Brain MRI and SPECT in the diagnosis of early neurological involvement in Wilson's disease

European Journal of Nuclear Medicine and Molecular Imaging

Volumn 35, Issue 4, 2008, Pages 716-724

  Piga, Mario ^a   Murru, Alessandra ^a   Satta, Loredana ^a   Serra, Alessandra ^a   Sias, Alessandro ^a   Loi, Gianluigi ^a   Marrosu, Francesco ^a   Demelia, Luigi ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

Brain MRI; Brain SPECT; Neurological involvement; SPM; Wilson's disease

Indexed keywords

CYSTEINE ETHYL ESTER TC 99M; GADOLINIUM PENTETATE;

ADULT; ARTICLE; BRAIN DAMAGE; BRAIN PERFUSION; BRAIN REGION; BRODMANN AREA; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; CONTROLLED STUDY; CORRELATION ANALYSIS; DIFFUSION WEIGHTED IMAGING; DRUG UPTAKE; EARLY DIAGNOSIS; FEMALE; FRONTAL LOBE; HUMAN; IMAGE QUALITY; LIVER; LIVER DISEASE; MAJOR DEPRESSION; MALE; MENTAL DISEASE; MOTOR DYSFUNCTION; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL CORTEX; PARIETAL LOBE; PATHOLOGY; PREFRONTAL CORTEX; PSYCHOSIS; PUTAMEN; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; STATISTICAL ANALYSIS; WILSON DISEASE;

ADOLESCENT; ADULT; BRAIN; BRAIN DISEASES; BRAIN MAPPING; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 40949086453     PISSN: 16197070     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00259-007-0681-1     Document Type: Article

References (59)

