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Pure autonomic failure

MedGen UID:
98293
•Concept ID:
C0393911
•
Disease or Syndrome
Synonyms: Bradbury-Eggleston syndrome; Idiopathic orthostatic hypotension (a symptom); Orthostatic hypotension (a symptom)
SNOMED CT: Bradbury-Eggleston syndrome (84438001); Pure autonomic failure (84438001); Autonomic failure (84438001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018608
OMIM®: 146500
Orphanet: ORPHA441

Definition

Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension. [from ORDO]

Professional guidelines

PubMed

Pharmacologic treatment of orthostatic hypotension.
Park JW, Okamoto LE, Shibao CA, Biaggioni I
Auton Neurosci 2020 Dec;229:102721. Epub 2020 Aug 28 doi: 10.1016/j.autneu.2020.102721. PMID: 32979782Free PMC Article
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788
Autonomic dysfunction: Diagnosis and management.
Rafanelli M, Walsh K, Hamdan MH, Buyan-Dent L
Handb Clin Neurol 2019;167:123-137. doi: 10.1016/B978-0-12-804766-8.00008-X. PMID: 31753129

Recent clinical studies

Etiology

Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies.
Gibbons CH, Levine T, Adler C, Bellaire B, Wang N, Stohl J, Agarwal P, Aldridge GM, Barboi A, Evidente VGH, Galasko D, Geschwind MD, Gonzalez-Duarte A, Gil R, Gudesblatt M, Isaacson SH, Kaufmann H, Khemani P, Kumar R, Lamotte G, Liu AJ, McFarland NR, Miglis M, Reynolds A, Sahagian GA, Saint-Hillaire MH, Schwartzbard JB, Singer W, Soileau MJ, Vernino S, Yerstein O, Freeman R
JAMA 2024 Apr 16;331(15):1298-1306. doi: 10.1001/jama.2024.0792. PMID: 38506839Free PMC Article
Synucleinopathies.
Lamotte G, Singer W
Handb Clin Neurol 2023;196:175-202. doi: 10.1016/B978-0-323-98817-9.00032-6. PMID: 37620069
Seed amplification assay for the detection of pathologic alpha-synuclein aggregates in cerebrospinal fluid.
Concha-Marambio L, Pritzkow S, Shahnawaz M, Farris CM, Soto C
Nat Protoc 2023 Apr;18(4):1179-1196. Epub 2023 Jan 18 doi: 10.1038/s41596-022-00787-3. PMID: 36653527Free PMC Article
Dysautonomia: A Forgotten Condition - Part 1.
Rocha EA, Mehta N, Távora-Mehta MZP, Roncari CF, Cidrão AAL, Elias Neto J
Arq Bras Cardiol 2021 Apr;116(4):814-835. doi: 10.36660/abc.20200420. PMID: 33886735Free PMC Article
Synucleinopathies.
Coon EA, Singer W
Continuum (Minneap Minn) 2020 Feb;26(1):72-92. doi: 10.1212/CON.0000000000000819. PMID: 31996623Free PMC Article

Diagnosis

Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788
Autonomic dysfunction: Diagnosis and management.
Rafanelli M, Walsh K, Hamdan MH, Buyan-Dent L
Handb Clin Neurol 2019;167:123-137. doi: 10.1016/B978-0-12-804766-8.00008-X. PMID: 31753129
Pure Autonomic Failure.
Coon EA, Singer W, Low PA
Mayo Clin Proc 2019 Oct;94(10):2087-2098. Epub 2019 Sep 9 doi: 10.1016/j.mayocp.2019.03.009. PMID: 31515103Free PMC Article
Pure autonomic failure.
Kabir MA, Chelimsky TC
Handb Clin Neurol 2019;161:413-422. doi: 10.1016/B978-0-444-64142-7.00064-3. PMID: 31307617
Orthostatic Hypotension: JACC State-of-the-Art Review.
Freeman R, Abuzinadah AR, Gibbons C, Jones P, Miglis MG, Sinn DI
J Am Coll Cardiol 2018 Sep 11;72(11):1294-1309. doi: 10.1016/j.jacc.2018.05.079. PMID: 30190008

