{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T18:53:22Z","timestamp":1774378402396,"version":"3.50.1"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,9,1]]},"DOI":"10.1093\/brain\/awh546","type":"journal-article","created":{"date-parts":[[2005,6,10]],"date-time":"2005-06-10T00:33:42Z","timestamp":1118363622000},"page":"2078-2083","source":"Crossref","is-referenced-by-count":45,"title":["Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the \u03b1-galactosidase A gene"],"prefix":"10.1093","volume":"128","author":[{"given":"Ferenc","family":"Garzuly","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00e1szl\u00f3","family":"Mar\u00f3di","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melinda","family":"Erd\u00f6s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e1nos","family":"Grubits","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zita","family":"Varga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen","family":"Gelpi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9la","family":"Rohonyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1ria","family":"M\u00e1zl\u00f3","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anik\u00f3","family":"Moln\u00e1r","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herbert","family":"Budka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"key\n\t\t\t\t20171011165224_B1","doi-asserted-by":"crossref","unstructured":"Anderson W. A case of angiokeratoma. Br J Dermatol1898; 10: 113\u20137.","DOI":"10.1111\/j.1365-2133.1898.tb16317.x"},{"key":"key\n\t\t\t\t20171011165224_B2","doi-asserted-by":"crossref","unstructured":"Bird TD, Lagunoff D. Neurological manifestations of Fabry disease in female carriers. Ann Neurol1978; 4: 537\u201340.","DOI":"10.1002\/ana.410040610"},{"key":"key\n\t\t\t\t20171011165224_B3","doi-asserted-by":"crossref","unstructured":"Boeri R, Passerini A. The megadolichobasilar anomaly. J Neurol Sci1964; 1: 475\u201384.","DOI":"10.1016\/0022-510X(64)90116-9"},{"key":"key\n\t\t\t\t20171011165224_B4","doi-asserted-by":"crossref","unstructured":"Brady RO, Gal AE, Bradley R, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med1967; 21: 1163\u20137.","DOI":"10.1056\/NEJM196705252762101"},{"key":"key\n\t\t\t\t20171011165224_B5","unstructured":"Brittig F, Garzuly F, M\u00e1zl\u00f3 M, Hadarits F. Fabry-k\u00f3r arteria basilaris thrombosissal. [In Hungarian]. Morphol Igazsagugyi Orv Sz1986; 26: 15\u201324."},{"key":"key\n\t\t\t\t20171011165224_B6","unstructured":"Croisile B, Deruty R, Pialat J, Chazot G, Jourdan C. Aneurysm of the internal carotid artery and cervical mega-dolicho-arteries in Marfan syndrome. [In French]. Neurochirurgie1988; 34: 342\u20137."},{"key":"key\n\t\t\t\t20171011165224_B7","doi-asserted-by":"crossref","unstructured":"Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology1998; 50: 1746\u20139.","DOI":"10.1212\/WNL.50.6.1746"},{"key":"key\n\t\t\t\t20171011165224_B8","unstructured":"D'Andrea F, Maiuri F, Gangemi M, Iaconetta G. Megadolichobasilar anomaly. Clinical and diagnostic considerations on 30 cases. Acta Neurol (Napoli)1992; 14: 611\u20139."},{"key":"key\n\t\t\t\t20171011165224_B9","doi-asserted-by":"crossref","unstructured":"DeGraba T, Azhar S, Dignat-George F, Brown E, Boutiere B, Altarescu G, McCarron R, Schiffmann R. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol2000; 47: 229\u201333.","DOI":"10.1002\/1531-8249(200002)47:2<229::AID-ANA13>3.0.CO;2-T"},{"key":"key\n\t\t\t\t20171011165224_B10","doi-asserted-by":"crossref","unstructured":"Demuth K, Germain DP. Endothelial markers and homocysteine in patients with classic Fabry disease. Acta Paediatr Suppl2002; 91: 57\u201361.","DOI":"10.1111\/j.1651-2227.2002.tb03112.x"},{"key":"key\n\t\t\t\t20171011165224_B11","doi-asserted-by":"crossref","unstructured":"Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica noduclaris (Purpura hemorrhagica Hebrae). Arch Dermat Syph1898; 43: 187\u2013200.","DOI":"10.1007\/BF01986897"},{"key":"key\n\t\t\t\t20171011165224_B12","doi-asserted-by":"crossref","unstructured":"Grewal RP. Stroke in Fabry's disease. J Neurol1994; 241: 153\u20136.","DOI":"10.1007\/BF00868342"},{"key":"key\n\t\t\t\t20171011165224_B13","doi-asserted-by":"crossref","unstructured":"Heged\u00fcs K. Ectasia of the basilar artery with special reference to possible pathogenesis. Surg Neurol1985; 24: 463\u20139.","DOI":"10.1016\/0090-3019(85)90309-X"},{"key":"key\n\t\t\t\t20171011165224_B14","doi-asserted-by":"crossref","unstructured":"Herpers M, Lodder J, Janevski B, van der Lugt PJ. The symptomatology of megadolicho basilar artery. Clin Neurol Neurosurg1983; 85: 203\u201312.","DOI":"10.1016\/0303-8467(83)90070-7"},{"key":"key\n\t\t\t\t20171011165224_B15","doi-asserted-by":"crossref","unstructured":"Ioannou YA, Bishop DF, Desnick RJ. Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion. J Cell Biol1992; 119: 1137\u201350.","DOI":"10.1083\/jcb.119.5.1137"},{"key":"key\n\t\t\t\t20171011165224_B16","doi-asserted-by":"crossref","unstructured":"Maisey DN, Cosh JA. Basilar artery aneurysm and Anderson\u2013Fabry disease. J Neurol Neurosurg Psychiat1980; 43: 85\u20137.","DOI":"10.1136\/jnnp.43.1.85"},{"key":"key\n\t\t\t\t20171011165224_B17","doi-asserted-by":"crossref","unstructured":"Mayes JS, Scheerer JB, Sifers RN, Donaldson ML. Differential assay for lysosomal \u03b1-galactosidases in human tissues and its application to Fabry's disease. Clin Chim Acta1981; 112: 247\u201351.","DOI":"10.1016\/0009-8981(81)90384-3"},{"key":"key\n\t\t\t\t20171011165224_B18","doi-asserted-by":"crossref","unstructured":"Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol1996; 40: 8\u201317.","DOI":"10.1002\/ana.410400105"},{"key":"key\n\t\t\t\t20171011165224_B19","doi-asserted-by":"crossref","unstructured":"Moore DF, Herscovitch P, Schiffmann R. Selective arterial distribution of cerebral hyperperfusion in Fabry disease. J Neuroimaging2001; 11: 303\u20137.","DOI":"10.1111\/j.1552-6569.2001.tb00051.x"},{"key":"key\n\t\t\t\t20171011165224_B20","doi-asserted-by":"crossref","unstructured":"Moore DF, Scott LT, Gladwin MT, Altarescu G, Kaneski C, Suzuki K, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation2001; 104: 1506\u201312.","DOI":"10.1161\/hc3801.096352"},{"key":"key\n\t\t\t\t20171011165224_B21","doi-asserted-by":"crossref","unstructured":"Moore DF, Altarescu G, Herscovitch P, Schiffmann R. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol2002; 18: 4.","DOI":"10.1186\/1471-2377-2-4"},{"key":"key\n\t\t\t\t20171011165224_B22","doi-asserted-by":"crossref","unstructured":"Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke2002; 33: 525\u201331.","DOI":"10.1161\/hs0202.102601"},{"key":"key\n\t\t\t\t20171011165224_B23","doi-asserted-by":"crossref","unstructured":"Otterstedde CR, Tischendorf M, Reisser C. Megadolichobasilar artery as the etiology of sensorineural deafness in differential sudden deafness diagnosis. HNO1999; 47: 494\u20136.","DOI":"10.1007\/s001060050411"},{"key":"key\n\t\t\t\t20171011165224_B24","doi-asserted-by":"crossref","unstructured":"Pastores GM, Thadhani R. Enzyme-replacement therapy for Anderson\u2013Fabry disease. Lancet2001; 358: 601\u20133.","DOI":"10.1016\/S0140-6736(01)05816-0"},{"key":"key\n\t\t\t\t20171011165224_B25","doi-asserted-by":"crossref","unstructured":"Pompen AWM, Ruiter M, Wyers HJG. Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal diseases; two autopsy reports. Acta Med Scand1947, 128: 234\u201355.","DOI":"10.1111\/j.0954-6820.1947.tb06596.x"},{"key":"key\n\t\t\t\t20171011165224_B26","doi-asserted-by":"crossref","unstructured":"Schievink WI, Parisi JE, Piepgras DG, Michels VV. Intracranial aneurysms in Marfan's syndrome: an autopsy study. Neurosurgery1997; 41: 866\u201370.","DOI":"10.1097\/00006123-199710000-00019"},{"key":"key\n\t\t\t\t20171011165224_B27","unstructured":"Sorensen SA. Genetic aspects of Fabry disease. In: European Symposium on Fabry Disease. Athens 8\u20139 Nov. 2002. Abstracts of plenary lectures; 2."},{"key":"key\n\t\t\t\t20171011165224_B28","doi-asserted-by":"crossref","unstructured":"Sweeley C, Klionsky B. Fabry's disease: classification as a sphyngolipidosis and partial characterisation of a novel glycolipid. J Biol Chem1963; 238: 3148\u201350.","DOI":"10.1016\/S0021-9258(18)51888-3"},{"key":"key\n\t\t\t\t20171011165224_B29","doi-asserted-by":"crossref","unstructured":"Wendrich K, Whybra C, Ries M, Gal A, Beck M. Neurological manifestation of Fabry disease in females. Contrib Nephrol2001; 136: 241\u20134.","DOI":"10.1159\/000060195"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/128\/9\/2078\/1044585\/awh546.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,11]],"date-time":"2021-07-11T14:31:35Z","timestamp":1626013895000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/brain\/article\/128\/9\/2078\/365931\/Megadolichobasilar-anomaly-with-thrombosis-in-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6,9]]},"references-count":29,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2005,6,9]]},"published-print":{"date-parts":[[2005,9,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awh546","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published-other":{"date-parts":[[2005,9]]},"published":{"date-parts":[[2005,6,9]]}}}