): the genetic component.

Acta neuropathologica
2025

Tackling gender in progressive supranuclear palsy: Male patients present more apathy.

Journal of Parkinson's disease
2025

Machine Learning Models of Voxel-Level [18F] Fluorodeoxyglucose Positron Emission Tomography Data Excel at Predicting Progressive Supranuclear Palsy Pathology.

Annals of neurology
2025

Magnetic Susceptibility and Area in the Subthalamic Nucleus Measured by QSM for Diagnosis of Progressive Supranuclear Palsy.

Movement disorders clinical practice
2025

Associations between neuropsychological profile and regional brain FDG uptake in progressive supranuclear palsy.

Journal of Parkinson's disease
2025

Choroid plexus enlargement correlates with subcortical tau deposition in progressive supranuclear palsy.

Fluids and barriers of the CNS
2025

[An autopsy case of a 76-year-old woman with progressive supranuclear palsy initially presenting with dropped head and clinical features of pure akinesia with gait freezing].

Rinsho shinkeigaku = Clinical neurology
2025

Comparative study of nonmotor symptoms in progressive supranuclear palsy and Parkinson's disease.

BMC neurology
2025

Evaluating the Homogeneity of the PSP-RS Syndrome beyond Core Features.

Movement disorders clinical practice
2025

A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC.

European journal of human genetics : EJHG
2025

Impact of gene-gene interactions in Progressive Supranuclear Palsy: new genetic perspectives in the Asian-Indian population.

Journal of neurogenetics
2025

The Genetic Background of the Immunological and Inflammatory Aspects of Progressive Supranuclear Palsy.

International journal of molecular sciences
2025

Neurophysiology of Atypical Parkinsonian Syndromes: A Study Group Position Paper.

Movement disorders : official journal of the Movement Disorder Society
2025

[Oculomotor disorders in patients with amyotrophic lateral sclerosis].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

High rates of diagnostic discordance and co-pathology: Insights into PSP from the NACC dataset.

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

Identifying Common Disease Trajectories of Progressive Supranuclear Palsy with Electronic Health Records.

Movement disorders clinical practice
2025

Phenotypic variants of progressive supranuclear palsy in a real-world dataset as identified by existing algorithms.

Journal of the neurological sciences
2025

Neuronally-Derived Extracellular Vesicles Transforming Growth Factor Beta-1 Levels in Progressive Supranuclear Palsy.

Movement disorders : official journal of the Movement Disorder Society
2025

Characterizing the expression profile of 3R tau pathology in Pick's disease.

Science advances
2025

Concomitant progressive supranuclear palsy and multiple system atrophy: A rare case report of tauopathy and synucleinopathy interface.

Journal of neuroradiology = Journal de neuroradiologie
2025

Association between adiponectin and lipids in Parkinson's disease.

Clinical neurology and neurosurgery
2025

Differentiating Progressive Supranuclear Palsy and Corticobasal Syndrome: Insights from Cerebrospinal Fluid Biomarkers-A Narrative Review.

Medicina (Kaunas, Lithuania)
2025

Argyrophilic Grain Disease Clinically Presenting as Progressive Supranuclear Palsy with Progressive Gait Freezing.

Movement disorders clinical practice
2025

Cell-specific mitochondrial response in progressive supranuclear palsy.

Mitochondrion
2025

A radiomics approach to distinguish Progressive Supranuclear Palsy Richardson's syndrome from other phenotypes starting from MR images.

Computer methods and programs in biomedicine
2025

Tongue strength in progressive supranuclear palsy.

Parkinsonism & related disorders
2025

Cognitive and neuropsychiatric profiles distinguish atypical parkinsonian syndromes.

Brain : a journal of neurology
2025

Midbrain cytotoxic T cells as a distinct neuropathological feature of progressive supranuclear palsy.

Brain : a journal of neurology
2025

Atypical Parkinsonian Disorders.

Neurologic clinics
2025

Plasma miRNA Biomarker Signatures in Parkinsonian Syndromes.

Molecular neurobiology
2025

Evaluating the diagnostic performance of six plasma biomarkers for Alzheimer's disease and other neurodegenerative dementias in a large Chinese cohort.

Alzheimer's research & therapy
2025

Cerebrospinal fluid and blood neurofilament light chain in Parkinson's disease and atypical parkinsonian syndromes: a systematic review and Bayesian network meta-analysis.

Journal of neurology
2025

Supranuclear Disorders of Eye Movements.

Continuum (Minneapolis, Minn.)
2025

I-Beam Sign in Progressive Supranuclear Palsy.

Neurology India
2025

Does Midbrain Atrophy Distinguish Progressive Supranuclear Palsy from Frontotemporal Dementia?

Movement disorders clinical practice
2026

Neuropsychiatric symptoms in sporadic Creutzfeldt-Jakob disease.

Brain : a journal of neurology
2025

AZP2006 (Ezeprogind®): a Promising New Drug Candidate in the Battle Against Neurodegenerative Diseases.

