Extensive cortico-subcortical lesions in Wilson's disease: Clinico-pathological study of two cases

Acta Neuropathologica

Volumn 110, Issue 5, 2005, Pages 451-458

  Mikol, Jacqueline ^a,c   Vital, Claude ^b   Wassef, Michel ^a   Chappuis, Philippe ^c   Poupon, Joël ^c   Lecharpentier, Monique ^a   Woimant, France ^c  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b UNIVERSITÉ DE BORDEAUX   (France)

^c HÔPITAL LARIBOISIÈRE   (France)

Author keywords

ATPase7B; Copper; Mitochondria; Whitematter necrosis; Wilson's disease

Indexed keywords

COPPER; PENICILLAMINE; THIAMINE; ZINC SULFATE;

ADULT; ARTICLE; ASTROCYTE; BRAIN CORTEX LESION; CASE REPORT; CLINICAL FEATURE; CLINICAL PROTOCOL; COMPUTER ASSISTED TOMOGRAPHY; COPPER METABOLISM; DEATH; DISEASE EXACERBATION; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PYRAMIDAL SIGN; WHITE MATTER; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADULT; ASTROCYTES; CATION TRANSPORT PROTEINS; CEREBRAL CORTEX; COPPER; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; LIVER; MACROPHAGES; MALE; METALLOTHIONEIN; PEDIGREE; PUTAMEN;

EID: 27944450105     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-005-1061-1     Document Type: Article

References (45)

