Stroke in Fabry disease. More than a simple stenosis;Accidente cerebro-vascular en la enfermedad de fabry algo mas que una simple estenosis

Medicina

Volumn 66, Issue 5, 2006, Pages 467-471

  Politei, Juan Manuel ^a  

^a HOSPITAL JUAN A FERNÁNDEZ   (Argentina)

Author keywords

Enzyme replacement therapy; Fabry disease; Stroke

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID;

ARTICLE; AUTONOMIC NERVOUS SYSTEM; BLOOD VESSEL OCCLUSION; BRAIN METABOLISM; CAUSE OF DEATH; CELLULAR DISTRIBUTION; CENTRAL NERVOUS SYSTEM; CEREBROVASCULAR ACCIDENT; DISEASE ASSOCIATION; ENZYME REPLACEMENT; EVIDENCE BASED MEDICINE; FABRY DISEASE; HEART FAILURE; HUMAN; HYPERCOAGULABILITY; KIDNEY FAILURE; LIPID STORAGE; PATHOPHYSIOLOGY; REGULATORY MECHANISM; VASCULAR ENDOTHELIUM;

BLOOD FLOW VELOCITY; BRAIN; CEREBROVASCULAR ACCIDENT; CONSTRICTION, PATHOLOGIC; DILATATION, PATHOLOGIC; ENDOTHELIUM, VASCULAR; FABRY DISEASE; GLYCOSPHINGOLIPIDS; HUMANS; THROMBOPHILIA;

EID: 33750991048     PISSN: 00257680     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic bases of Inherited Disease. 8th ed. New York: MacGraw-Hill; 2001: 3733-74.
2. Kint JA. Fabry's disease: alpha-galactosidase deficiency. Science 1970; 167: 1268-9.
3. MacDermot Kd, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001; 38: 750-60.
4. Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743-9.
5. Eng CM, Gurron N, Wilcox WR, et al. Safety and efficacy of recombinant human α-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001; 345: 9-16.
6. Anderson W. A case of angiokeratoma. Br J Dermat 1898; 1: 113-7.
7. Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagic a nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph 1898; 43: 187-200.
8. Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996; 40: 8-17.
9. Maisey DN, Cosh JA. Basilar artery aneurysm and Anderson-Fabry disease. J Neurol Neurosurg Psychiatry 1980; 43: 85-7.
10. De Groot WP. Angiokeratoma corporis diffusum Fabry. Dermatológica 1964; 128: 321-49.
11. Morgan SH, Rudge P, Smith SJM, et al. The neurological complications of Anderson-Fabry disease (α-galactosidase A deficiency)-investigation of symptomatic and presymptomatic patients. Q J Med 1990; 75: 491-504.
12. Dobrin PB. Mechanical propierties of arteries. Physiol Rev 1978; 58: 397-460.
13. Clark JM, Glaskov S. Transmural organization of the arterial media. The lamellar unit revisited. Arteriosclerosis 1985; 5: 19-34.
14. Leung DY, Glaskov S, Mathews MB. Cyclic stretching stimulates synthesis of matrix components by arterial smooth muscle cells in vitro. Science 1976; 191: 475-7.
15. Rodbard S. Negative feedback mechanisms in the architecture and function of the connective and cardiovascular tissues. Perspect Biol Med 1970; 13: 507-27.
16. Stehbens WE. Pathology of cerebral blood vessels. St Louis: Mosby, 1972: 60-2.
17. Vane JR, Anggard EE, Botting RM. Regulatory functions of the vascular endothelium. N Engl J Med. 1990; 323: 27-36.
18. Furchgott RF, Zawadzki JV. The obligatory role of endothelial cells in the relaxation of arterial smooth muscle by acetylcholine. Nature 1980; 288: 373-6.
19. Altarescu G, Moore DF, Pursley R, et al. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 2001; 32: 1559-62.
20. Stemper B, Hilz MJ. Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease. J Neurol 2003; 250: 970-6.
21. Moore DF, Scott LT, Galdwin MT, et al. Regional cerebral hiperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001: 104; 1506-12.
22. Moore DF, Herscovitch P, Schiffmann R. Selective arterial distribution of cerebral hyperperfusion in Fabry disease. J Neuroimaging 2001; 1: 303-7.
23. Moore DF, Ye F, Brennan ML, et al. Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging. 2004; 20: 674-83.
24. Moore DF, Altarescu G, Barker WC, Patronas NJ, Herscovitch P, Schiffmann R. White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 2003; 62: 231-40.
25. Ransom BR, Waxman SG, Fern R. Molecular pathophysiology of white matter anoxiv/ischemic injury, in: H. Barnett, JP Mohr, BM Stein, FM Yatsu (Eds.), Stroke, Churchill-Livingstone, Philadelphia, 1998, pp. 101-9.
26. Kahn P. Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain. J Neurol Neurosurg Psychiatry 1973; 36: 1053-62.
27. Moore DF, Altarescu G, Ling GSF, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002: 33; 525-31.
28. Hilz MJ, Kolodny EH, Brys M, Stemper B, Haendl T, Marthol H. Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol 2004: 251; 564-70.
29. Ursino M. Mechanisms of cerebral blood flow regulation. Crit Rev Biomed Eng 1998; 18: 255-88.
30. Utsumi K, Yamamoto N, Kase R, et al. High incidence of thrombosis in Fabry's disease. Intern Med 1997; 36: 327-9.
31. Scalia R, Appel JZ 3rd, Lefer AM. Leukocyte-endothelium interaction during the early stages of hypercholesterolemia in the rabbit: role of P-selectin, ICAM-1, and VCAM-1. Arterioscler Thromb Vasc Biol 1998; 18: 1093-100.
32. DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000; 47: 229-33.
33. Stern DM, Kaiser E, Nawroth PP. Regulation of the coagulation system by vascular endothelial cells. Haemostasis. 1988; 18: 202-14.
34. Arai T, Bhunia AK, Chatterjee S, Bulkley GB. Lactosylceramide stimulates human neutrophils to upregulate Mac-1, adhere to endothelium, and generate reactive oxygen metabolites in vitro. Circ Res 1998; 82: 540-7.
35. Marx N, Neumann FJ, Zohlnhofer D, Dickfeld T, Fischer A, Heimerl S. Enhancement of monocyte procoagulant activity by adhesion on vascular smooth muscle cells and intercellular adhesion molecule-1-transfected Chinese hamster ovary cells. Circulation 1998; 98: 906-11.
36. Demuth K, Germain DP. Endothelial markers and homocysteine in patients with classic Fabry disease. Acta Paediatr Suppl 2002; 91: 57-61.
37. Parnetti L, Bottiglieri T, Lowenthal D. Role of homocysteine in age-related vascular and non-vascular diseases. Aging (Milano). 1997; 9: 241-57.
38. Chenevard R, Hurlimann D, Widmer U, Ruschitzka F, Noll G. Effect of enzyme replacement therapy on intima media thickness and endothelial function in fabry disease. JACC 2004, (suppl 2); 43: 470.