Subcortical damage and cortical functional changes in men and women with fabry disease: A multifaceted MR study

Radiology

Volumn 241, Issue 2, 2006, Pages 492-500

  Gavazzi, Cinzia ^a   Borsini, Walter ^a   Guerrini, Laura ^a   Della Nave, Riccardo ^a   Rocca, Maria Assunta ^b   Tessa, Carlo ^a   Buchner, Suzanne ^a   Belli, Giacomo ^c   Filippi, Massimo ^b   Villari, Natale ^a   Mascalchi, Mario ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE; CREATINE; N ACETYLASPARTIC ACID;

ADULT; ARTICLE; BRAIN CORTEX LESION; BRAIN DAMAGE; BRAIN FUNCTION; BRAIN HEMORRHAGE; BRAIN INFARCTION; BRAIN ISCHEMIA; BRAIN MAPPING; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; FABRY DISEASE; FEMALE; FINGER; FLEXOR REFLEX; FRONTAL CORTEX; FUNCTIONAL MAGNETIC RESONANCE IMAGING; HAND; HUMAN; MALE; MOTOR PERFORMANCE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTON NUCLEAR MAGNETIC RESONANCE; SCORING SYSTEM; SENSORIMOTOR CORTEX; TASK PERFORMANCE; VERTEBRAL ARTERY; WHITE MATTER;

ADULT; BRAIN; CASE-CONTROL STUDIES; FABRY DISEASE; FEMALE; HUMANS; LINEAR MODELS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; PROSPECTIVE STUDIES; STATISTICS, NONPARAMETRIC;

EID: 33750366055     PISSN: 00338419     EISSN: None     Source Type: Journal    
DOI: 10.1148/radiol.2412051122     Document Type: Article

References (32)

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 bases of inherited disease. 8th ed. New York, NY: McGraw-Hill, 2001; 3733-3774.
2. Crutchfield KE, Patronas NJ, Dambrosia JM, et, al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998;50:1746-1749.
3. Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996;40:8-17.
4. Takanashi J, Barkovich AJ, Dillon WP, et al. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol 2003;24:916-921.
5. Moore DF, Ye F, Schiffman R, Butman JA. Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 2003;24:1096-1101.
6. 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.
7. Moore DF, Schiffmann R, Ulug AM. Elevated CNS average diffusion constant in Fabry disease. Acta Paediatr Suppl 2002;91(439):67-68.
8. Jardim L, Vedolin L, Schwartz IVD, 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;27:229-240.
9. Moore DF, Ye F, Brennan ML, et al. Ascorhate descreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging 2004;20:674-683.
10. 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;34:236-242.
11. Oldfield RC. The assessment and analysis of handedness: the Edinburgh inventory. Neuropsychologia 1971;9:97-113.
12. Herndon RM. Handbook of neurological rating scales. New York. NY: Dernos Vermande, 1997.
13. Mascalchi M, Brugnoli R, Guerrini L, et al. Single voxel long TE MR spectroscopy of the normal brainstem and cerebellum. J Magn Reson Imaging 2002;16:532-537.
14. Rocca MA, Falini A, Colombo B, et al. Adaptive functional changes in the cerebral cortex of patients with non-disabling MS correlate with the extent of brain structural damage. Ann Neurol 2002;51:330-339.
15. Fazekas F, Chawluk JB, Alavi A, Hurtig HI, Zimmerman RA. MR signal abnormalities at 1.5 T in Alzheimer's dementia and normal aging. AJR Am J Roentgenol 1987;149:351-356.
16. Mascalchi M, Tessa C, Moretti M, et al. Whole brain diffusion coefficient histogram: a new tool for evaluation of leukoaraiosis. J Magn Reson Imaging 2002;15:144-148.
17. Smith SM, De Stefano N, Jenkison M, Matthews PM. Normalized accurate measurement of longitudinal brain change. J Comput Assist Tomogr 2001;25:466-475.
18. Friston KJ, Holmes AP, Poline JB, et al. Analysis of fMRI time series revisited. NeuroImage 1995;2:45-53.
19. Worsley KJ, Friston KJ. Analysis of fMRI time-series revisited again. NeuroImage 1995;2:173-181.
20. Friston KJ, Holmes AP, Price CJ, et al. Multisubject fMRI studies and conjunction analysis. NeuroImage 1999;10:385-396.
21. Poline JB, Worsley KJ, Evans AC, Friston KJ. Combining spatial extent and peak intensity to test for activations in functional imaging. NeuroImage 1997;5:83-96.
22. MacDermot KD, Holmes A, Miners AH. Andreson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38:750-760.
23. MacDermot KD, Holmes A, Miners AH. Andreson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 ohligate carrier females. J Med Genet. 2001;38:769-775.
24. Altarescu GM, Goldfarb LG, Park KY, et al. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 2001;60:46-51.
25. Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-2749.
26. Whybra C, Kampmann C, Willers I, et al. Anderson-Fabry disease: clinical manifestation of disease in female heterozygotes. J Inherit Metab Dis 2001;24:715-724.
27. Grewal RP, McLatchey SK. Cerebrovascular manifestations in a female carrier of Fabry's disease. Acta Neurol Belg 1992;92:36-40.
28. Auer DP, Schirmer T, Heidenreich JO, Herzog J, Putz B, Dichgans M. Altered white and gray matter metabolism in CADASIL: a proton MR and 1H-MRSI study. Neurology 2001;56:635-642.
29. Dichgans M. A new cause of hereditary small vessels disease: angiopathy of retina and drain. Neurology 2003;60:8-9.
30. deVeber GA, Schwarting GA, Kolodny EH, Kowall NW. Fabry disease: immunocytochemical characterization of neuronal involvement. Ann Neurol 1992;31:409-415.
31. Filippi M, Rocca MA. Cortical reorganization in patients with MS. J Neurol Neurosurg Psychiatry 2004;75:1087-1089.
32. Reddy H, De Stefano N, Mortilla M, et al. Functional reorganization of motor cortex increases with greater axonal injury from CADASIL. Stroke 2002;33:502-508.