Puesta al día sobre una enfermedad poco común | 10 NOV 19

Insuficiencia autónoma pura

Es una enfermedad neurodegenerativa del sistema nervioso autónomo que se caracteriza por hipotensión ortostática
Autor: Coon EA, Singer W, Low PA Mayo Clin Proc. 2019;94(10):2087-2098
INDICE:  1. Página 1 | 2. Referencias bibliográficas
Referencias bibliográficas

1. Bradbury S, Eggleston C. Postural hypotension: a report of three cases. Am Heart J. 1925;1(1):73-86.

2. Consensus statement on the definition of orthostatic hypotension, pure autonomic failure, and multiple system atrophy: the Consensus Committee of the American Autonomic Society and the American Academy of Neurology. Neurology. 1996; 46(5):1470.

3. Kaufmann H, Norcliffe-Kaufmann L, Palma JA, et al. Natural history of pure autonomic failure: a United States prospective cohort. Ann Neurol. 2017;81(2):287-297.

4. Singer W, Berini SE, Sandroni P, et al. Pure autonomic failure: predictors of conversion to clinical CNS involvement. Neurology. 2017; 88 (12):1129-1136.

5. Polinsky RJ, Kopin IJ, Ebert MH, Weise V. Pharmacologic distinction of different orthostatic hypotension syndromes. Neurology. 1981;31(1):1-7.

6. Shy GM, Drager GA. A neurological syndrome associated with orthostatic hypotension: a clinical-pathologic study. Arch Neurol. 1960;2:511-527.

7. Graham JG, Oppenheimer DR. Orthostatic hypotension and nicotine sensitivity in a case of multiple system atrophy. J Neurol Neurosurg Psychiatry. 1969; 32(1):28-34.

8. Gilman S, Low PA, Quinn N, et al. Consensus statement on the diagnosis of multiple system atrophy. J Auton Nerv Syst. 1998; 74(2-3):189-192.

9. Bannister R, Ardill L, Fentem P. Defective autonomic control of blood vessels in idiopathic orthostatic hypotension. Brain. 1967; 90(4):725-746.

10. Thomas JE, Schirger A. Neurologic manifestations in idiopathic orthostatic hypotension. Arch Neurol. 1963;8:204-208.

11. Peelaerts W, Bousset L, Van der Perren A, et al. a-Synuclein strains cause distinct synucleinopathies after local and systemic administration. Nature. 2015;522(7556):340-344.

12. Coon EA, Low PA. Pure autonomic failure without alphasynuclein pathology: an evolving understanding of a heterogeneous disease. Clin Auton Res. 2017; 27(2):67-68.

13. Dickson DW, Liu W, Hardy J, et al. Widespread alterations of alpha-synuclein in multiple system atrophy. Am J Pathol. 1999; 155(4):1241-1251.

14. Prusiner SB, Woerman AL, Mordes DA, et al. Evidence for asynuclein prions causing multiple system atrophy in humans with parkinsonism. Proc Natl Acad Sci U S A. 2015; 112(38): E5308-E5317.

15. Hague K, Lento P, Morgello S, Caro S, Kaufmann H. The distribution of Lewy bodies in pure autonomic failure: autopsy findings and review of the literature. Acta Neuropathol. 1997; 94(2): 192-196.

16. Arai K, Kato N, Kashiwado K, Hattori T. Pure autonomic failure in association with human alpha-synucleinopathy. Neurosci Lett. 2000;296(2-3):171-173.

17. Kontos HA, Richardson DW, Norvell JE. Norepinephrine depletion in idiopathic orthostatic hypotension. Ann Intern Med. 1975;82(3):336-341.

18. Bannister R, Crowe R, Eames R, Burnstock G. Adrenergic innervation in autonomic failure. Neurology. 1981; 31(12): 1501-1506.

19. Roessmann U, Van den Noort S, McFarland DE. Idiopathic orthostatic hypotension. Arch Neurol. 1971;24(6):503-510.

20. van Ingelghem E, van Zandijcke M, Lammens M. Pure autonomic failure: a new case with clinical, biochemical, and necropsy data. J Neurol Neurosurg Psychiatry. 1994; 57(6):745-747.

