T1 Hyperintensity in the Pulvinar: Key Imaging Feature for Diagnosis of Fabry Disease

References

1. ↵
   Desnick RJ, Ioannou YA, Eng CM. α-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill;2001 :3733–3774
2. ↵
   deVeber GA, Schwarting GA, Kolodny EH, Kowall NW. Fabry disease: immunocytochemical characterization of neuronal involvement. Ann Neurol 1992;31:409–415

   CrossRefPubMedWeb of Science
3. ↵
   Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry’s disease: clinicopathological and biochemical correlation. Ann Neurol 1988;23:505–509

   CrossRefPubMedWeb of Science
4. Drunnet ML, Spilsbury PR. The central nervous system in Fabry’s disease. Arch Neurol 1973;28:231–234

   CrossRefPubMed
5. Tabira T, Goto I, Kuroiwa Y, Kikuchi M. Neuropathological and biochemical studies in Fabry’s disease. Acta Neuropathol 1974;30:345–354

   CrossRefPubMed
6. ↵
   Rahman AN, Lindenberg R. The neuropathology of hereditary dystropic lipidosis. Arch Neurol 1963;9:373–385
7. ↵
   Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998;50:1746–1749

   Abstract/FREE Full Text
8. ↵
   Morgan SH, Rudge P, Smith SJM, et al. The neuropathological complications of Anderson-Fabry disease (α-galactosidase A deficiency): investigation of symptomatic and presymptomatic patients. Q J Med 1990;75:491–504
9. ↵
   Scully RE, Mark EJ, McNeely BU. Case records of the Massachusetts General Hospital. N Engl J Med 1984;310:106–114

   PubMedWeb of Science
10. ↵
    Mitsias P, Levine SR. Cerebrovascular complications of Fabry’s disease. Ann Neurol 1996;40:8–17

    CrossRefPubMedWeb of Science
11. ↵
    Aoki S, Okada Y, Nishimura K, et al. Normal deposition of brain iron in childhood and adolescence: MR imaging at 1.5 T. Radiology 1989;172:381–385

    PubMedWeb of Science
12. ↵
    Barkovich AJ. MR and CT evaluation of profound neonatal and infantile asphyxia. AJNR Am J Neuroradiol 1992;13:959–972

    Abstract/FREE Full Text
13. ↵
    Li JY, Lai PH, Chen CY, Wang JS, Lo YK. Postanoxic Parkinsonism: clinical, radiologic, and pathologic correlation. Neurology 2000;55:591–593

    Abstract/FREE Full Text
14. ↵
    Yagishita A, Nakano I, Ushioda T, et al. Acute encephalopathy with bilateral thalamotegmental involvement in infants and children: imaging and pathology findings. AJNR Am J Neuroradiol 1995;16:439–447

    Abstract
15. ↵
    Mugikura S, Takahashi S, Higano S, et al. MR findings in Tay-Sachs disease. J Comput Assist Tomogr 1996;20:551–555

    CrossRefPubMed
16. ↵
    Kendall BE. Disorders of lysosomes, peroxisomes, and mitochondria. AJNR Am J Neuroradiol 1992;13:621–653

    FREE Full Text
17. ↵
    Zeidler M, Sellar RJ, Collie DA, et al. The pulvinar sign on magnetic resonance imaging in variant Creutzfeldt-Jacob disease. Lancet 2000;335:1412–1418
18. ↵
    Collie DA, Sellar RJ, Zeidler M, et al. MRI of Creutzfeldt-Jakob disease: imaging features and recommended MRI protocol. Clin Radiol 2001;56:726–739

    CrossRefPubMedWeb of Science
19. ↵
    Henkelman RM, Watts JF, Kucharczyk W. High signal intensity in MR images of calcified brain tissue. Radiology 1991;179:199–206

    PubMedWeb of Science
20. ↵
    Ho VB, Fitz CR, Chuang SH, Geyer CA. Bilateral basal ganglia lesions: pediatric differential considerations. Radiographics 1993;13:269–292

    PubMedWeb of Science
21. ↵
    Shanley DJ. Meneralizing microangiopathy: CT and MRI. Neuroradiology 1995;37:331–333

    PubMed
22. ↵
    Gomori JM, Grossman RI. Mechanisms responsible for MR appearance and evolution of intracranial hemorrhage. Radiographics 1988;8:427–440

    PubMed
23. ↵
    Atlas SW, Grossman RI, Gomori JM, et al. MR imaging of the intracranial metastatic melanoma. J Comput Assist Tomogr 1987;11:577–582

    PubMed
24. ↵
    Boyko OB, Burger PC, Shelburne JD, Ingram P. Non-heme mechanisms for T1 shortening: pathologic, CT, and MR elucidation. AJNR Am J Neuroradiol 1992;13:1439–1445

    Abstract/FREE Full Text
25. ↵
    Tedeschi G, Bonavita S, Banerjee TK, et al. Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study. Neurology 1999;52:1663–1667

    Abstract/FREE Full Text
26. ↵
    Vymazal J, Righini A, Brooks RA, et al. T1 and T2 in the brain of healthy subjects, patients with Parkinson disease, and patients with multiple system atrophy: relation to iron content. Radiology 1999;211:489–495

    PubMedWeb of Science
27. ↵
    Ward R, Danziger S, Owen V, Rafal R. Deficits in special coding and feature binding following damage to spatiotopic maps in the human pulvinar. Nat Neurosci 2002;5:99–100

    CrossRefPubMedWeb of Science
28. ↵
    Brady RO, Murray GJ, Moore DF, Schiffmann R. Enzyme replacement therapy in Fabry disease. J Inherit Metab Dis 2001;24:18–24
29. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9–16

    CrossRefPubMedWeb of Science
30. ↵
    Schiffmann R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry disease: a randomized control trial. JAMA 2001;285:2743–2749

    CrossRefPubMedWeb of Science
31. ↵
    Moore DF, Scott LTC, Gladwin MT, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001;104:1506–1512

    Abstract/FREE Full Text
32. ↵
    Morgan SH, Crawfurd Md’A. Anderson-Fabry disease: a commonly missed diagnosis. BMJ 1988;297:872–873