Raras
Buscar doenças, sintomas, genes...
Falência autonômica pura
ORPHA:441CID-10 · G90.8CID-11 · 8D84DOENÇA RARA

A Insuficiência Autonômica Pura (IAP) é uma doença neurodegenerativa que afeta a parte simpática do sistema nervoso autônomo e que se manifesta com pressão baixa ao se levantar.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Insuficiência Autonômica Pura (IAP) é uma doença neurodegenerativa que afeta a parte simpática do sistema nervoso autônomo e que se manifesta com pressão baixa ao se levantar.

Pesquisas ativas
14 ensaios
70 total registrados no ClinicalTrials.gov
Publicações científicas
469 artigos
Último publicado: 2026 Apr 7

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Adult
+ elderly
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G90.8
🇧🇷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

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫘
Rins
1 sintomas
🫃
Digestivo
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

90%prev.
Sintoma constitucional
Muito frequente (99-80%)
90%prev.
Anormalidade do nível circulante de catecolaminas
Muito frequente (99-80%)
90%prev.
Hipotensão ortostática
Muito frequente (99-80%)
90%prev.
Anidrose
Muito frequente (99-80%)
90%prev.
Fisiologia anormal do sistema nervoso autônomo
Muito frequente (99-80%)
55%prev.
Síncope
Frequente (79-30%)
10sintomas
Muito frequente (5)
Frequente (4)
Ocasional (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.

Sintoma constitucionalConstitutional symptom
Muito frequente (99-80%)90%
Anormalidade do nível circulante de catecolaminasAbnormality of circulating catecholamine level
Muito frequente (99-80%)90%
Hipotensão ortostáticaOrthostatic hypotension
Muito frequente (99-80%)90%
AnidroseAnhidrosis
Muito frequente (99-80%)90%
Fisiologia anormal do sistema nervoso autônomoAbnormal autonomic nervous system physiology
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico469PubMed
Últimos 10 anos200publicações
Pico201727 papers
Linha do tempo
2026Hoje · 2026🧪 1992Primeiro ensaio clínico📈 2017Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

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.
3Fase 31
2Fase 21
1Fase 15
·Pré-clínico13
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 — Falência autonômica pura

🗺️

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

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

Outros ensaios clínicos

70 ensaios clínicos encontrados, 14 ativos.

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

Timeline de publicações
193 papers (10 anos)
#1

Pure autonomic failure: a natural history study of the Queen Square cohort.

Brain : a journal of neurology2026 Feb 07

The current research challenge in pure autonomic failure (PAF) lies in identifying specific biomarkers that can differentiate it from the other Lewy body disorders (Parkinson's disease, Parkinson's disease dementia, dementia with Lewy bodies) and multiple system atrophy in the early stages and predict phenoconversion trajectories to more widespread impairment. In this study, we described the natural history of our cohort of patients with PAF over five decades and validated a cluster of clinical, autonomic, and neuroimaging biomarkers that help identify clinical profiles susceptible to further neurodegeneration, working towards a biological definition of PAF. Consecutive patients with an initial diagnosis of PAF were recruited and monitored through key milestones (disease onset, first and repeat autonomic assessment, phenoconversion, and death/final contact). A subset underwent brain MRI and DaTSCAN (dopamine transporter single-photon emission CT scan). Uni- and multivariate regression analyses explored the associations among different factors, survival times, and phenoconversion, and were used to predict the probability of phenoconversion. Altogether, 281 patients with PAF were followed for a median of 10 years. Of these, 33% (91) converted to a more widespread synucleinopathy, and 41% (115) died during follow-up, of whom 53% (61) retained a PAF phenotype. Baseline cardiovascular autonomic biomarkers were key in differentiating disease trajectories and repeat testing indicated worsening of autonomic failure during the disease course. Median survival of patients with PAF was 15 years from orthostatic symptoms onset and was mostly influenced by age and the severity of orthostatic hypotension. Overall, 39% of patients had abnormal DaTSCAN results up to 7 years before phenoconversion, with 84% of these patients progressing to more widespread synucleinopathy. Male sex, older age, dream enactment behaviour and supine noradrenaline levels >200 pg/ml correlated with the risk of phenoconversion to Lewy body disorders, whereas younger age, bladder dysfunction, catheter use and dream enactment behaviour were associated with phenoconversion to multiple system atrophy. Our natural history study involves the largest single-centre longitudinal cohort of patients with an initial diagnosis of PAF and identifies robust clinical, autonomic, and neuroimaging biomarkers that, when used together, could serve as a novel and sensitive screening tool for early identification and stratification of patients at risk of phenoconversion to more widespread synucleinopathy.