21. Kaufmann HC, Benarroch EE. Degenerative autonomic disorders (autonomic synucleinopathies). In: Low PA, Benarroch EE, eds. Clinical Autonomic Disorders. 3rd ed. Baltimore, MA: Lippincott Williams & Wilkins; 2008:287-306.

22. Shishido T, Ikemura M, Obi T, et al. a-Synuclein accumulation in skin nerve fibers revealed by skin biopsy in pure autonomic failure. Neurology. 2010;74(7):608-610.

23. Donadio V, Incensi A, Piccinini C, et al. Skin nerve misfolded asynuclein in pure autonomic failure and Parkinson disease. Ann Neurol. 2016;79(2):306-316.

24. Donadio V, Cortelli P, Elam M, et al. Autonomic innervation in multiple system atrophy and pure autonomic failure. J Neurol Neurosurg Psychiatry. 2010; 81(12):1327-1335.

25. Lee JM, Derkinderen P, Kordower JH, et al. The search for a peripheral biopsy indicator of a-synuclein pathology for Parkinson disease. J Neuropathol Exp Neurol. 2017; 76(1):2-15.

26. Isonaka R, Holmes C, Cook GA, Sullivan P, Sharabi Y, Goldstein DS. Pure autonomic failure without synucleinopathy. Clin Auton Res. 2017;27(2):97-101.

27. Goldstein DS, Eisenhofer G, Kopin IJ. Sources and significance of plasma levels of catechols and their metabolites in humans. J Pharmacol Exp Ther. 2003;305(3):800-811.

28. Goldstein DS, Holmes C, Imrich R. Clinical laboratory evaluation of autoimmune autonomic ganglionopathy: preliminary observations. Auton Neurosci. 2009; 146(1-2):18-21.

29. Yamamoto T, Polinsky RJ, Goldstein DS, Baucom CE, Kopin IJ. Plasma sulfoconjugated dopamine levels are normal in patients with autonomic failure. J Lab Clin Med. 1996; 128(5):488-491.

30. Goldstein DS, Holmes C, Sharabi Y. Cerebrospinal fluid biomarkers of central catecholamine deficiency in Parkinson’s disease and other synucleinopathies. Brain. 2012; 135(pt 6): 1900-1913.

31. Biaggioni I, Onrot J, Stewart CK, Robertson D. The potent pressor effect of phenylpropanolamine in patients with autonomic impairment. JAMA. 1987; 258(2):236-239.

32. Freeman R. Pure autonomic failure. In: Robertson D, Biaggiona I, eds. Disorders of the Autonomic Nervous System. Luxembourg: Harwood Academic Publishers; 1995:83-105.

33. Robertson D, Hollister AS, Carey EL, Tung CS, Goldberg MR, Robertson RM. Increased vascular beta2-adrenoceptor responsiveness in autonomic dysfunction. J Am Coll Cardiol. 1984; 3(3): 850-856.

34. Gupta D, Nair MD. Neurogenic orthostatic hypotension: chasing “the fall”. Postgrad Med J. 2008; 84(987):6-14.

35. Mathias CJ. Autonomic nervous system: clinical testing. In: Squire LR, ed. Encyclopedia of Neuroscience. Cambridge, MA: Academic Press; 2009:911-928.

36. Kaufmann H, Oribe E, Miller M, Knott P, Wiltshire-Clement M, Yahr MD. Hypotension-induced vasopressin release distinguishes between pure autonomic failure and multiple system atrophy with autonomic failure. Neurology. 1992; 42(3, pt 1): 590-593.

37. Goldstein DS, Holmes C, Cannon RO III, Eisenhofer G, Kopin IJ. Sympathetic cardioneuropathy in dysautonomias. N Engl J Med. 1997; 336(10):696-702.

38. Goldstein DS, Holmes CS, Dendi R, Bruce SR, Li ST. Orthostatic hypotension from sympathetic denervation in Parkinson’s disease. Neurology. 2002; 58(8):1247-1255.

39. Goldstein DS, Sewell L. Olfactory dysfunction in pure autonomic failure: implications for the pathogenesis of Lewy body diseases. Parkinsonism Relat Disord. 2009; 15(7):516-520.

40. Tipre DN, Goldstein DS. Cardiac and extracardiac sympathetic denervation in Parkinson’s disease with orthostatic hypotension and in pure autonomic failure. J Nucl Med. 2005; 46(11):1775-1781.