1. Scheinberg IH, Sternlieb I. Wilson's disease. Major problems in internal medicine, vol XXIII. Philadelphia: Saunders; 1984.
2. Olsson C, Waldenstrom E, Westermark K, Landegre U, Syvanen AC. Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples. Eur J Hum Genet. 2000;8:933-8.
3. Giagheddu A, Demelia L, Puggioni G, Nurchi AM, Contu L, Pirari G, et al. Epidemiologic study of hepatolenticular degeneration (Wilson's disease) in Sardinia (1902-1983). Acta Neurol Scand. 1985;72:43-55.
4. Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, et al. Molecular pathology and haplotype analysis of Wilson's disease in Mediterranean populations. Am J Hum Genet. 1995;57:1318-24.
5. Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, et al. Molecular characterization of Wilson disease in the Sardinian population-evidence of a founder effect. Hum Mut. 1999;14:294-303.
6. Roberts EA, Schilsky ML. A practice guideline on Wilson's disease. Hepatology 2003;l37:75-92.
7. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. 1993;5:327-37.
8. Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC. Characterization of the Wilson's disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing and structure/function predictions. Hum Mol Genet. 1994;3:1647-56.
9. Cullen LM, Prat L, Cox DW. Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease. Clin Genet. 2003;64:429-32.
10. Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet. 2006;120:151-9.
11. Angius A, Dessì V, Lovicu M, De Virgiliis S, Pirastu M, Cao A. Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations. Eur J Pediatr. 1998;157:128-9.
12. Jeon B, Kim JM, Jeong JM, Kim KM, Chang YS, Lee DS, et al. Dopamine transporter imaging with (123)CIT demonstrates presynaptic nigrostriatal dopaminergic damage in Wilson's disease. J Neurol Psych. 1998;65:60-4.
13. Demirkiran M, Jankovic J, Lewis RA, Cox DW. Neurologic presentation of Wilson disease without Kaiser-Fleischer rings. Neurology. 1996;46:1040-3.
14. Bono W, Moutie O, Benomar A, Aidi S, el Alaoui-Faris M, Yahyaoui M, et al. Wilson's disease. Clinical presentation, treatment and evolution in 21 cases. Rev Med Interne. 2002;23:419-31.
15. Akil M, Brewer GJ. Psychiatric and behavioural abnormalities in Wilson's disease. Adv Neurol. 1995;65:171-8.
16. Duchen LW, Jacobs JM. Nutritional deficiencies and metabolic disorders. Greenfield's neuropathology. 5th ed. London: Edward Arnold; 1992. p. 838.
17. Nazer H, Brismar J, Al Kawi MZ, Gunasekaran TS, Jorulf KH. Magnetic resonance imaging of the brain in Wilson's disease. Neuroradiology. 1993;35:130-3.
18. Thuomas KA, Aquilonius SM, Bergstrom K, Westermark K. Magnetic resonance imaging of the brain in Wilson's disease. Neuroradiology. 1993;35:134-41.
19. Giagheddu M, Tamburini G, Piga M, Tacconi P, Giagheddu A, Serra A, et al. Comparison of MRI, EEG, EPs and ED-SPECT in Wilson's disease. Acta Neurol Scand. 2001;103:71-81.
20. Brewer GJ, Yuzbasiyan-Gurkan V. Wilson disease. Medicine. 1992;71:139-64.
21. Starosta-Rubinstein S, Young AB, Kluin K, Hill G, Aisen AM, Gabrielsen T, et al. Clinical assessment of 31 patients with Wilson's disease: correlations with structural changes on magnetic resonance imaging. Arch Neurol. 1987;44:365-70.
22. Magalhaes AC, Caramelli P, Menezes JR, Lo LS, Bacheschi LA, Barbosa ER, et al. Wilson's disease: MRI with clinical correlation. Neuroradiology. 1994;36:97-100.
23. King AD, Walshe JM, Kendall BE, Chinn RJ, Paley MN, Wilkinson ID, et al. Cranial MR imaging in Wilson's disease. Am J Roentgenol. 1996;167:1579-84.
24. Van Wassenaer-van Hall HN, den Heuvel AG, Algra A, Hoogenraad TU, Mali WPTM. Wilson's disease: findings at MR imaging and CT of the brain with clinical correlation. Radiology. 1996;198:531-6.
25. Watanabe N, Seto H, Shimizu M, Kageyama M, Morijiri M, Nomura K, et al. Brain SPECT in Wilson's disease. Clin Nucl Med. 1995;20:1028-30.
26. American Psychiatric Association. Diagnostic and statistical manual of mental disorders DSM-IV-TR. 3rd ed. Washington DC: American Psychiatric Publishing Inc.; 2000.
27. Morbelli S, Rodriguez G, Mignone A, Altrinetti V, Brugnolo A, Piccardo A, et al. The need of appropriate brain SPECT templates for SPM comparisons. Q J Nucl Med Mol Imaging. 2007; in press.
28. Acton PD, Friston KJ. Statistical parametric mapping in functional neuroimaging: beyond PET and fMRI activation studies. Eur J Nucl Med. 1998;25:663-7.
29. Imram MB, Kawashima R, Awata S, Sato K, Kinomura S, Ono S, et al. Parametric mapping of cerebral blood flow deficits in Alzheimer's disease: a SPECT study using HMPAO and image standardization technique. J Nucl Med. 1999;40:244-9.
30. Roh JK, Lee TG, Wie BA, Lee SB, Park SH, Chang KH. Initial and follow-up in brain MRI findings and correlation with the clinical course in Wilson's disease. Neurology. 1994;44:1064-8.
