The pulvinar sign: Frequency and clinical correlations in Fabry disease

Journal of Neurology

Volumn 255, Issue 5, 2008, Pages 738-744

  Burlina, A P ^a   Manara, R ^a   Caillaud, C ^b   Laissy, J P ^c   Severino, M ^a   Klein, I ^c   Burlina, A ^a   Lidove, O ^c  

^a UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^b Cochin Hospital ^*  (France)

^c BICHAT HOSPITAL   (France)

Author keywords

Brain MRI; Fabry disease; Posterior thalamus; Pulvinar; T1 images

Indexed keywords

ADULT; AGED; ARTICLE; BRAIN DAMAGE; CEREBROVASCULAR ACCIDENT; CONTROLLED STUDY; FABRY DISEASE; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PULVINAR; VASCULAR DISEASE;

ADOLESCENT; ADULT; AGED; BRAIN ISCHEMIA; CARDIOMYOPATHY, HYPERTROPHIC; COHORT STUDIES; FABRY DISEASE; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PREDICTIVE VALUE OF TESTS; PROSPECTIVE STUDIES; PULVINAR; RENAL INSUFFICIENCY; SENSITIVITY AND SPECIFICITY; SEX DISTRIBUTION; SEX FACTORS; STROKE; VERTEBROBASILAR INSUFFICIENCY;

EID: 44449134068     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0786-x     Document Type: Article

References (24)

1. th ed, Vol 3. McGraw-Hill, New York, pp 3733-3774
2. MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38:750-760
3. MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38:769-775
4. Wang RY, Lelis A, Mirocha J, Wilcox WR (2007) Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 9:34-45
5. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249-254
6. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al. (2006) High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 79:31-40
7. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO (2001) Enzyme replacement therapy in Fabry disease. JAMA 285:2743-2749
8. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ; International Collaborative Fabry Disease Study Group (2001) Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 345:9-16
9. Fellgiebel A, Müller MJ, Ginsberg L (2006) CNS manifestations of Fabry's disease. Lancet Neurol 5:791-795
10. Ries M, Kim HJ, Zalewski CK, Mastroianni MA, Moore DF, Brady RO, Dambrosia JM, Schiffmann R, Brewer CC (2007) Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 130:143-150
11. Ginsberg L, Manara R, Valentine AR, Kendall B, Burlina AP (2006) Magnetic resonance imaging changes in Fabry disease. Acta Paediatrica 95(Suppl 451):57-62
12. Lidove O, Klein I, Lelièvre JD, Lavallée P, Serfaty JM, Dupuis E, Papo T, Laissy JP (2006) Imaging features of Fabry disease. Am J Roentgenol 186:1184-1191
13. Moore DF, Ye F, Schiffmann R, Butman JA (2003) Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. Am J Neuroradiol 24:1096-1101
14. Takanashi JI, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S (2003) T1 hyperintensity in the pulvinar: key imaging feature for the diagnosis of Fabry disease. Am J Neuroradiol 24:916-921
15. Fellgiebel A, Mazanek M, Whybra C, Beck M, Hartung R, Müller K-M, Scheurich A, Dellani PR, Stoeter P, Müller MJ (2006) Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study. J Neurol 253:780-787
16. Gavazzi C, Borsini W, Guerrini L, Della Nave R, Rocca MA, Tessa C, Büchner S, Belli G, Filippi M, Villari N, Mascalchi M (2006) Subcortical damage and cortical functional changes in men and women with Fabry disease: a multifaceted MR study. Radiology 241:492-500
17. Manara R, Ginsberg L, Severino S, Valentine AR, Kendall B, Clarke JTR, Mehta A, Burlina AP (2007) White matter and pulvinar signal abnormalities in Fabry disease: data from the Fabry Outcome Survey (FOS). J Neurol 254(Suppl 3):III/13
18. Sahraian MA, Motamedi M, Azimi AR, Hasan Paknejad SM (2007) Bilateral pulvinar thalamic calcification in a patient with chronic cryptococcal meningitis. Eur J Neurol 14:e1-e2
19. Schmahmann JD (2003) Vascular syndromes of the thalamus. Stroke 34:2264-2278
20. Rolfs A (2006) Cryptogenic CVE due to Fabry disease: measuring its incidence. International Workshop on Lysosomal Storage Disorders. Budapest, communication
21. Hegemann S, Hajioff D, Conti G, Beck M, Sunder-Plassmann G, Widmer U, Mehta A, Keilman A (2006) Hearing loss in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest 36:654-662
22. Limberger A, Beck M, Delgado-Sanchez S, Keilman A (2007) Hearing loss in patients with Fabry disease. HNO 55:185-189
23. Moore DF, Scott LTC, Gladwin MT, Altarescu G, Kaneski C, Suzuki K, Pease-Fye M, Ferri R, Brady RO, Herscovitch P, Schiffmann R (2001) Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 104:1506-1512
24. Moore DF, Ye F, Brennan M-L, Gupta S, Barshop BA, Steiner RD, Rhead WJ, Brady RO, Hazen SL, Schiffmann R (2004) Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imag 20:674-683