41. Goldstein DS. Sympathetic neuroimaging. Handb Clin Neurol. 2013; 117:365-370.

42. Braune S. The role of cardiac metaiodobenzylguanidine uptake in the differential diagnosis of parkinsonian syndromes. Clin Auton Res. 2001; 11(6):351-355.

43. Sawada H, Oeda T, Yamamoto K, et al. Diagnostic accuracy of cardiac metaiodobenzylguanidine scintigraphy in Parkinson disease. Eur J Neurol. 2009; 16(2):174-182.

44. Kara E, Kiely AP, Proukakis C, et al. A 6.4 Mb duplication of the a-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurol. 2014; 71(9):1162-1171.

45. Freeman R, Wieling W, Axelrod FB, et al. Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome. Clin Auton Res. 2011; 21(2):69-72.

46. Fanciulli A, Jordan J, Biaggioni I, et al. Consensus statement on the definition of neurogenic supine hypertension in cardiovascular autonomic failure by the American Autonomic Society (AAS) and the European Federation of Autonomic Societies (EFAS): endorsed by the European Academy of Neurology (EAN) and the European Society of Hypertension (ESH). Clin Auton Res. 2018; 28(4):355-362.

47. Norcliffe-Kaufmann L, Kaufmann H, Palma JA, et al. Orthostatic heart rate changes in patients with autonomic failure caused by neurodegenerative synucleinopathies. Ann Neurol. 2018; 83(3): 522-531.

48. Bleasdale-Barr KM, Mathias CJ. Neck and other muscle pains in autonomic failure: their association with orthostatic hypotension. J R Soc Med. 1998; 91(7):355-359.

49. Low PA, Opfer-Gehrking TL, McPhee BR, et al. Prospective evaluation of clinical characteristics of orthostatic hypotension. Mayo Clin Proc. 1995; 70(7):617-622.

50. Robertson D. The pathophysiology and diagnosis of orthostatic hypotension. Clin Auton Res. 2008; 18(suppl 1):2-7.

51. Fujimura J, Camilleri M, Low PA, Novak V, Novak P, Opfer- Gehrking TL. Effect of perturbations and a meal on superior mesenteric artery flow in patients with orthostatic hypotension. J Auton Nerv Syst. 1997; 67(1-2):15-23.

52. Wilcox CS, Aminoff MJ, Penn W. Basis of nocturnal polyuria in patients with autonomic failure. J Neurol Neurosurg Psychiatry. 1974;37(6):677-684.

53. Shannon J, Jordan J, Costa F, Robertson RM, Biaggioni I. The hypertension of autonomic failure and its treatment. Hypertension. 1997; 30(5):1062-1067.

54. Arnold AC, Okamoto LE, Gamboa A, et al. Mineralocorticoid receptor activation contributes to the supine hypertension of autonomic failure. Hypertension. 2016; 67(2):424-429.

55. Vagaonescu TD, Saadia D, Tuhrim S, Phillips RA, Kaufmann H. Hypertensive cardiovascular damage in patients with primary autonomic failure. Lancet. 2000; 355(9205):725-726.

56. Garland EM, Gamboa A, Okamoto L, et al. Renal impairment of pure autonomic failure. Hypertension. 2009; 54(5):1057-1061.

57. Struhal W, Lahrmann H, Mathias CJ. Incidence of cerebrovascular lesions in pure autonomic failure. Auton Neurosci. 2013; 179(1-2):159-162.

58. Mabuchi N, Hirayama M, Koike Y, et al. Progression and prognosis in pure autonomic failure (PAF): comparison with multiple system atrophy. J Neurol Neurosurg Psychiatry. 2005; 76(7): 947-952.

59. Yamanaka Y, Sakakibara R, Asahina M, et al. Chronic intestinal pseudo-obstruction as the initial feature of pure autonomic failure. J Neurol Neurosurg Psychiatry. 2006; 77(6):800.

60. Garland EM, Raj SR, Peltier AC, Robertson D, Biaggioni I. A cross-sectional study contrasting olfactory function in autonomic disorders. Neurology. 2011; 76(5):456-460.

61. Iranzo A, Tolosa E, Gelpi E, et al. Neurodegenerative disease status and post-mortem pathology in idiopathic rapid-eye movement sleep behaviour disorder: an observational cohort study. Lancet Neurol. 2013; 12(5):443-453.