#2

Pure autonomic failure as an essential window into progression of synucleinopathies.

Brain : a journal of neurology2026 Feb 07
#3

Differential patterns of central synucleinopathy and catecholaminergic abnormalities in Lewy body diseases and multiple system atrophy.

Parkinsonism &amp; related disorders2026 Mar 14

Parkinson's disease (PD), pure autonomic failure (PAF), and multiple system atrophy (MSA) feature intracellular deposition of alpha-synuclein and catecholamine deficiency in the putamen or heart. This retrospective, cross-sectional, observational study assessed relationships of cerebrospinal fluid alpha-synuclein seed amplification assay (CSF SAA) data with catecholamine deficiency indicated by positron emission tomography (PET). In groups with PD, PAF, parkinsonian MSA (MSA-P), or cerebellar MSA (MSA-C) SAAs were conducted by Rocky Mountain Laboratories (RML) and Amprion, Inc. using different assay conditions. 18F-DOPA PET examined putamen dopaminergic innervation, and 18F-dopamine PET assessed cardiac noradrenergic innervation. CSF SAAs by both RML and Amprion separated PD or PAF from MSA. The Amprion assay detected type 1 seeding associated with Lewy body diseases (LBDs) in 22/24 (92%) PD patients and 15/16 (94%) PAF patients and type 2 seeding associated with MSA in 9/10 (90%) MSA-P and 3/4 (75%) MSA-C patients (p < 0.0001). All of 24 PD and all of 9 MSA-P patients had low putamen/occipital cortex ratios of 18F-DOPA-derived radioactivity, while 11/13 (85%) PAF patients and 4/4 (100%) MSA-C patients had normal ratios. Contingency analyses of CSF SAA and brain 18F-DOPA PET efficiently separated the 4 groups (p < 0.0001). CSF SAAs and cardiac 18F-dopamine PET distinguish LBDs from MSA but not PAF from PD or MSA-P from MSA-C. 18F-DOPA PET separates PAF from PD and MSA-P from MSA-C. Combining biomarkers differentiates among these synucleinopathies.

#4

Emerging Role of Liquid Chromatography-Mass Spectrometry in the Clinical Laboratory Evaluation of Chronic Autonomic Failure.

Journal of neurochemistry2026 Mar

Liquid chromatography with electrochemical detection (LC-ED) after batch alumina extraction has been the mainstay for assaying levels of catecholamines and related 3,4-dihydroxy compounds (catechols) as part of the clinical laboratory workup of patients with neurogenic orthostatic hypotension, especially in the setting of the autonomic synucleinopathies Parkinson disease with orthostatic hypotension (PD + OH), pure autonomic failure (PAF), and multiple system atrophy (MSA). Liquid chromatography with tandem mass spectrometry (LC-MS/MS) is faster and measures catechols and non-catechol metabolites simultaneously but has not yet been validated sufficiently against LC-ED or used to assess catechol vs. non-catechol neurochemical abnormalities in autonomic synucleinopathies. We measured plasma catechols by LC-MS/MS and LC-ED in patients with PAF, PD + OH, or MSA and healthy controls. Cardiac sympathetic neuroimaging by 18F-dopamine positron emission tomography (PET) was used to indicate myocardial norepinephrine (NE) content in the same subjects. Across 41 participants (12 PAF, 9 PD + OH, 10 MSA, 10 controls) individual values for plasma 3,4-dihydroxyphenylglycol (DHPG), NE, and 3,4-dihydroxyphenylalanine (DOPA) by LC-MS/MS correlated positively with values by LC-ED (r = 0.97, 0.98, and 1.00, p < 0.0001 each). The PAF group had low mean NE, DHPG, normetanephrine, 3-methoxy-4-hydroxyphenylglycol, epinephrine, and metanephrine compared to the PD + OH group, while cardiac PET did not separate the 2 groups. We therefore conclude that LC-MS/MS validly assays plasma catechols. Several catechol and non-catechol biomarkers of generalized catecholamine deficiency separate PAF from PD + OH but not PD + OH from MSA, while 18F-dopamine PET separates PAF and PD + OH from MSA but not PAF from PD + OH. Combining LC-MS/MS with cardiac sympathetic neuroimaging efficiently differentiates among these conditions.

#5

Association of Autonomic Dysfunction With Long COVID: Evaluation Using Quantitative Autonomic Testing.