1. Aisen AM, Martel W, Gabrielsen TO, Glazer GM, Brewer G, Young AB, Hill G (1985) Wilson disease of the brain: MR imaging. Radiology 157:137-141 4034959
2. Alajouanine T, Bertrand I, Boudin G, Pepin B (1955) Etude anatomo-clinique, biologique et chimique d'un cas de pseudo-sclérose de Westphal-Strumpell. Rev Neurol (Paris) 93:701-729
3. Anton G 1908 cited by Finlayson and Superville
4. Anzil AP, Herrlinger H, Blinzinger K, Heldrich A (1974) Ultrastructure of brain and nerve biopsy tissue in Wilson disease. Arch Neurol 31:94-100 4834970
5. Brewer GJ, Terry CA, Aisen AM, Hill GM (1987) Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol 44:490-493 3579660
6. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5:327-337 10.1038/ng1293-327
7. Bush VJ, Moyer TP, Batts KP, Parisi JE (1995) Essential and toxic element concentrations in fresh and formalin-fixed human autopsy tissues. Clin Chem 41:284-294 7874782
8. Butterworth RF (1992) Pathogenesis and treatment of portal-systemic encephalopathy: An update. Dig Dis Sci 37:321-327 10.1007/BF01307722
9. Butterworth RF (2002) Pathophysiology of hepatic encephalopathy: A new look at ammonia. Metab Brain Dis 17:221-227 10.1023/A:1021989230535
10. Cavanagh JB, Harding BN (1994) Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain 117:1357-1376 7820572
11. Chu NS (1989) Clinical, CT and evoked potential manifestations in Wilson's disease with cerebral white matter involvement. Clin Neurol Neurosurg 91:45-51 2538281
12. Cumings JN (1949) The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration. Brain 71:410-415
13. Duc HH, Hefter H, Stremmel W, Castaneda-Guillot C, Hernandez Hernandez A, Cox DW, Auburger G (1998) His1069Gln and six novel Wilson disease mutations: Analysis of relevance for early diagnosis and phenotype. Eur J Hum Genet 6:616-623 9887381
14. Ferenci P (1999) Wilson's disease. Ital J Gastroenterol Hepatol 31:416-425 10470603
15. Finlayson MH, Superville B (1981) Distribution of cerebral lesions in acquired hepatocerebral degeneration. Brain 104:79-95 7470846
16. Gitlin JD (2003) Wilson disease. Gastroenterology 125:1868-1877 14724838
17. Gu M, Cooper JM, Butler P, Walker AP, Mistry PK, Dooley JS, Schapira AH (2000) Oxidative-phosphorylation defects in liver of patients with Wilson's disease. Lancet 356:469-474 10.1016/S0140-6736(00)02556-3
18. Hall H (1921) La dégénérescence hépato-lenticulaire: Maladie de Wilson - Pseudo-sclérose. Masson, Paris
19. Hermann W, Caca K, Eggers B, Villmann T, Clark D, Berr F, Wagner A (2002) Genotype correlation with fine motor symptoms in patients with Wilson's disease. Eur Neurol 48:97-101 10.1159/000062992
20. Homen EA 1892 cited by Finlayson and Superville
21. Horoupian DS, Sternlieb I, Scheinberg IH (1988) Neuropathological findings in penicillamine-treated patients with Wilson's disease. Clin Neuropathol 7:62-67 3390974
22. Huang CC, Chu NS (1992) Resolution of cerebral white matter lesions following long-term penicillamine therapy for Wilson's disease: Report of a case. J Formos Med Assoc 91:627-629 1358351
23. Ishino H, Mii T, Hayashi Y, Saito A, Otsuki S (1972) A case of Wilson's disease with enormous cavity formation of cerebral white matter. Neurology 22:905-909 4673375
24. Konowalow N (1941) Histopathologie der hepato-lentikulären Degeneration. Z Ges Neurol Psychiatr 171:200-228
25. Lawler GA, Pennock JM, Steiner RE, Jenkins WJ, Sherlock S, Young IR (1983) Nuclear magnetic resonance (NMR) imaging in Wilson disease. J Comput Assist Tomogr 7:1-8 6826826
26. Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216-221 14874135
27. Loudianos G, Dessi V, Lovicu M, Angius A, Nurchi A, Sturniolo GC, Marcellini M, Zancan L, Bragetti P, Akar N, Yagci R, Vegnente A, Cao A, Pirastu M (1998) Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. Hum Mutat 12:89-94 10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.0.CO;2-G
28. Maier-Dobersberger T, Ferenci P, Polli C, Balac P, Dienes HP, Kaserer K, Datz C, Vogel W, Gangl A (1997) Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction. Ann Intern Med 127:21-26 9214248
29. Nayrac P, Graux P, Van Bogaert L, Rabache R (1957) Etude biochimique et histologique sur une fratrie wilsonienne d'une stricte homotypie anatomoclinique. Rev Neurol (Paris) 96:196-215
30. Richter R (1948) The pallial component in hepato-lenticular degeneration. J Neuropathol Exp Neurol 7:1-18
31. Schulman S (1968) Wilson's disease. In: Minckler J (ed) Pathology of the nervous system, vol 1. McGraw-Hill, New York, pp 1139-1162
32. Schulman S, Barbeau A (1963) Wilson's disease: A case with almost total loss of white matter. J Neuropathol Exp Neurol 22:105-119 13987179
33. Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Anneren G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 61:317-328 9311736
34. Sheline CT, Choi EH, Kim-Han JS, Dugan LL, Choi DW (2002) Cofactors of mitochondrial enzymes attenuate copper-induced death in vitro and in vivo. Ann Neurol 52:195-204 10.1002/ana.10276
35. Shimoji A, Miyakawa T, Watanabe K, Yamashita K, Katsuragi S, Kabashima K (1987) Wilson's disease with extensive degeneration of cerebral white matter and cortex. Jpn J Psychiatry Neurol 41:709-717 3453418
36. Sparaco M, Bonilla E, DiMauro S, Powers JM (1993) Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects. J Neuropathol Exp Neurol 52:1-10 8426185
37. Spielmeyer W (1920) Die histopathologische Zusammenhärigkeit der Wilsonschen Krankheit. Z Ges Neurol Psychiatr 57:312-351
38. Starosta-Rubinstein S, Young AB, Kluin K, Hill G, Aisen AM, Gabrielsen T, Brewer GJ (1987) Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging. Arch Neurol 44:365-370 3827691
39. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344-350 10.1038/ng1293-344
40. Thomas GR, Roberts EA, Walshe JM, Cox DW (1995) Haplotypes and mutations in Wilson disease. Am J Hum Genet 56:1315-1319 7762553
41. 2-terminal domain of the Wilson's disease protein and regulates its catalytic activity. J Biol Chem 277:27953-27959 10.1074/jbc.M203845200
42. Wang XF, Cynader MS (2001) Pyruvate released by astrocytes protects neurons from copper-catalyzed cysteine neurotoxicity. J Neurosci 21:3322-3331 11331361
43. White AR, Multhaup G, Maher F, Bellingham S, Camakaris J, Zheng H, Bush AI, Beyreuther K, Masters CL, Cappai R (1999) The Alzheimer's disease amyloid precursor protein modulates copper-induced toxicity and oxidative stress in primary neuronal cultures. J Neurosci 19:9170-9179 10531420
44. Wilson S (1912) Progressive lenticular degeneration:a familial nervous disease associated with cirrhosis of the liver. Brain 34:295-507
45. Yoshi F, Takahashi W, Shinohara Y 1996 A Wilson's disease patient with prominent cerebral white matter lessions: Five-year follow-up by MRI. Eur Neurol 36 392-393