Hereditary and non-hereditary microangiopathies in the young. An up-date

Journal of the Neurological Sciences

Volumn 299, Issue 1-2, 2010, Pages 81-85

  Ringelstein, E Bernd ^a   Kleffner, Ilka ^a   Dittrich, Ralf ^a   Kuhlenbäumer, Gregor ^b   Ritter, Martin A ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

Author keywords

AD RVLC; CADASIL; CARASIL; Cerebral microangiopathy; Cerebral small vessel disease; COL4A1; FABRY; HEMID; Hereditary small vessel disease; MELAS; PADMAL; Posterior reversible encephalopathy; Susac's syndrome; SVBD

Indexed keywords

ACETYLSALICYLIC ACID; ANTICONVULSIVE AGENT; ANTIDEPRESSANT AGENT; ARGININE; CORTISONE; CYCLOPHOSPHAMIDE; IMMUNOGLOBULIN; METHOTREXATE; RITUXIMAB;

ANATOMICAL VARIATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT RETINAL VASCULOPATHY CEREBRAL LEUKODYSTROPHY; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CADASIL; CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCT AND LEUKOENCEPHALOPATHY; DIAGNOSTIC ACCURACY; FABRY DISEASE; GAIT DISORDER; HUMAN; LEUKODYSTROPHY; MELAS SYNDROME; MULTIINFARCT DEMENTIA; PATHOPHYSIOLOGY; PONTINE AUTOSOMAL DOMINANT MICROANGIOPATHY AND LEUKOENCEPHALOPATHY; PRIORITY JOURNAL; RECURRENT DISEASE; SUSAC SYNDROME; WHITE MATTER;

ADULT; BRAIN; CEREBROVASCULAR DISORDERS; HUMANS;

EID: 78649520555     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.08.037     Document Type: Article

References (46)