Journal of the American College of Cardiology2026 Jan 20

Persistent symptoms (eg, heart palpitations, lightheadedness, fatigue) despite resolution of acute COVID-19 infection is termed "long COVID syndrome" or simply "long COVID." Long COVID is believed to be associated with autonomic dysfunction, but the nature and severity of any autonomic disturbances are not well understood. This study sought to compare autonomic function measures in patients with long COVID, control subjects, and individuals with pure autonomic failure. Patients referred for autonomic testing were classified into 3 groups: long COVID (acute COVID-19 infection ≥12 weeks before testing), control subjects (COVID-19 negative, normal autonomic tests), and pure autonomic failure (COVID-19 negative, abnormal autonomic testing). Heart rate and blood pressure were recorded during active standing, Valsalva maneuver, respiratory sinus arrhythmia, and tilt-table testing. Compared with control subjects, patients with long COVID exhibited both a greater heart rate increase and blood pressure drop with active standing and tilt-table testing (all P < 0.05). They also had lower Valsalva ratios and respiratory sinus arrhythmia values than did control subjects (both P < 0.05). Compared with pure autonomic failure patients, patients with long COVID had a greater heart rate increase but a lower drop in blood pressure with active standing and tilt-table testing and lesser respiratory sinus arrhythmia values and Valsalva ratios (all P < 0.001). After age and sex adjustment, autonomic dysfunction measures in patients with long COVID were comparable with those in the pure autonomic failure group. Further, autonomic testing abnormalities were observed in patients referred up to 40 months after infection. When adjusted for age and sex, patients with long COVID may demonstrate persistent autonomic dysfunction that is similar to patients with pure autonomic failure.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC144 artigos no totalmostrando 190

2026

Differential patterns of central synucleinopathy and catecholaminergic abnormalities in Lewy body diseases and multiple system atrophy.

Parkinsonism &amp; related disorders
2026

Emerging Role of Liquid Chromatography-Mass Spectrometry in the Clinical Laboratory Evaluation of Chronic Autonomic Failure.

Journal of neurochemistry
2026

Pure autonomic failure as an essential window into progression of synucleinopathies.

Brain : a journal of neurology
2025

Should Neurogenic Supine Hypertension Be Treated? Insights from Hypertension-Mediated Organ Damage Studies-A Narrative Review.

Biomedicines
2026

Long COVID as Intermediate Physiology: Rethinking Autonomic Dysfunction and Medical Uncertainty.

Journal of the American College of Cardiology
2026

Association of Autonomic Dysfunction With Long COVID: Evaluation Using Quantitative Autonomic Testing.

Journal of the American College of Cardiology
2026

Quality of life and disability in pure autonomic failure: More than a prodromal synucleinopathy.

Parkinsonism &amp; related disorders
2026

Establishing minimally clinically important differences for the orthostatic hypotension questionnaire (OHQ).

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2025

Idiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report.

BMC neurology
2025

Cardiac MIBG scintigraphy in pure autonomic failure: A systematic review.

Journal of the neurological sciences
2025

Multitracer PET to Assess Cardiac Sympathetic Innervation and Vesicular Storage in Lewy Body Diseases.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine
2025

Approach to Cardiovascular Autonomic Dysfunction in Patients with Synucleinopathies.

Movement disorders clinical practice
2026

Cardiac 123I-Meta-Iodobenzylguanidine Imaging as a Biomarker for Body-First Parkinson's Disease: Linking Peripheral α-Synuclein to Clinical Subtyping.

Journal of movement disorders
2025

Harlequin syndrome: using clinical features and autonomic testing to unmask the disorder.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2025

Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure.

Annals of clinical and translational neurology
2025

Autonomic nervous system dysregulation in neurodegenerative diseases: Bridging brain and heart.

Progress in brain research
2025

The MSA Atrophy Index (MSA-AI): An Imaging Marker for Diagnosis and Clinical Progression in Multiple System Atrophy.

Annals of clinical and translational neurology
2025

Crosstalk between bladder-cardiovascular autonomic nervous system in synucleinopathies.

Autonomic neuroscience : basic &amp; clinical
2025

Prevalence of Supine Hypertension in Alpha-Synucleinopathies: A Systematic Review and Meta-Analysis.

Movement disorders clinical practice
2026

Pure autonomic failure: a natural history study of the Queen Square cohort.

Brain : a journal of neurology
2025

The Usefulness of 131 I-MIBG Myocardial Scintigraphy in a Case of Pure Autonomic Failure - First Report in the Literature.

Annals of Indian Academy of Neurology
2025

Pure autonomic failure, phenoconversion phenomenon and autonomic non-motor subtype of Parkinson disease: The chicken or the egg?

Parkinsonism &amp; related disorders
2025

The phenotype of "pure" autonomic failure.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2025

Sustained therapeutic effect of spinal cord stimulation on improving severe neurogenic orthostatic hypotension in a patient with pure autonomic failure converting to multiple system atrophy.

Journal of neurology
2025

Central Involvement in Pure Autonomic Failure: Insights from Neuromelanin-Sensitive Magnetic Resonance Imaging and 18F-Fluorodopa-Positron Emission Tomography.

Movement disorders : official journal of the Movement Disorder Society
2025

Pathophysiological Significance of α-Synuclein in Sympathetic Nerves: In Vivo Observations.

Neurology
2025

Clinical Correlates of Efficacy of Pyridostigmine in the Treatment of Orthostatic Hypotension.

Hypertension (Dallas, Tex. : 1979)
2025

Decreased urinary excretion of norepinephrine and dopamine in autonomic synucleinopathies.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2024

A-synuclein prion strains differentially adapt after passage in mice.

PLoS pathogens
2025

Cutaneous phosphorylated-synuclein: an early diagnostic biomarker for pure autonomic failure.

Journal of neurology, neurosurgery, and psychiatry
2024

SARS-CoV-2 Infection and Alpha-Synucleinopathies: Potential Links and Underlying Mechanisms.

International journal of molecular sciences
2024

Pelvic autonomic dysfunction is common in patients with pure autonomic failure.

European journal of neurology
2024

Intrasubject reproducibility of supine norepinephrine plasma concentrations in patients with cardiovascular sympathetic failure.

Autonomic neuroscience : basic &amp; clinical
2024

Biofluid Detection of Pathological α-Synuclein in the Prodromal Phase of Synucleinopathies.

Journal of Parkinson's disease
2024

Cerebrospinal fluid concentration gradients of catechols in synucleinopathies.

Journal of neurochemistry
2024

An update on multiple system atrophy.

Current opinion in neurology
2024

Parkinson's Disease and Dementia with Lewy Bodies: One and the Same.

Journal of Parkinson's disease
2024

Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies.

JAMA
2024

Clinical Characteristics and Outcomes in Young-Onset Multiple System Atrophy.

Movement disorders clinical practice
2024

Tilt-evoked, breathing-driven blood pressure oscillations: Independence from baroreflex-sympathoneural function.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2024

Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study.

Brain : a journal of neurology
2024

Unveiling autonomic failure in synucleinopathies: Significance in diagnosis and treatment.

Revue neurologique
2024

Hemodynamic recognition of pure autonomic failure: A case report.

Journal of cardiology cases
2024

An overview on pure autonomic failure.

Revue neurologique
2023

Primary Sjogren's syndrome presenting as an isolated severe autonomic dysfunction treated with steroids.

BMJ case reports
2024

Abnormal dopamine transporter imaging in pure autonomic failure: a potential biomarker of central nervous system involvement.

European journal of neurology
2023

Hemodynamic Effects of the Osmopressor Response: A Systematic Review and Meta-Analysis.

Journal of the American Heart Association
2023

Cardiac 18F-dopamine positron emission tomography predicts the type of phenoconversion of pure autonomic failure.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2023

Autonomic failure: Clinicopathologic, physiologic, and genetic aspects.

Handbook of clinical neurology
2023

Exploring the impact of caring for an individual with neurogenic orthostatic hypotension: a qualitative study.

Neurodegenerative disease management
2023

Post-Traumatic Stress Disorder and Risk of Degenerative Synucleinopathies: Systematic Review and Meta-Analysis.

The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry
2023

Alpha-synuclein in Parkinson's disease and other synucleinopathies: from overt neurodegeneration back to early synaptic dysfunction.

Cell death &amp; disease
2023

D-685 Reverses Motor Deficits and Reduces Accumulation of Human α-Synuclein Protein in Two Different Parkinson's Disease Animal Models.

ACS chemical neuroscience
2023

Seed amplification assay for the detection of pathologic alpha-synuclein aggregates in cerebrospinal fluid.

Nature protocols
2023

Continuous Positive Airway Pressure for the Treatment of Supine Hypertension and Orthostatic Hypotension in Autonomic Failure.

Hypertension (Dallas, Tex. : 1979)
2022

Imaging in autonomic failure: a window into real-time physiological mechanisms and other updates on recent autonomic research.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2023

Health-related quality-of-life and burden for caregivers of individuals with neurogenic orthostatic hypotension.

Neurodegenerative disease management
2022

Real-Time Magnetic Resonance Imaging to Study Orthostatic Intolerance Mechanisms in Human Beings: Proof of Concept.

Journal of the American Heart Association
2022

Alterations in electrochemical skin conductance as a marker of autonomic dysfunction in multiple system atrophy.