62. Boeve BF, Silber MH, Ferman TJ, et al. Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder. Sleep Med. 2013; 14(8):754-762.

63. Heims HC, Critchley HD, Martin NH, Jager HR, Mathias CJ, Cipolotti L. Cognitive functioning in orthostatic hypotension due to pure autonomic failure. Clin Auton Res. 2006;16(2): 113-120.

64. Milazzo V, Maule S, Di Stefano C, et al. Cardiac organ damage and arterial stiffness in autonomic failure: comparison with essential hypertension. Hypertension. 2015; 66(6):1168-1175.

65. Kusumoto FM, Schoenfeld MH, et al. 2018 ACC/AHA/HRS guideline on the evaluation and management of patients with bradycardia and cardiac conduction delay: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. Heart Rhythm. 2018. https://doi.org/10.1016/j.hrthm.2018.10.037.

66. Low PA, Sletten DM. Laboratory evaluation of autonomic failure. In: Low PA, Benarroch EE, eds. Clinical Autonomic Disorders. 3rd ed. Baltimore, MA: Lippincott Williams & Wilkins; 2008:130-163.

67. Low PA. Composite autonomic scoring scale for laboratory quantification of generalized autonomic failure. Mayo Clin Proc. 1993; 68(8):748-752.

68. Golstein DS. Imaging studies in chronic autonomic disorders. In: Low PA, Benarroch EE, eds. Clinical Autonomic Disorders. 3rd ed. Baltimore, MA: Lippincott Williams & Wilkins; 2008:336-344.

69. Yoshida M, Fukumoto Y, Kuroda Y, Ohkoshi N. Sympathetic denervation of myocardium demonstrated by 123I-MIBG scintigraphy in pure progressive autonomic failure. Eur Neurol. 1997; 38(4):291-296.

70. Merola A, Espay AJ, Zibetti M, et al. Pure autonomic failure versus prodromal dysautonomia in Parkinson’s disease: insights from the bedside. Mov Disord Clin Pract. 2017;4(1):141-144.

71. Goldstein DS, Holmes C, Sharabi Y, Wu T. Survival in synucleinopathies: a prospective cohort study. Neurology. 2015; 85(18): 1554-1561.

72. Gibbons CH, Schmidt P, Biaggioni I, et al. The recommendations of a consensus panel for the screening, diagnosis, and treatment of neurogenic orthostatic hypotension and associated supine hypertension. J Neurol. 2017; 264(8): 1567-1582.

73. Wieling W, van Lieshout JJ, van Leeuwen AM. Physical manoeuvres that reduce postural hypotension in autonomic failure. Clin Auton Res. 1993; 3(1):57-65.

74. Singer W, Sandroni P, Opfer-Gehrking TL, et al. Pyridostigmine treatment trial in neurogenic orthostatic hypotension. Arch Neurol. 2006; 63(4):513-518.

75. Jordan J, Shannon JR, Pohar B, et al. Contrasting effects of vasodilators on blood pressure and sodium balance in the hypertension of autonomic failure. J Am Soc Nephrol. 1999; 10(1):35-42.

76. Garland EM, Hooper WB, Robertson D. Pure autonomic failure. Handb Clin Neurol. 2013;117: 243-257.

77. Hoeldtke RD, Horvath GG, Bryner KD, Hobbs GR. Treatment of orthostatic hypotension with midodrine and octreotide. J Clin Endocrinol Metab. 1998; 83(2):339-343.

78. Biaggioni I, Robertson D, Krantz S, Jones M, Haile V. The anemia of primary autonomic failure and its reversal with recombinant erythropoietin. Ann Intern Med. 1994; 121(3):181-186.

79. Shibao C, Okamoto L, Biaggioni I. Pharmacotherapy of autonomic failure. Pharmacol Ther. 2012;134(3): 279-286.

80. St Louis EK, Boeve BF. REM sleep behavior disorder: diagnosis, clinical implications, and future directions. Mayo Clin Proc. 2017; 92(11):1723-1736




Usted debe ingresar al sitio con su cuenta de usuario IntraMed para ver los comentarios de sus colegas o para expresar su opinión. Si ya tiene una cuenta IntraMed o desea registrase, ingrese aquí

Contenidos relacionados
Los editores le recomiendan continuar con las siguientes lecturas: