Manifestations neurologiques de la maladie de Fabry

Gérard Besson; Pierre Clavelou; Dominique P. Germain

doi:10.1051/medsci/20052111s26

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Volume 21 (Décembre 2005) Numéro spécial

Med Sci (Paris), 21 (2005) 26-29

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Issue		Med Sci (Paris) Volume 21, Décembre 2005 Métabolisme glucidolipidique et risque cardiovasculaire: Nouvelle approches


Page(s)		26 - 29
Section		M/S revues
DOI		https://doi.org/10.1051/medsci/20052111s26
Published online		15 November 2005

Hornbostel H. Das angiokeratoma corporis diffusum universale mit kardio-vaso-renalem symptomenkomplex als neuartige thesaurismoseform. Helvetica Medica Acta 1952; 19 : 388–96. [Google Scholar]
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease : clinical manifestations and impact of the disease in a cohort of 98 hemizygous males.J Med Genet 2001; 38 : 750–60. [Google Scholar]
Whybra C, Kampmann C, Willers I, et al. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001; 24 : 715–24. [Google Scholar]
Wilcox W, Banikazemi M, Guffon N, et al. Long-term safety and efficacity of enzyme replacement therapy Fabry disease. Am J Hum Genet 2004; 75 : 65–74. [Google Scholar]
Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest 2004; 34 : 236–42. [Google Scholar]
Valeriani M, Mariotti P, Le Pera D, et al. Functional assessment of A delta and C fibers in patients with Fabry’s disease. Muscle Nerve 2004; 30 : 708–13. [Google Scholar]
Beck M, Whybra C, Wendrick K, et al. Fabry disease in children and adolescent. Contrib Nephrol 2001; 136 : 251–5. [Google Scholar]
Filling-Katz MR, Merrick HF, Fink JK, et al. Carbamazepine in Fabry’s disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction. Neurology 1989; 39 : 598–600. [Google Scholar]
Hilz MJ, Brys M, Marthol H, et al. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 2004; 62 : 1066–72. [Google Scholar]
Luciano CA, Russell JW, Banerjee TK, et al. Physiological characterization of neuropathy in Fabry’s disease. Muscle Nerve 2002; 26 : 622–9. [Google Scholar]
Gomes I, Nora DB, Becker J, et al. Nerve conduction studies, electromyography and sympathetic skin response in Fabry’s disease. J Neurol Sci 2003; 214 : 21–5. [Google Scholar]
Lacomis D, Roeske-Anderson L, Mathie L. Neuropathy and Fabry’s disease. Muscle Nerve 2005; 31 : 102–7. [Google Scholar]
Hozumi I, Nishizawa M, Ariga T, et al. Accumulation of glycosphingolipids in spinal and sympathetic ganglia of a symptomatic heterozygote of Fabry’s disease. J Neurol Sci 1989; 90 : 273–80. [Google Scholar]
De Veber GA, Schwarting GA, et al. Fabry disease : immunocytochemical characterization of neuronal involvement. Ann Neurol 1992; 31 : 409–15. [Google Scholar]
Mitsias P, Levine SR. Cerebrovascular complications of Fabry’s disease. Ann Neurol 1996; 40 : 8–17. [Google Scholar]
Germain DP, Avan P, Chassaing A, et al. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet 2002; 3 : 10. [Google Scholar]
Cable WJ, Kolodny EH, Adams RD. Fabry disease : impaired autonomic function. Neurology 1982; 32 : 498–502. [Google Scholar]
Giacomini PS, Shannon PT, Clarke JT, et al. Fabry’s disease presenting as stroke in a young female. Can J Neurol Sci 2004; 31 : 112–4. [Google Scholar]
Moore DF, Altarescu G, Braker WC, et al. White matter lesion in Fabry disease occurs in prior selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 2003; 62 : 231–40. [Google Scholar]
Moore DF, Scott LTC, Gladwin MT, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease. Reversal after enzyme replacement. Circulation 2001; 104 : 1506–12. [Google Scholar]
Boutouyrie P, Laurent S, Laloux B, et al. Non- invasive evaluation of arterial involvement in patients affected with Fabry disease. J Med Genet 2001; 38 : 629–31. [Google Scholar]
DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000; 47 : 229–33. [Google Scholar]
Hilz MJ, Kolodony EH, Brys M, et al. Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol 2004; 251 : 564–70. [Google Scholar]
Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998; 50 : 1746–9. [Google Scholar]
Moore DF, Ye F, Schiffmann R, et al. Increased signals intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. Am J Neuroradiol 2003; 62 : 231–40. [Google Scholar]
Takanashi JI, Barkovich J, Dillon WP, et al. T1 hyperintensity in the pulvinar : key imaging feazture for diagnosis of Fabry disease. Am J Neuroradiol 2003; 24 : 916–21. [Google Scholar]
Tedeschi G, Bonavita S, Banerjee TK, et al. Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study. Neurology 1999; 52 : 1663–7. [Google Scholar]
Moore DF, Altarescu G, Ling GS, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002; 33 : 525–31. [Google Scholar]
Germain DP. La maladie de Fabry en 2004 : l’avènement de la thérapeutique. Rev Prat 2003; 53 : 2215–20. [Google Scholar]
Demuth K, Germain DP. Endothelial markers and homocysteine in patients with classic Fabry disease. Acta Paediatr 2002; 91 : 57–61. [Google Scholar]
Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase replacement therapy in Fabry’s disease. N Engl J Med 2001; 345 : 9–16. [Google Scholar]
Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002; 62 : 1933–46. [Google Scholar]