Parkinsonism &amp; related disorders
2022

Pure Autonomic Failure-A Localized Alpha Synucleinopathy with a Potential for Conversion to More Extensive Alpha Synucleinopathies.

Annals of Indian Academy of Neurology
2022

Renal Transplantation in Pure Autonomic Failure.

Transplantation direct
2022

[Evaluation of Disopyramide Efficacy for Refractory Syncope in Heart Failure with Preserved Ejection Fraction Using Holter Electrocardiography: A Case Report].

Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan
2022

Cerebrovascular regulation in patients with vasovagal syncope and autonomic failure due to familial amyloidotic polyneuropathy.

Autonomic neuroscience : basic &amp; clinical
2022

Recent advances in establishing fluid biomarkers for the diagnosis and differentiation of alpha-synucleinopathies - a mini review.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2022

Diagnosing Premotor Multiple System Atrophy: Natural History and Autonomic Testing in an Autopsy-Confirmed Cohort.

Neurology
2022

[Dizziness upon standing: consider autonomic dysfunction].

Nederlands tijdschrift voor geneeskunde
2022

A Case of Pure Autonomic Failure Initially Presenting with Hemihypohidrosis: Twelve-Year Follow-Up.

Case reports in neurology
2022

Alpha-Synuclein Strain Variability in Body-First and Brain-First Synucleinopathies.

Frontiers in aging neuroscience
2022

Synuclein-One study: skin biopsy detection of phosphorylated α-synuclein for diagnosis of synucleinopathies.

Biomarkers in medicine
2022

[Autonomic Dysfunction in Lewy Body Disease].

Brain and nerve = Shinkei kenkyu no shinpo
2022

[Pathological Study of Pure Autonomic Failure].

Brain and nerve = Shinkei kenkyu no shinpo
2022

Passive Immunization in Alpha-Synuclein Preclinical Animal Models.

Biomolecules
2022

Machine learning applied to ambulatory blood pressure monitoring: a new tool to diagnose autonomic failure?

Journal of neurology
2021

Relationships Between Cardiovascular Autonomic Profile and Work Ability in Patients With Pure Autonomic Failure.

Frontiers in human neuroscience
2022

Pure autonomic failure: the first report in Poland?

Polish archives of internal medicine
2021

[A case of pure autonomic failure that eventually developed into multiple system atrophy 5 years later].

Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics
2022

The role of cardiovascular autonomic failure in the differential diagnosis of α-synucleinopathies.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2021

Inhibition of the norepinephrine transporter to treat neurogenic orthostatic hypotension: is this the end of the story?

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2021

Lewy pathology of the submandibular gland in Lewy body disease: A report of autopsy cases.

Neuropathology : official journal of the Japanese Society of Neuropathology
2021

Different phenoconversion pathways in pure autonomic failure with versus without Lewy bodies.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2021

Pure Autonomic Failure: A Case Report of Recurrent Orthostatic Hypotension.

JNMA; journal of the Nepal Medical Association
2021

Pure autonomic failure and the differential diagnosis of autonomic peripheral neuropathies.

Current opinion in neurology
2021

Cardiology meets neurology: clinical presentation and management of patients with primary neurogenic disorders and orthostatic intolerance.

Herzschrittmachertherapie &amp; Elektrophysiologie
2021

Synuclein in neurodegeneration.

Advances in clinical chemistry
2021

Predictors of the Pressor Response to the Norepinephrine Transporter Inhibitor, Atomoxetine, in Neurogenic Orthostatic Hypotension.

Hypertension (Dallas, Tex. : 1979)
2021

The new frontier in pure autonomic failure: getting a grip on cerebral blood flow.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2021

Differential abnormalities of cerebrospinal fluid dopaminergic versus noradrenergic indices in synucleinopathies.

Journal of neurochemistry
2021

Dysautonomia: A Forgotten Condition - Part 1.

Arquivos brasileiros de cardiologia
2021

Alpha-Synuclein Oligomers and Neurofilament Light Chain Predict Phenoconversion of Pure Autonomic Failure.

Annals of neurology
2021

Local Passive Heat for the Treatment of Hypertension in Autonomic Failure.

Journal of the American Heart Association
2021

Do indices of baroreflex failure and peripheral noradrenergic deficiency predict the magnitude of orthostatic hypotension in Lewy body diseases?

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2021

Neurogenic Orthostatic Hypotension. Lessons From Synucleinopathies.

American journal of hypertension
2021

Elevated cerebral blood flow in patients with pure autonomic failure.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2021

Can novel non-invasive autonomic tests help discriminate between pure autonomic failure and multiple system atrophy?

