Progressive Changes in Cerebral Apparent Diffusion Values in Fabry Disease: A 5-Year Follow-up MRI Study

References

1. 1.↵
   1. Fabry H

   . Angiokeratoma corporis diffusum: Fabry disease—historical review from the original description to the introduction of enzyme replacement therapy. Acta Paediatr 2002;91:3–5 doi:10.1111/j.1651-2227.2002.tb03102.x pmid:12572835

   CrossRefPubMed
2. 2.↵
   1. Zarate YA,
   2. Hopkin RJ

   . Fabry’s disease. Lancet 2008;372:1427–35 doi:10.1016/S0140-6736(08)61589-5 pmid:18940466

   CrossRefPubMedWeb of Science
3. 3.↵
   1. Jardim LB,
   2. Aesse F,
   3. Vedolin LM, et al

   . White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up. Arq Neuropsiquiatr .2006;64:711–17 doi:10.1590/s0004-282x2006000500002

   CrossRefPubMed
4. 4.↵
   1. Körver S,
   2. Vergouwe M,
   3. Hollak CEM, et al

   . Development and clinical consequences of white matter lesions in Fabry disease: a systematic review. Mol Genet Metab 2018;125:205–16 doi:10.1016/j.ymgme.2018.08.014

   CrossRefPubMed
5. 5.↵
   1. Ulivi L,
   2. Kanber B,
   3. Prados F, et al

   . White matter integrity correlates with cognition and disease severity in Fabry disease. Brain 2020;143:3331–42 doi:10.1093/brain/awaa282 pmid:33141169

   CrossRefPubMed
6. 6.↵
   1. Murphy P,
   2. Williams F,
   3. Davagnanam I, et al

   . Cognitive dysfunction and white matter hyperintensities in Fabry disease. J Inherit Metab Dis 2022;45:782–95 doi:10.1002/jimd.12472 pmid:34994980

   CrossRefPubMed
7. 7.↵
   1. Rost NS,
   2. Cloonan L,
   3. Kanakis AS, et al

   . Determinants of white matter hyperintensity burden in patients with Fabry disease. Neurology 2016;86:1880–86 doi:10.1212/WNL.0000000000002673 pmid:27164662

   CrossRefPubMed
8. 8.↵
   1. Arends M,
   2. Wanner C,
   3. Hughes D, et al

   . Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol 2017;28:1631–41 doi:10.1681/ASN.2016090964 pmid:27979989

   Abstract/FREE Full Text
9. 9.↵
   1. Fellgiebel A,
   2. Keller I,
   3. Marin D, et al

   . Diagnostic utility of different MRI and MR angiography measures in Fabry disease. Neurology 2009;72:63–68 doi:10.1212/01.wnl.0000338566.54190.8a pmid:19122032

   Abstract/FREE Full Text
10. 10.↵
    1. Rombach SM,
    2. Twickler TB,
    3. Aerts JM, et al

    . Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol Genet Metab 2010;99:99–108 doi:10.1016/j.ymgme.2009.10.004 pmid:19900828

    CrossRefPubMed
11. 11.↵
    1. Wei EP,
    2. Kontos HA,
    3. Beckman JS

    . Mechanisms of cerebral vasodilation by superoxide, hydrogen peroxide, and peroxynitrite. Am J Physiol 1996;271(3 Pt 2):H1262–66 doi:10.1152/ajpheart.1996.271.3.H1262 pmid:8853367

    CrossRefPubMed
12. 12.↵
    1. Moore DF,
    2. Kaneski CR,
    3. Askari H, et al

    . The cerebral vasculopathy of Fabry disease. J Neurol Sci 2007;257:258–63 doi:10.1016/j.jns.2007.01.053 pmid:17362993

    CrossRefPubMedWeb of Science
13. 13.↵
    1. Moore DF,
    2. Altarescu G,
    3. Barker WC, et al

    . White matter lesions in Fabry disease occur in “prior” selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 2003;62:231–40 doi:10.1016/j.brainresbull.2003.09.021 pmid:14698356

    CrossRefPubMedWeb of Science
14. 14.↵
    1. Böttcher T,
    2. Rolfs A,
    3. Tanislav C, et al

    . Fabry disease: underestimated in the differential diagnosis of multiple sclerosis? PLoS One 2013;8:e71894 doi:10.1371/journal.pone.0071894 pmid:24015197

    CrossRefPubMed
15. 15.↵
    1. Albrecht J,
    2. Dellani PR,
    3. Müller MJ, et al

    . Voxel based analyses of diffusion tensor imaging in Fabry disease. J Neurol Neurosurg Psychiatry 2007;78:964–69 doi:10.1136/jnnp.2006.112987 pmid:17449543