Therapy

An update on multiple system atrophy.
Stankovic I, Kuijpers M, Kaufmann H
Curr Opin Neurol 2024 Aug 1;37(4):400-408. Epub 2024 Jun 3 doi: 10.1097/WCO.0000000000001285. PMID: 38828714Free PMC Article
Synuclein-One study: skin biopsy detection of phosphorylated α-synuclein for diagnosis of synucleinopathies.
Gibbons CH, Freeman R, Bellaire B, Adler CH, Moore D, Levine T
Biomark Med 2022 May;16(7):499-509. Epub 2022 Mar 11 doi: 10.2217/bmm-2021-0646. PMID: 35272481Free PMC Article
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788
Vagolysis.
Hutchinson CD, Jardine DL, Hurrell M
Age Ageing 2008 Sep;37(5):602-4. Epub 2008 Jun 12 doi: 10.1093/ageing/afn105. PMID: 18556705
Treatment of orthostatic hypotension.
Freeman R
Semin Neurol 2003 Dec;23(4):435-42. doi: 10.1055/s-2004-817727. PMID: 15088264

Prognosis

Dysautonomia: A Forgotten Condition - Part 1.
Rocha EA, Mehta N, Távora-Mehta MZP, Roncari CF, Cidrão AAL, Elias Neto J
Arq Bras Cardiol 2021 Apr;116(4):814-835. doi: 10.36660/abc.20200420. PMID: 33886735Free PMC Article
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788
Pure Autonomic Failure.
Coon EA, Singer W, Low PA
Mayo Clin Proc 2019 Oct;94(10):2087-2098. Epub 2019 Sep 9 doi: 10.1016/j.mayocp.2019.03.009. PMID: 31515103Free PMC Article
Pure Autonomic Failure.
Thaisetthawatkul P
Curr Neurol Neurosci Rep 2016 Aug;16(8):74. doi: 10.1007/s11910-016-0673-2. PMID: 27338613
Pure autonomic failure.
Garland EM, Hooper WB, Robertson D
Handb Clin Neurol 2013;117:243-57. doi: 10.1016/B978-0-444-53491-0.00020-1. PMID: 24095130

Clinical prediction guides

An update on multiple system atrophy.
Stankovic I, Kuijpers M, Kaufmann H
Curr Opin Neurol 2024 Aug 1;37(4):400-408. Epub 2024 Jun 3 doi: 10.1097/WCO.0000000000001285. PMID: 38828714Free PMC Article
An overview on pure autonomic failure.
Pavy-Le Traon A, Foubert-Samier A, Fabbri M
Rev Neurol (Paris) 2024 Jan-Feb;180(1-2):94-100. Epub 2023 Dec 20 doi: 10.1016/j.neurol.2023.11.003. PMID: 38129276
Pure autonomic failure and the differential diagnosis of autonomic peripheral neuropathies.
González-Duarte A, Varma-Doyle A, Freeman R
Curr Opin Neurol 2021 Oct 1;34(5):675-682. doi: 10.1097/WCO.0000000000000985. PMID: 34392300
Predicting phenoconversion in pure autonomic failure.
Coon EA, Mandrekar JN, Berini SE, Benarroch EE, Sandroni P, Low PA, Singer W
Neurology 2020 Aug 18;95(7):e889-e897. Epub 2020 Jun 16 doi: 10.1212/WNL.0000000000010002. PMID: 32546656Free PMC Article
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788

Recent systematic reviews

Biofluid Detection of Pathological α-Synuclein in the Prodromal Phase of Synucleinopathies.
Kluge A, Iranzo A
J Parkinsons Dis 2024;14(s2):S323-S331. doi: 10.3233/JPD-230429. PMID: 38995801Free PMC Article
Hemodynamic Effects of the Osmopressor Response: A Systematic Review and Meta-Analysis.
Oyewunmi OA, Lei LY, Laurin JKH, Morillo CA, Sheldon RS, Raj SR
J Am Heart Assoc 2023 Nov 7;12(21):e029645. Epub 2023 Nov 6 doi: 10.1161/JAHA.122.029645. PMID: 37929748Free PMC Article
Post-Traumatic Stress Disorder and Risk of Degenerative Synucleinopathies: Systematic Review and Meta-Analysis.
Jones MB, Gates R, Gibson L, Broadway D, Bhatti G, Tea J, Guerra A, Li R, Varman B, Elammari M, Jorge RE, Marsh L
Am J Geriatr Psychiatry 2023 Nov;31(11):978-990. Epub 2023 May 3 doi: 10.1016/j.jagp.2023.04.016. PMID: 37236879Free PMC Article
The potential prognostic role of cardiovascular autonomic failure in α-synucleinopathies.
Fanciulli A, Strano S, Colosimo C, Caltagirone C, Spalletta G, Pontieri FE
Eur J Neurol 2013 Feb;20(2):231-5. Epub 2012 Jul 27 doi: 10.1111/j.1468-1331.2012.03819.x. PMID: 22834919

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