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[1] Hornbostel H. Das angiokeratoma corporis diffusum universale mit kardio-vaso-renalem symptomenkomplex als neuartige thesaurismoseform. Helvetica Medica Acta 1952; 19 : 388–96. [Google Scholar]

[2] MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease : clinical manifestations and impact of the disease in a cohort of 98 hemizygous males.J Med Genet 2001; 38 : 750–60. [Google Scholar]

[3] Whybra C, Kampmann C, Willers I, et al. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001; 24 : 715–24. [Google Scholar]

[4] Wilcox W, Banikazemi M, Guffon N, et al. Long-term safety and efficacity of enzyme replacement therapy Fabry disease. Am J Hum Genet 2004; 75 : 65–74. [Google Scholar]

[5] Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest 2004; 34 : 236–42. [Google Scholar]

[6] Valeriani M, Mariotti P, Le Pera D, et al. Functional assessment of A delta and C fibers in patients with Fabry’s disease. Muscle Nerve 2004; 30 : 708–13. [Google Scholar]

[7] Beck M, Whybra C, Wendrick K, et al. Fabry disease in children and adolescent. Contrib Nephrol 2001; 136 : 251–5. [Google Scholar]

[8] Filling-Katz MR, Merrick HF, Fink JK, et al. Carbamazepine in Fabry’s disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction. Neurology 1989; 39 : 598–600. [Google Scholar]

[9] Hilz MJ, Brys M, Marthol H, et al. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 2004; 62 : 1066–72. [Google Scholar]

[10] Luciano CA, Russell JW, Banerjee TK, et al. Physiological characterization of neuropathy in Fabry’s disease. Muscle Nerve 2002; 26 : 622–9. [Google Scholar]

[11] Gomes I, Nora DB, Becker J, et al. Nerve conduction studies, electromyography and sympathetic skin response in Fabry’s disease. J Neurol Sci 2003; 214 : 21–5. [Google Scholar]

[12] Lacomis D, Roeske-Anderson L, Mathie L. Neuropathy and Fabry’s disease. Muscle Nerve 2005; 31 : 102–7. [Google Scholar]

[13] Hozumi I, Nishizawa M, Ariga T, et al. Accumulation of glycosphingolipids in spinal and sympathetic ganglia of a symptomatic heterozygote of Fabry’s disease. J Neurol Sci 1989; 90 : 273–80. [Google Scholar]

[14] De Veber GA, Schwarting GA, et al. Fabry disease : immunocytochemical characterization of neuronal involvement. Ann Neurol 1992; 31 : 409–15. [Google Scholar]

[15] Mitsias P, Levine SR. Cerebrovascular complications of Fabry’s disease. Ann Neurol 1996; 40 : 8–17. [Google Scholar]

[16] Germain DP, Avan P, Chassaing A, et al. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet 2002; 3 : 10. [Google Scholar]

[17] Cable WJ, Kolodny EH, Adams RD. Fabry disease : impaired autonomic function. Neurology 1982; 32 : 498–502. [Google Scholar]

[18] Giacomini PS, Shannon PT, Clarke JT, et al. Fabry’s disease presenting as stroke in a young female. Can J Neurol Sci 2004; 31 : 112–4. [Google Scholar]

[19] Moore DF, Altarescu G, Braker WC, et al. White matter lesion in Fabry disease occurs in prior selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 2003; 62 : 231–40. [Google Scholar]

[20] Moore DF, Scott LTC, Gladwin MT, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease. Reversal after enzyme replacement. Circulation 2001; 104 : 1506–12. [Google Scholar]

[21] Boutouyrie P, Laurent S, Laloux B, et al. Non- invasive evaluation of arterial involvement in patients affected with Fabry disease. J Med Genet 2001; 38 : 629–31. [Google Scholar]

[22] DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000; 47 : 229–33. [Google Scholar]

[23] Hilz MJ, Kolodony EH, Brys M, et al. Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol 2004; 251 : 564–70. [Google Scholar]

[24] Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998; 50 : 1746–9. [Google Scholar]

[25] Moore DF, Ye F, Schiffmann R, et al. Increased signals intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. Am J Neuroradiol 2003; 62 : 231–40. [Google Scholar]

[26] Takanashi JI, Barkovich J, Dillon WP, et al. T1 hyperintensity in the pulvinar : key imaging feazture for diagnosis of Fabry disease. Am J Neuroradiol 2003; 24 : 916–21. [Google Scholar]

[27] Tedeschi G, Bonavita S, Banerjee TK, et al. Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study. Neurology 1999; 52 : 1663–7. [Google Scholar]

[28] Moore DF, Altarescu G, Ling GS, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002; 33 : 525–31. [Google Scholar]

[29] Germain DP. La maladie de Fabry en 2004 : l’avènement de la thérapeutique. Rev Prat 2003; 53 : 2215–20. [Google Scholar]

[30] Demuth K, Germain DP. Endothelial markers and homocysteine in patients with classic Fabry disease. Acta Paediatr 2002; 91 : 57–61. [Google Scholar]

[31] Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase replacement therapy in Fabry’s disease. N Engl J Med 2001; 345 : 9–16. [Google Scholar]

[32] Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002; 62 : 1933–46. [Google Scholar]