CNS manifestations of Fabry's disease

The Lancet Neurology - Tập 5 - Trang 791-795 - 2006
Andreas Fellgiebel1, Matthias J Müller1, Lionel Ginsberg2
1Department of Psychiatry, University of Mainz, Mainz Germany
2Department of Neurology, Royal Free Hospital, London, UK

Tài liệu tham khảo

Garman, 2004, The molecular defect leading to Fabry disease: structure of human alpha-galactosidase, J Mol Biol, 337, 319, 10.1016/j.jmb.2004.01.035 Mehta, 2004, Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey, Eur J Clin Invest, 34, 236, 10.1111/j.1365-2362.2004.01309.x Mitsias, 1996, Cerebrovascular complications of Fabry's disease, Ann Neurol, 40, 8, 10.1002/ana.410400105 Ginsberg, 2006, Magnetic resonance imaging changes in Fabry disease, Acta Paediatr Suppl, 95, 57, 10.1080/08035320600618908 Lehmann, 2006, A 32-year-old man with relapsing-progressive brainstem symptoms, Lancet Neurol, 5, 97, 10.1016/S1474-4422(05)70287-8 Mehta, 2005, Natural history of the cerebrovascular complications of Fabry disease, Acta Paediatr Suppl, 94, 24, 10.1080/08035320510028076 Lyon, 1961, Gene action in the X-chromosome of the mouse (Mus musculus L), Nature, 190, 372, 10.1038/190372a0 Morgan, 1990, The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency): investigation of symptomatic and presymptomatic patients, Q J Med, 75, 491 Crutchfield, 1998, Quantitative analysis of cerebral vasculopathy in patients with Fabry disease, Neurology, 50, 1746, 10.1212/WNL.50.6.1746 Tedeschi, 1999, Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study, Neurology, 52, 1663, 10.1212/WNL.52.8.1663 Moore, 2002, Elevated CNS average diffusion constant in Fabry disease, Acta Paediatr Suppl, 91, 67, 10.1111/j.1651-2227.2002.tb03114.x Takanashi, 2003, T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease, AJNR Am J Neuroradiol, 24, 916 Moore, 2003, Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease, AJNR Am J Neuroradiol, 24, 1096 Moore, 2003, White matter lesions in Fabry disease occur in ‚prior’ selectively hypometabolic and hyperperfused brain regions, Brain Res Bull, 62, 231, 10.1016/j.brainresbull.2003.09.021 Jardim, 2004, CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy, J Inherit Metab Dis, 27, 229, 10.1023/B:BOLI.0000028794.04349.91 Fellgiebel, 2005, White matter lesion severity in male and female patients with Fabry disease, Neurology, 65, 600, 10.1212/01.wnl.0000173030.70057.eb Fellgiebel, 2006, Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study, J Neurol, 253, 780, 10.1007/s00415-006-0118-y Gupta, 2005, The relationship of vascular glycolipid storage to clinical manifestations of fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women, Medicine (Baltimore), 84, 261, 10.1097/01.md.0000178976.62537.6b Politei, 2006, Magnetic resonance image findings in 5 young patients with Fabry disease, Neurologist, 12, 103, 10.1097/01.nrl.0000187495.16824.a6 Marino, 2006, Diffuse structural and metabolic brain changes in Fabry disease, J Neurol, 10.1007/s00415-005-0020-z Cabrera-Salazar, 2005, Radiological evidence of early cerebral microvascular disease in young children with Fabry disease, J Pediatr, 147, 102, 10.1016/j.jpeds.2005.03.004 Hilz, 2004, Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease, J Neurol, 251, 564, 10.1007/s00415-004-0364-9 Itoh, 2001, Local and global cerebral blood flow and glucose utilization in the alpha-galactosidase A knockout mouse model of Fabry disease, J Neurochem, 79, 1217, 10.1046/j.1471-4159.2001.00669.x Pantoni, 1997, Pathogenesis of leukoaraiosis: a review, Stroke, 28, 652, 10.1161/01.STR.28.3.652 Bisschops, 2004, High total cerebral blood flow is associated with a decrease of white matter lesions, J Neurol, 251, 1481, 10.1007/s00415-004-0569-y Shibata, 2004, White matter lesions and glial activation in a novel mouse model of chronic cerebral hypoperfusion, Stroke, 35, 2598, 10.1161/01.STR.0000143725.19053.60 Altarescu, 2005, Effect of genetic modifiers on cerebral lesions in Fabry disease, Neurology, 64, 2148, 10.1212/01.WNL.0000166000.24321.4F Hughes, 2005, Vascular complications of Fabry disease: enzyme replacement and other therapies, Acta Paediatr Suppl, 94, 28, 10.1080/08035320510028760 Garzuly, 2005, Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene, Brain, 128, 2078, 10.1093/brain/awh546 deVeber, 1992, Fabry disease: immunocytochemical characterization of neuronal involvement, Ann Neurol, 31, 409, 10.1002/ana.410310410 Kaye, 1988, Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation, Ann Neurol, 23, 505, 10.1002/ana.410230513 Schiffmann, 2006, Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement, Virchows Arch, 448, 337, 10.1007/s00428-005-0089-x Rolfs, 2005, Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study, Lancet, 366, 1794, 10.1016/S0140-6736(05)67635-0 Carolei, 1993, A prospective study of cerebral ischemia in the young. Analysis of pathogenic determinants, Stroke, 24, 362, 10.1161/01.STR.24.3.362 Kristensen, 1997, Epidemiology and etiology of ischemic stroke in young adults aged 18 to 44 years in northern Sweden, Stroke, 28, 1702, 10.1161/01.STR.28.9.1702 Adams, 1995, Ischemic stroke in young adults: experience in 329 patients enrolled in the Iowa Registry of stroke in young adults, Arch Neurol, 52, 491, 10.1001/archneur.1995.00540290081021 Yamauchi, 2002, Significance of white matter high intensity lesions as a predictor of stroke from arteriolosclerosis, J Neurol Neurosurg Psychiatry, 72, 576, 10.1136/jnnp.72.5.576 Prins, 2004, Measuring progression of cerebral white matter lesions on MRI: visual rating and volumetrics, Neurology, 62, 1533, 10.1212/01.WNL.0000123264.40498.B6 Holtmannspotter, 2005, Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study, Stroke, 36, 2559, 10.1161/01.STR.0000189696.70989.a4 O'Sullivan, 2001, Normal-appearing white matter in ischemic leukoaraiosis: a diffusion tensor MRI study, Neurology, 57, 2307, 10.1212/WNL.57.12.2307 O'Sullivan, 2004, Diffusion tensor MRI correlates with executive dysfunction in patients with ischaemic leukoaraiosis, J Neurol Neurosurg Psychiatry, 75, 441, 10.1136/jnnp.2003.014910 DeGraba, 2000, Profile of endothelial and leukocyte activation in Fabry patients, Ann Neurol, 47, 229, 10.1002/1531-8249(200002)47:2<229::AID-ANA13>3.0.CO;2-T Demuth, 2002, Endothelial markers and homocysteine in patients with classic Fabry disease, Acta Paediatr Suppl, 91, 57, 10.1111/j.1651-2227.2002.tb03112.x Beck, 2004, Fabry disease: overall effects of agalsidase alfa treatment, Eur J Clin Invest, 34, 838, 10.1111/j.1365-2362.2004.01424.x Hilz, 2004, Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy, Neurology, 62, 1066, 10.1212/01.WNL.0000118207.84514.40 Moore, 2002, Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement, Stroke, 33, 525, 10.1161/hs0202.102601