1. G. Telman, E. Kouperberg, E. Sprecher, and D. Yarnitsky Distribution of etiologies in patients above and below age 45 with first-ever ischemic stroke Acta Neurol Scand 117 2008 311 316
2. L.H. Calabrese, A.J. Furlan, L.A. Gragg, and T.J. Ropos Primary angiitis of the central nervous system: diagnostic criteria and clinical approach Cleve Clin J Med 59 1992 293 306
3. C. Salvarani, R.D. Brown Jr, K.T. Calamia, T.J. Christianson, S.D. Weigand, D.V. Miller, C. Giannini, J.F. Meschia, J. Huston 3rd, and G.G. Hunder Primary central nervous system vasculitis: analysis of 101 patients Ann Neurol 62 2007 442 451
4. S.V. Marinkovic, M.M. Milisavljevic, M.S. Kovacevic, and Z.D. Stevic Perforating branches of the middle cerebral artery. Microanatomy and clinical significance of their intracerebral segments Stroke 16 1985 1022 1029
5. M. Deschauer, T. Wieser, S. Neudecker, A. Lindner, and S. Zierz Mitochondrial 3243 A→G mutation (MELAS mutation) associated with painful muscle stiffness Neuromuscul Disord 9 1999 305 307
6. J. Matsumoto, J.L. Saver, K.C. Brennan, and J.M. Ringman Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS) Rev Neurol Dis 2 2005 30 34
7. Y. Koga, Y. Akita, N. Junko, S. Yatsuga, N. Povalko, R. Fukiyama, M. Ishii, and T. Matsuishi Endothelial dysfunction in MELAS improved by l-arginine supplementation Neurology 66 2006 1766 1769
8. E. Tournier-Lasserve, A. Joutel, J. Melki, J. Weissenbach, G.M. Lathrop, and H. Chabriat Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12 Nat Genet 3 1993 256 259
9. H. Chabriat, A. Joutel, K. Vahedi, M.T. Iba-Zizen, E. Tournier-Lasserve, and M.G. Bousser CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy J Mal Vasc 21 1996 277 282
10. H. Chabriat, A. Joutel, M. Dichgans, E. Tournier-Lasserve, and M.G. Bousser Cadasil Lancet Neurol 8 2009 643 653
11. J. Jen, A.H. Cohen, Q. Yue, J.T. Stout, H.V. Vinters, and S. Nelson Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) Neurology 49 1997 1322 1330
12. A. Richards, A.M. van den Maagdenberg, J.C. Jen, D. Kavanagh, P. Bertram, and D. Spitzer C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy Nat Genet 39 2007 1068 1070
13. R. Schiffmann, J.B. Kopp, H.A. Austin 3rd, S. Sabnis, D.F. Moore, and T. Weibel Enzyme replacement therapy in Fabry disease: a randomized controlled trial Jama 285 2001 2743 2749
14. M. Banikazemi, J. Bultas, S. Waldek, W.R. Wilcox, C.B. Whitley, and M. McDonald Fabry Disease Clinical Trial Study Group Agalsidase-beta therapy for advanced Fabry disease: a randomized trial Ann Intern Med 146 2007 77 86
15. Y.A. Zarate, and R.J. Hopkin Fabry's disease Lancet 372 2008 1427 1435
16. R.M. Schaefer, A. Tylki-Szymańska, and M.J. Hilz Enzyme replacement therapy for Fabry disease: a systematic review of available evidence Drugs 69 2009 2179 2205
17. P. Sourander, and J. Walinder Hereditary multi-infarct dementia Lancet 1 1977 1015
18. W.C. Low, M. Junna, A. Börjesson-Hanson, C.M. Morris, T.H. Moss, and D.L. Stevens Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL Brain 130 2007 357 367
19. W.W. Zhang, K.C. Ma, O. Andersen, P. Sourander, P.O. Tollesson, and Y. Olsson The microvascular changes in cases of hereditary multi-infarct disease of the brain Acta Neuropathol 87 1994 317 324
20. C. Hagel, C. Groden, R. Niemeyer, D. Stavrou, and H.J. Colmant Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL Acta Neuropathol 108 2004 231 240
21. X.Q. Ding, C. Hagel, E.B. Ringelstein, S. Buchheit, H. Zeumer, and G. Kuhlenbäumer MRI Features of Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy (PADMAL) J Neuroimaging 20 2010 134 140
22. G. Breedveld, I.F. de Coo, M.H. Lequin, W.F. Arts, P. Heutink, and D.B. Gould Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly J Med Genet 43 2006 490 495
23. K. Vahedi Hereditary infantile hemiparesis, retinal arteriolar tortuousity, and leukoencephalopathy Neurology 60 2003 57 63
24. K. Vahedi, M. Boukobza, P. Massin, D.B. Gould, E. Tournier-Lasserve, and M.G. Bousser Clinical and brain MRI follow-up study of a family with COL4A1 mutation Neurology 69 2007 1564 1568
25. L.S. De Vries, C. Koopman, F. Groenendaal, M. Van Schooneveld, F.W. Verheijen, and E. Verbeek COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage Ann Neurol 65 2009 12 18
26. D.B. Gould, F.C. Phalan, S.E. van Mil, J.P. Sundberg, K. Vahedi, and P. Massin Role of COL4A1 in small-vessel disease and hemorrhagic stroke N Engl J Med 14 2006 1489 1496
27. I. Sibon, I. Coupry, P. Menegon, J.P. Bouchet, P. Gorry, and I. Burgelin COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke Ann Neurol 62 2007 177 184
28. S. Yanagawa, N. Ito, K. Arima, and S. Ikeda Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Neurology 58 2002 817 820
29. K. Arima, S. Yanagawa, N. Ito, and S. Ikeda Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome) Neuropathology 23 2003 327 334
30. K. Hara, A. Shiga, T. Fukutake, H. Nozaki, A. Miyashita, and A. Yokoseki Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease N Engl J Med 360 2009 1729 1739
31. T. Oide, H. Nakayama, S. Yanagawa, N. Ito, S. Ikeda, and K. Arima Extensive loss of arterial medial smooth muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) Neuropathology 28 2008 132 142
32. D.M. Zheng, F.F. Xu, Y. Gao, H. Zhang, S.C. Han, and G.R. Bi A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): clinical and radiological features J Clin Neurosci 16 2009 847 849
33. S. Verreault, A. Joutel, F. Riant, G. Neves, M. Rui Silva, and J. Maciazek A novel hereditary small vessel disease of the brain Ann Neurol 59 2006 353 357
34. J. Hinchey, C. Chaves, B. Appignani, J. Breen, L. Pao, and A. Wang A reversible posterior leukoencephalopathy syndrome N Engl J Med 334 1996 494 500
35. R.B. Schwartz A reversible posterior leukoencephalopathy syndrome N Engl J Med 334 1996 1743
36. B.W. Schwaighofer, J.R. Hesselink, and M.E. Healy MR demonstration of reversible brain abnormalities in eclampsia J Comput Assist Tomogr 13 1989 310 312
37. S. Koch, A. Rabinstein, S. Falcone, and A. Forteza Diffusion-weighted imaging shows cytotoxic and vasogenic edema in eclampsia AJNR Am J Neuroradiol 22 2001 1068 1070
38. P.E. Marik Hypertensive disorders of pregnancy Postgrad Med 121 2009 69 76
39. V.H. Lee, E.F. Wijdicks, E.M. Manno, and A.A. Rabinstein Clinical spectrum of reversible posterior leukoencephalopathy syndrome Arch Neurol 65 2008 205 210
40. L. Min, J. Zwerling, L.C. Ocava, I.H. Chen, and C. Putterman Reversible posterior leukoencephalopathy in connective tissue diseases Semin Arthritis Rheum 35 2006 388 395
41. V.L. Stott, M.A. Hurrell, and T.J. Anderson Reversible posterior leukoencephalopathy syndrome: a misnomer reviewed Intern Med J 35 2005 83 90
42. C. Tungkasaereerak, and K. Phanthumchinda Reversible posterior leukoencephalopathy syndrome: a retrospective study in King Chulalongkorn Memorial Hospital J Med Assoc Thai 91 2008 427 432
43. J.O. Susac, J.M. Hardman, and J.B. Selhorst Microangiopathy of the brain and retina Neurology 29 1979 313 316
44. R.M. Rennebohm, and J.O. Susac Treatment of Susac's syndrome J Neurol Sci 257 2007 215 220
45. I. Kleffner, M. Deppe, S. Mohammadi, H. Schiffbauer, N. Stupp, H. Lohmann, and P. Young Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome Neurology 70 2008 1867 1869
46. J.O. Susac, F.R. Murtagh, R.A. Egan, J.R. Berger, R. Bakshi, and N. Lincoff MRI findings in Susac's syndrome Neurology 61 2003 1783 1787