Autonomic neuroscience : basic &amp; clinical
2021

Clinical and neurohormonal characteristics in African Americans with neurogenic orthostatic hypotension.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2020

Cardioselective peripheral noradrenergic deficiency in Lewy body synucleinopathies.

Annals of clinical and translational neurology
2021

Lewy pathology of the esophagus correlates with the progression of Lewy body disease: a Japanese cohort study of autopsy cases.

Acta neuropathologica
2020

Repeated hypoglycemia remodels neural inputs and disrupts mitochondrial function to blunt glucose-inhibited GHRH neuron responsiveness.

JCI insight
2020

Comparison of 123I-MIBG scintigraphy and phosphorylated α-synuclein skin deposits in synucleinopathies.

Parkinsonism &amp; related disorders
2020

Pharmacologic treatment of orthostatic hypotension.

Autonomic neuroscience : basic &amp; clinical
2020

Cardiac sympathetic innervation and vesicular storage in pure autonomic failure.

Annals of clinical and translational neurology
2020

The "Sick-but-not-Dead" Phenomenon Applied to Catecholamine Deficiency in Neurodegenerative Diseases.

Seminars in neurology
2020

Autonomic Dysfunction in the Synucleinopathies.

Seminars in neurology
2020

Cerebrospinal fluid fistula in a patient with chronic constipation related to an autonomic dysfunction and revealed by bacterial meningitis - A case report.

Surgical neurology international
2020

Is Ross Syndrome a New Type of Synucleinopathy? A Brief Research Report.

Frontiers in neuroscience
2020

Predicting phenoconversion in pure autonomic failure.

Neurology
2020

The impact of supine hypertension on target organ damage and survival in patients with synucleinopathies and neurogenic orthostatic hypotension.

Parkinsonism &amp; related disorders
2020

An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention.

Journal of neurology
2020

"Sick-but-not-dead": multiple paths to catecholamine deficiency in Lewy body diseases.

Stress (Amsterdam, Netherlands)
2020

Ultrasensitive RT-QuIC assay with high sensitivity and specificity for Lewy body-associated synucleinopathies.

Acta neuropathologica
2020

Mechanisms of alpha-synuclein toxicity: An update and outlook.

Progress in brain research
2020

Diagnosing multiple system atrophy at the prodromal stage.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2020

Autonomic ganglionic injection of α-synuclein fibrils as a model of pure autonomic failure α-synucleinopathy.

Nature communications
2020

Synucleinopathies: Where we are and where we need to go.

Journal of neurochemistry
2020

Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.

Neurobiology of disease
2020

The catecholaldehyde hypothesis: where MAO fits in.

Journal of neural transmission (Vienna, Austria : 1996)
2019

Correlations of Neuropsychological and Metabolic Brain Changes in Parkinson's Disease and Other α-Synucleinopathies.

Frontiers in neurology
2019

Autonomic dysfunction: Diagnosis and management.

Handbook of clinical neurology
2020

Orthostatic Hypotension in Parkinson Disease.

Clinics in geriatric medicine
2019

Sensitivity and specificity of cardiac 123I-MIBG scintigraphy for diagnosis of early-phase Parkinson's disease.

Journal of the neurological sciences
2019

Long-term trends in myocardial sympathetic innervation and function in synucleinopathies.

Parkinsonism &amp; related disorders
2019

Cognitive and Behavioral Changes in Patients Treated With Droxidopa for Neurogenic Orthostatic Hypotension: A Retrospective Review.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology
2019

Pure autonomic failure presenting as Harlequin syndrome.

Autonomic neuroscience : basic &amp; clinical
2020

A case of autonomic failure in post-craniectomy syndrome of the trephined.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2019

Small fiber neuropathy and phosphorylated alpha-synuclein in the skin of E46K-SNCA mutation carriers.

Parkinsonism &amp; related disorders
2019

Orthostatic hypotension and REM sleep behaviour disorder: impact on clinical outcomes in α-synucleinopathies.

Journal of neurology, neurosurgery, and psychiatry
2019

Role of nurses and nurse practitioners in the recognition, diagnosis, and management of neurogenic orthostatic hypotension: a narrative review.

International journal of general medicine
2019

Autonomic Dysfunction in α-Synucleinopathies.

Frontiers in neurology
2019

Usefulness of Blood Pressure Variability Indices Derived From 24-Hour Ambulatory Blood Pressure Monitoring in Detecting Autonomic Failure.

Journal of the American Heart Association
2019

Dopamine transporter imaging versus myocardial MIBG scintigraphy for the diagnosis of prodromal synucleinopathies-and other updates on autonomic research.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2019

Droxidopa for Hypotension of Different Etiologies: Two Case Reports.

P &amp; T : a peer-reviewed journal for formulary management
2019

Blood pressure circadian rhythm alterations in alpha-synucleinopathies.

Journal of neurology
2019

MIBG Myocardial Scintigraphy Identifies Premotor PD/DLB During a Negative DAT Scan Period: Second Report.

Movement disorders clinical practice
2019

Droxidopa for the treatment of neurogenic orthostatic hypotension in neurodegenerative diseases.

Expert opinion on pharmacotherapy
2019

Moving forward the in vivo diagnosis of the synucleinopathies.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2018

Pure Autonomic Failure with Asymptomatic Hypertensive Urgency: A Case Report and Literature Review.

Case reports in neurology
2019

Skin nerve α-synuclein deposits in Parkinson's disease and other synucleinopathies: a review.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2018

Skin α-synuclein deposits differ in clinical variants of synucleinopathy: an in vivo study.

Scientific reports
2018

Supine plasma NE predicts the pressor response to droxidopa in neurogenic orthostatic hypotension.

Neurology
2018

Orthostatic Hypotension: JACC State-of-the-Art Review.

Journal of the American College of Cardiology
2018

Characterization of the symptoms of neurogenic orthostatic hypotension and their impact from a survey of patients and caregivers.

BMC neurology
2018

Roles of cardiac sympathetic neuroimaging in autonomic medicine.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2018

Rapid eye movement sleep behavior disorder and the link to alpha-synucleinopathies.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2018

Autonomic dysfunction in genetic forms of synucleinopathies.

Movement disorders : official journal of the Movement Disorder Society
2018

Treatment of autonomic dysfunction in Parkinson disease and other synucleinopathies.

Movement disorders : official journal of the Movement Disorder Society
2018

Orthostatic heart rate changes in patients with autonomic failure caused by neurodegenerative synucleinopathies.

Annals of neurology
2018

Spectrum of abnormalities of sympathetic tyrosine hydroxylase and alpha-synuclein in chronic autonomic failure.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2018

Sympathetic neurograms showing characteristics of both muscle and skin sympathetic nerve activity in a case with pure autonomic failure.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2018

Autonomic dysfunction predicts poor outcome in stroke: Updates on recent autonomic research.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2018

Neuropathology of autonomic dysfunction in synucleinopathies.

Movement disorders : official journal of the Movement Disorder Society
2018

The effects of recurrent hypoglycaemia and opioid antagonists on the adrenal catecholamine synthetic capacity in a rat model of HAAF.

Autonomic neuroscience : basic &amp; clinical
2018

Does sympathetic dysfunction occur before denervation in pure autonomic failure?

Clinical science (London, England : 1979)
2018

Diagnosis of multiple system atrophy.

Autonomic neuroscience : basic &amp; clinical
2018

Symptomatic therapy of multiple system atrophy.

Autonomic neuroscience : basic &amp; clinical
2018

Treatment of supine hypertension in autonomic failure: a case series.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2019

The heart of PD: Lewy body diseases as neurocardiologic disorders.

Brain research
2017

Hypothalamic Glucose Transport in Humans During Experimentally Induced Hypoglycemia-Associated Autonomic Failure.

The Journal of clinical endocrinology and metabolism
2017

Let's not forget about the vagus and other updates on recent autonomic research.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2017

Epidemiology, Diagnosis, and Management of Neurogenic Orthostatic Hypotension.

Movement disorders clinical practice
2017

Managing neurogenic orthostatic hypotension in a patient presenting with pure autonomic failure who later developed Parkinson disease.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2017

Possible Involvement of Hypotension in Postprandial Headache: A Case Series.

Headache
2017

Initiating droxidopa for neurogenic orthostatic hypotension in a patient with Parkinson disease.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2017

Droxidopa for Symptomatic Neurogenic Hypotension.

Cardiology in review
2017

Iodine-123-meta-iodobenzylguanidine Myocardial Scintigraphy in Isolated Autonomic Failure: Potential Red Flag for Future Multiple System Atrophy.

Frontiers in neurology
2017

REM Sleep Behavior Disorder in Parkinson's Disease and Other Synucleinopathies.

Movement disorders : official journal of the Movement Disorder Society
2017

Letter on "Natural history of pure autonomic failure: A United States prospective cohort".

Annals of neurology
2017

Very late-onset pure autonomic failure.

Movement disorders : official journal of the Movement Disorder Society
2017

Is pure autonomic failure a distinct nosologic entity?