    Abstract/FREE Full Text
16. 16.↵
    1. Paavilainen T,
    2. Lepomäki V,
    3. Saunavaara J, et al

    . Diffusion tensor imaging and brain volumetry in Fabry disease patients. Neuroradiology 2013;55:551–58 doi:10.1007/s00234-012-1131-8 pmid:23292181

    CrossRefPubMed
17. 17.↵
    1. Körver S,
    2. Longo MG,
    3. Lima MR, et al

    . Determinants of cerebral radiological progression in Fabry disease. J Neurol Neurosurg Psychiatry 2020;91:756–63 doi:10.1136/jnnp-2019-322268 pmid:32317398

    Abstract/FREE Full Text
18. 18.↵
    1. Tol van der L,
    2. Cassiman D,
    3. Houge G, et al

    . Uncertain diagnosis of Fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. JIMD Rep 2014;17:83–90 doi:10.1007/8904_2014_342 pmid:25224312

    CrossRefPubMed
19. 19.↵
    1. Smid BE,
    2. Van Der Tol L,
    3. Cecchi F, et al

    . Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int J Cardiol 2014;177:400–08 doi:10.1016/j.ijcard.2014.09.001 pmid:25442977

    CrossRefPubMed
20. 20.↵
    1. Schmidt P

    . Bayesian Inference for Structured Additive Regression Models for Large-Scale Problems with Applications to Medical Imaging. Mathematics January 17, 2017. https://www.semanticscholar.org/paper/Bayesian-inference-for-structured-additive-models-Schmidt/edc315de56ff336b75f36b30bad74fab231d39ca. Accessed June 20, 2022
21. 21.↵
    1. Bates D,
    2. Mächler M,
    3. Bolker BM, et al

    . Fitting linear mixed-effects models using lme4. Journal of Statistical Software 2015;67 doi:10.18637/jss.v067.i01

    CrossRefPubMed
22. 22.↵
    1. Baayen RH,
    2. Davidson DJ,
    3. Bates DM

    . Mixed-effects modeling with crossed random effects for subjects and items. Journal of Memory and Language 2008;59:390–412 doi:10.1016/j.jml.2007.12.005

    CrossRefWeb of Science
23. 23.↵
    1. Fellgiebel A,
    2. Müller MJ,
    3. Mazanek M, et al

    . White matter lesion severity in male and female patients with Fabry disease. Neurology 2005;65:600–02 doi:10.1212/01.wnl.0000173030.70057.eb pmid:16116124

    Abstract/FREE Full Text
24. 24.↵
    1. Fellgiebel A,
    2. Mazanek M,
    3. Whybra C, et al

    . Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study. J Neurol 2006;253:780–87 doi:10.1007/s00415-006-0118-y pmid:16511647

    CrossRefPubMedWeb of Science
25. 25.↵
    1. Burzynska AZ,
    2. Preuschhof C,
    3. Bäckman L, et al

    . Age-related differences in white matter microstructure: region-specific patterns of diffusivity. Neuroimage 2010;49:2104–12 doi:10.1016/j.neuroimage.2009.09.041 pmid:19782758

    CrossRefPubMedWeb of Science
26. 26.↵
    1. Sener RN

    . Diffusion MRI: apparent diffusion coefficient (ADC) values in the normal brain and a classification of brain disorders based on ADC values. Comput Med Imaging Graph 2001;25:299–326 doi:10.1016/s0895-6111(00)00083-5 pmid:11356324

    CrossRefPubMed
27. 27.↵
    1. Filippi M,
    2. Campi A,
    3. Dousset V, et al

    . A magnetization transfer imaging study of normal-appearing white matter in multiple sclerosis. Neurology 1995;45:478–82 doi:10.1212/wnl.45.3.478 pmid:7898700

    Abstract/FREE Full Text
28. 28.↵
    1. Ciccarelli O,
    2. Werring DJ,
    3. Wheeler-Kingshott CA, et al

    . Investigation of MS normal-appearing brain using diffusion tensor MRI with clinical correlations. Neurology 2001;56:926–33 doi:10.1212/wnl.56.7.926 pmid:11294931

    Abstract/FREE Full Text
29. 29.↵
    1. Jardim L,
    2. Vedolin L,
    3. Schwartz IV, et al

    . CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis 2004;27:229–40 doi:10.1023/B:BOLI.0000028794.04349.91 pmid:15159654

    CrossRefPubMedWeb of Science
30. 30.↵
    1. Fellgiebel A,
    2. Gartenschläger M,
    3. Wildberger K, et al

    . Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease. Cerebrovasc Dis 2014;38:448–56 doi:10.1159/000369293 pmid:25502511

    CrossRefPubMed