ChemMedChem
2025

Novel blood-based proteomic signatures across multiple neurodegenerative diseases.

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

Investigation of the significance of quantitative MRI parameters in differentiating PSP from MSA patients.

Neurodegenerative disease management
2025

Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism.

Journal of neurology
2025

Geometry based prediction of tau protein sites and motifs associated with misfolding and aggregation.

Scientific reports
2025

Investigation of the HLA locus in autopsy-confirmed progressive supranuclear palsy.

Immunobiology
2025

Deep brain stimulation in progressive supranuclear palsy: a dead-end story? A narrative review.

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

Binocular diplopia: a retrospective study of 204 cases.

Neurologia
2025

Automated Imaging Differentiation for Parkinsonism.

JAMA neurology
2025

Probe-dependent Proximity Profiling (ProPPr) Uncovers Similarities and Differences in Phospho-Tau-Associated Proteomes Between Tauopathies.

Molecular neurodegeneration
2025

Joint examination of reflexive vertical saccades and small involuntary fixational saccades improves the classification of patients with progressive supranuclear palsy (PSP): a ROC study.

Experimental brain research
2025

Radiosynthesis, In Vitro Characterization, and In Vivo PET Neuroimaging of [18F]F-4 for Tau Protein: A First-in-Human PET Study.

ACS chemical neuroscience
2025

Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.

Movement disorders : official journal of the Movement Disorder Society
2024

The longitudinal study of morphometric measurement changes in progressive supranuclear palsy.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
2025

A case report of palatal tremor in progressive supranuclear palsy.

Parkinsonism & related disorders
2025

Post-mortem validation of in vivo TSPO PET as a microglial biomarker.

Brain : a journal of neurology
2025

Taste impairment in patients with Parkinsonism.

Journal of neurology
2025

Assessment of Piezo1 Expression in Urinary Exfoliated Cells as a Diagnostic Indicator for Multiple System Atrophy.

Movement disorders : official journal of the Movement Disorder Society
2025

Annual percentage change of MR Parkinsonism index in progressive supranuclear palsy: a feasibility study.

European radiology
2025

Subcortical tau burden correlates with regional brain atrophy and plasma markers in four-repeat tauopathy parkinsonism.

Journal of Parkinson's disease
2025

GABAergic modulation of beta power enhances motor adaptation in frontotemporal lobar degeneration.

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

Eye movement disorders in genetic dystonia syndromes: A literature overview.

Parkinsonism & related disorders
2025

Relationships Between Glymphatic System Activity and Tau Burden, Dopaminergic Impairment, Abnormal Glucose Metabolism in Progressive Supranuclear Palsy.

CNS neuroscience & therapeutics
2024

Clinical prognostic factors in progressive supranuclear palsy: Implications for clinical trials.

Journal of Parkinson's disease
2025

Overlap in the diagnostic criteria of frontotemporal dementia syndromes with parkinsonism.

Journal of Alzheimer's disease : JAD
2025

Pathomechanisms of neuropsychiatric disturbances in atypical parkinsonian disorders: a current view.

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

Self-Reported REM Sleep Behavior Disorder in Patients With Progressive Supranuclear Palsy: Clinical and 18F-Florzolotau PET Imaging Findings.

Neurology
2025

Nigral Neuroinflammation and Dopaminergic Neurons in Parkinson's Disease and Atypical Parkinsonisms.

Annals of neurology
2025

Multimodality Brain Imaging Markers in Progressive Supranuclear Palsy Subtypes and Parkinson's Disease.

Movement disorders clinical practice
2025

Bowing Index in Individuals With Parkinson's Disease, Progressive Supranuclear Palsy, and Ataxia.

The Laryngoscope
2025

Application of elastic net for clinical outcome prediction and classification in progressive supranuclear palsy: A multicenter cohort study.

Parkinsonism & related disorders
2025

Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery.

Annals of neurology
2025

A Short Cognitive and Neuropsychiatric Assessment Scale for Progressive Supranuclear Palsy.

Movement disorders clinical practice
2025

Frequency of anti-IgLON5 disease in patients with a typical clinical presentation of progressive supranuclear palsy/corticobasal syndrome.

Parkinsonism & related disorders
2025

The Value of Quantitative Susceptibility Mapping and Morphometry in the Differential Diagnosis of Parkinsonism.

AJNR. American journal of neuroradiology
2024

Progressive supranuclear palsy: an updated approach on diagnosis, treatment, risk factors and outlook in Mexico.

Gaceta medica de Mexico
2025

Assisted Parkinsonism Diagnosis Using Multimodal MRI-The Role of Clinical Insights.

Brain and behavior
2025

Idiopathic normal pressure hydrocephalus concomitant with progressive supranuclear palsy.

Parkinsonism & related disorders
2025

Longitudinal assessment of white matter alterations in progressive supranuclear palsy variants using diffusion tractography.

Parkinsonism & related disorders
2025

Brain-derived tau oligomer polymorphs: distinct aggregations, stability profiles, and biological activities.

Communications biology
2025

Prospective Multicenter Evaluation of the MDS "Suggestive of PSP" Diagnostic Criteria.

Movement disorders : official journal of the Movement Disorder Society
2025

A smart tool for non expert clinicians for the dissemination of the MDS criteria for progressive supranuclear palsy.

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

A subgroup of multiple system atrophy with rapid decline in vital capacity.

Journal of the neurological sciences
2025

A 15-Item modification of the PSP rating scale to improve clinical meaningfulness and statistical performance.

Nature communications
2025

Oral applause sign in progressive supranuclear palsy.

Cortex; a journal devoted to the study of the nervous system and behavior
2025

Rapid Cognitive Deterioration in Progressive Supranuclear Palsy: A 1-Year Follow-Up Study.

Movement disorders clinical practice
2025

Iron(ing) out parkinsonisms: The interplay of proteinopathy and ferroptosis in Parkinson's disease and tau-related parkinsonisms.

Redox biology
2025

Flattened red nucleus in progressive supranuclear palsy detected by quantitative susceptibility mapping.

Parkinsonism & related disorders
2025

Functional connectivity abnormalities in clinical variants of progressive supranuclear palsy.

NeuroImage. Clinical
2024

The Effect of Alcohol Consumption on Progressive Supranuclear Palsy: A Cross-Sectional Study.

CNS neuroscience & therapeutics
2025

Clinical trial eligibility in PSP: Population representativeness and potential criteria adjustment based on PSP-NET findings.

Parkinsonism & related disorders
2025

Prediagnostic Phase of Progressive Supranuclear Palsy in a Longitudinal Epidemiological Study of Dementia and Aging.

Internal medicine (Tokyo, Japan)
2025

Utility of Cerebrospinal Fluid Transferrin Receptor per Ferritin Ratio in Progressive Supranuclear Palsy.

Movement disorders clinical practice
2024

Possible Impact of Peripheral Inflammatory Factors and Interleukin-1β (IL-1β) on Cognitive Functioning in Progressive Supranuclear Palsy-Richardson Syndrome (PSP-RS) and Progressive Supranuclear Palsy-Predominant Parkinsonism (PSP-P).

International journal of molecular sciences
2025

Carnitine supplementation in progressive supranuclear palsy.

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition
2025

Post mortem validation and mechanistic study of UCB-J in progressive supranuclear palsy patients' brains.

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

MRI 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 medicine
2025

Video-Oculography for Enhancing the Diagnostic Accuracy of Early Oculomotor Dysfunction in Progressive Supranuclear Palsy.

Journal of movement disorders
2024

Single-cell transcriptomic and neuropathologic analysis reveals dysregulation of the integrated stress response in progressive supranuclear palsy.

Acta neuropathologica
2025

A common marker of affect recognition dysfunction in the FTD spectrum of disorders.

European journal of neurology
2024

Spatial discrimination in patients with MSA, PSP, DIP, and VP with pain.

Scientific reports
2024

Differentiating atypical parkinsonian syndromes with hyperbolic few-shot contrastive learning.

NeuroImage
2024

Transdiagnostic Network Localization of Social, Language, and Motor Symptoms in Patients With Frontotemporal Lobar Degeneration.

Neurology

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Doenças relacionadas

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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.

  1. Early clinical characteristics of pathologically confirmed progressive supranuclear palsy and corticobasal degeneration.
    Journal of neurology· 2026· PMID 41811516mais citado
  2. Hypothalamic atrophy in progressive supranuclear palsy, assessed by convolutional neural network-based automatic segmentation.
    Journal of neurology· 2026· PMID 41811373mais citado
  3. Nanoscopic tau aggregates are not shared intermediates but disease-specific entities across tauopathies.
    Cell reports· 2026· PMID 41719130mais citado
  4. Molecular features of human pathological tau distinguish tauopathy-associated dementias.
    Cell· 2026· PMID 41616780mais citado
  5. Wernicke's encephalopathy unmasking progressive supranuclear palsy and Alzheimer's pathology: a diagnostic challenge in an older adult.
    BMJ case reports· 2026· PMID 41494708mais citado
  6. Vision function in children 10 years after grade 3 or 4 intraventricular haemorrhage with ventricular dilation: A masked prospective study.
    Dev Med Child Neurol· 2023· PMID 35735110recente
  7. Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.
    Medicine (Baltimore)· 2021· PMID 34918652recente
  8. [Supranuclear eye movement disorders].
    Ophthalmologe· 2019· PMID 30617564recente
  9. The Non-surgical Management of Ophthalmoplegia.
    J Binocul Vis Ocul Motil· 2018· PMID 30196779recente
  10. Supranuclear eye movement disorders.
    Curr Opin Ophthalmol· 2014· PMID 25211041recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:98687(Orphanet)
  2. MONDO:0020257(MONDO)
  3. GARD:19546(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55789251(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

Paralisia oculomotora supranuclear
Compêndio · Raras BR

Paralisia oculomotora supranuclear

ORPHA:98687 · MONDO:0020257
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C5681698
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