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2017

Is pure autonomic failure an early marker for Parkinson disease, dementia with Lewy bodies, and multiple system atrophy? And other updates on recent autonomic research.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2017

Pure autonomic failure without alpha-synuclein pathology: an evolving understanding of a heterogeneous disease.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2017

Pure autonomic failure: Predictors of conversion to clinical CNS involvement.

Neurology
2017

Pure autonomic failure without synucleinopathy.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2017

Pure autonomic failure versus prodromal dysautonomia in Parkinson’s disease: Insights from the bedside.

Movement disorders clinical practice
2017

Cardiovascular Safety of Droxidopa in Patients With Symptomatic Neurogenic Orthostatic Hypotension.

The American journal of cardiology
2017

Natural history of pure autonomic failure: A United States prospective cohort.

Annals of neurology
2017

The recommendations of a consensus panel for the screening, diagnosis, and treatment of neurogenic orthostatic hypotension and associated supine hypertension.

Journal of neurology
2017

The Pharmacology of Autonomic Failure: From Hypotension to Hypertension.

Pharmacological reviews
2017

Autoimmunity-associated autonomic failure with sympathetic denervation.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2016

Safety and Durability of Effect with Long-Term, Open-Label Droxidopa Treatment in Patients with Symptomatic Neurogenic Orthostatic Hypotension (NOH303).

Journal of Parkinson's disease
2017

A case series of REM sleep behavior disorder in pure autonomic failure.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2016

Long-term safety of droxidopa in patients with symptomatic neurogenic orthostatic hypotension.

Journal of the American Society of Hypertension : JASH
2016

Analysis of number needed to treat for droxidopa in patients with symptomatic neurogenic orthostatic hypotension.

BMC neurology
2017

Superficial siderosis associated with peripheral autonomic failure and tetraventricular hydrocephalus: a case report.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2016

Elevated cerebrospinal fluid ratios of cysteinyl-dopamine/3,4-dihydroxyphenylacetic acid in parkinsonian synucleinopathies.

Parkinsonism &amp; related disorders
2016

Meta-analysis of the safety and efficacy of droxidopa for neurogenic orthostatic hypotension.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2015

Congenital Insensitivity to Pain (HSNA type IV).

Pediatric neurology briefs
2016

(123)I-meta-iodobenzylguanidine (MIBG) cardiac scintigraphy in α-synucleinopathies.

Ageing research reviews
2016

Mineralocorticoid Receptor Activation Contributes to the Supine Hypertension of Autonomic Failure.

Hypertension (Dallas, Tex. : 1979)
2016

Skin nerve misfolded α-synuclein in pure autonomic failure and Parkinson disease.

Annals of neurology
2015

[Acute Sensory Neuropathies and Acute Autonomic Neuropathies].

Brain and nerve = Shinkei kenkyu no shinpo

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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. Pure autonomic failure: a natural history study of the Queen Square cohort.
    Brain : a journal of neurology· 2026· PMID 40397689mais citado
  2. Pure autonomic failure as an essential window into progression of synucleinopathies.
    Brain : a journal of neurology· 2026· PMID 41653225mais citado
  3. Differential patterns of central synucleinopathy and catecholaminergic abnormalities in Lewy body diseases and multiple system atrophy.
    Parkinsonism &amp; related disorders· 2026· PMID 41844500mais citado
  4. Emerging Role of Liquid Chromatography-Mass Spectrometry in the Clinical Laboratory Evaluation of Chronic Autonomic Failure.
    Journal of neurochemistry· 2026· PMID 41814889mais citado
  5. Association of Autonomic Dysfunction With Long COVID: Evaluation Using Quantitative Autonomic Testing.
    Journal of the American College of Cardiology· 2026· PMID 41369621mais citado
  6. CSF alpha-Synuclein Seed Amplification Assay results in routine clinically collected samples.
    J Parkinsons Dis· 2026· PMID 41944207recente
  7. Skin-Based α-Synuclein Deposits Detection Across the Prodromal Continuum of Synucleinopathies: Updated Evidence and Perspectives.
    Biomolecules· 2026· PMID 41897312recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:441(Orphanet)
  2. MONDO:0018608(MONDO)
  3. GARD:10428(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q896883(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

Falência autonômica pura
Compêndio · Raras BR

Falência autonômica pura

ORPHA:441 · MONDO:0018608
Prevalência
1-9 / 1 000 000
Herança
Not applicable
CID-10
G90.8 · Outros transtornos do sistema nervoso autônomo
CID-11
Ensaios
14 ativos
Início
Adult, Elderly
Prevalência
0.0 (Europe)
MedGen
UMLS
C0393911
EuropePMC
Wikidata
Papers 10a
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