31. Prayer L, Wimberger D, Kramer J, Grimm G, Oder W, Imhof H. Cranial MRI in Wilson's disease. Neuroradiology. 1990;32:211-4.
32. Imai N, Nozaki H, Miyata K, Terayama Y, Ishihara N. Short interval change of 99mTc-ethyl cysteinate dimer single photon emission computed tomography in Wilson's disease. No To Shinkei. 1999;51:785-9.
33. Guizzetti MP. Per l'anatomia patologica della degenerazione lenticolare progressiva con cirrosi epatica (malattia del Wilson). Riv Pat Nerv Ment. 1925;30:89-130.
34. Konovalov NW. Histopathologie der hepatolentikularen Degeneration. II Histopathologie der Rindenerweichungen. Z ges Neurol Psychiat. 1941;171:200-28.
35. Ishino H, Takashi M, Havashi Y, Saito A, Otsuki S. A case of Wilson's disease with enormous cavity formation of cerebral white matter. Neurology. 1972;22:905-9.
36. Tejada I, Barreiro P, Diez Tejedor E, Frank A. Enfermedad de Wilson: imagen en tomografia computadorizada y resonancia magnética. Neurologia. 1990;5:328-31.
37. Berard-Badier M, Lowenthal A, Bernard R, Payan H, Gastaut H. Degenerescence hepatolenticulaire. Etude anatomo-clinique, electroencephalografique et biochimique à propos de trois cas dont deux jumeaux. Psychiat Neurol. 1960;140:445-75.
38. Miyakawa T, Murayama E. An autopsy case of the « demyelinating type » of Wilson's disease. Acta Neuropath. 1976;35:235-41.
39. De Lisi L. Sulla degenerazione lenticolare progressiva (Malattia di Wilson). Riv Pat Nerv Ment. 1914;19:577-644.
40. Pollock LI. The pathology of the nervous system in a case of progressive lenticular degeneration. J Nerv Ment Dis. 1917;46:401-20.
41. Spielmever W. Die histopathologische Zusammengehorig keit der Wilsonschen Krankheit und der Pseudosklerose. Zschr ges Neurol Psychiat. 1920;57:312-51.
42. Braunmohl A. Die Rinden-Markkomponente in anatomischen Bild der Wilson-Pseudosklerosegruppe. Z Ges Neurol Psychiat. 1930;130:1-65.
43. Bielschowskv M, Hallervorden J. Symmetrische Einschmelzungsherde im Stirnhirn beim Wilson-Pseudosklero-sekomplex. J Psych NeuroI. 1931;42:177-209.
44. Sjòwall E, Walgren A. Some aspects of hepatolenticular degeneration and its pathogenesis. Acta Psychiat Neurol. 1934;9:435-64.
45. Van Bogaert L, Willock E. "Etudes anatomo-cliniques sur la dégénérescence hépatolenticulaire. Forme portale de la maladie de Wilson. Forme familiale de lapseudosclérose de Westphal-Strumpell. Rev Neurol. 1936;66:461-97.
46. Rabiner AM, Joachim H, Freiman IS. Hepatolenticular degeneration (Wilson's disease) following splenectomy; interrelationship of the reticuloendothelial and central nervous system. Ann Intern Med. 1941;14:1781-801.
47. Jervis GA, Notkin J, Freiman IS, Moore J. Progressive lenticular degeneration (Wilson's disease). Psychiat Quart. 1942;16:357-72.
48. Gysin WM, Cooke ET. Unusual mental symptoms in a case of hepatolenticular degeneration. Dis Nerv Syst. 1950;11:305-9.
49. Schulman S, Barbeau A. Wilson's disease: a case with almost total loss of cerebral white matter. J Neuropath Exper Neurol. 1963;22:105-19.
50. Fukuda K. Clinical and pathological aspects of Wilson's disease in cases of one and the same family. Tohoku J Exp Med. 1965;85:55-71.
51. Miller GJ, Persaud V. Hereditary hepatolenticular degeneration (Wilson's disease). Report of the first case in Jamaica. Trop Geogr Med. 1968;20:225-32.
52. Chen JJ, Shiau YC, Wang JJ, Ho ST, Kao A. Abnormal regional cerebral blood flow in primary antiphospholipid antibody syndrome patients with normal magnetic resonance imaging findings. Scand J Rheumatol. 2002;31:89-93.
53. Chang CP, Shiau YC, Wang JJ, Ho ST, Kao A. Abnormal regional cerebral flow on 99mTc ECD brain SPECT in patients with primary Sjögren's syndrome and normal findings on brain resonance imaging. Ann Rheum Dis. 2002;61:774-8.
54. Hawkins RA, Mazziotta JC, Pelps ME. Wilson's disease studied with FDG and positron emission tomography. Neurology. 1987;37:1707-11.
55. Hermann W, Barthel H, Hesse S, Grahmann F, Kuhn HJ, Wagner A, et al. Comparison of clinical types of Wilson's disease and glucose metabolism in extrapyramidal motor brain regions. J Neurol. 2002;249:896-901.
56. Jacquier-Sarlin M, Polla BS, Slosman DO. Cellular basis of ECD brain retention. J Nucl Med. 1996;37:1694-7.
57. Albin RL, Young AB, Penney JB. The functional anatomy of basal ganglia disorders. Trends Neurosci. 1989;12:366-75.
58. Hirsch EC, Graybiel AM, Hersh LB, Duyckaerts C, Agid Y. Striosomes and extrastriosomal matrix contain different amounts of immunoreactive choline acetyltransferase in the human striatum. Neurosci Lett. 1989;96:145-50.
59. Oder W, Grimm G, Kollegger H, Ferenci P, Schneider B, Deecke L. Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases. J Neurol. 1991;238:281-7.