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Volumn 57, Issue 5, 2009, Pages 528-540

Wilson's disease: An Indian perspective

Author keywords

India; MRI; Pathology; Wilson's disease

Indexed keywords

DIMERCAPROL; PENICILLAMINE; POTASSIUM DERIVATIVE; POTASSIUM SULFIDE; TETRATHIOMOLYBDATE AMMONIUM; TRIENTINE; UNCLASSIFIED DRUG; WILSON DISEASE PROTEIN; ZINC; ZINC SULFATE;

EID: 72849119554     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.57789     Document Type: Review
Times cited : (38)

References (82)
  • 2
    • 84963072124 scopus 로고
    • Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
    • Wilson SA. Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Brain 1912;34:295-507.
    • (1912) Brain , vol.34 , pp. 295-507
    • Wilson, S.A.1
  • 3
    • 33644959308 scopus 로고    scopus 로고
    • History of Wilson's disease: 1912 to 2000
    • Walshe JM. History of Wilson's disease: 1912 to 2000. Mov Disord 2006;21:142-147
    • (2006) Mov Disord , vol.21 , pp. 142-147
    • Walshe, J.M.1
  • 4
    • 84963072124 scopus 로고
    • Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
    • by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London)
    • Compston A. Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912;34:295-509.
    • (1912) Brain , vol.34 , pp. 295-509
    • Compston, A.1
  • 5
    • 70350461530 scopus 로고    scopus 로고
    • Brain 2009;132:1997-2001.
    • (2009) Brain , vol.132 , pp. 1997-2001
  • 6
    • 0042364168 scopus 로고
    • Wilson's disease in four Indian families
    • (Bombay)
    • Wadia NH, Dastur DK. Wilson's disease in four Indian families. Neurology (Bombay) 1963;11:1.
    • (1963) Neurology , vol.11 , pp. 1
    • Wadia, N.H.1    Dastur, D.K.2
  • 7
    • 0014237314 scopus 로고
    • Wilson's disease in India. I. Geographic, genetic, and clinical aspects in 16 families
    • Dastur DK, Manghani DK, Wadia NH. Wilson's disease in India. I. Geographic, genetic, and clinical aspects in 16 families. Neurology 1968;8:21-31.
    • (1968) Neurology , vol.8 , pp. 21-31
    • Dastur, D.K.1    Manghani, D.K.2    Wadia, N.H.3
  • 9
    • 0027247991 scopus 로고
    • Geographic variations in Wilson's disease
    • Chu NS, Hung TP. Geographic variations in Wilson's disease. J Neurol Sci 1993;117:1-7.
    • (1993) J Neurol Sci , vol.117 , pp. 1-7
    • Chu, N.S.1    Hung, T.P.2
  • 10
    • 0342869647 scopus 로고
    • Genetic studies of Wilson's disease in Japan
    • Arima M, Sano I. Genetic studies of Wilson's disease in Japan. Birth defects 1968;4:54-59
    • (1968) Birth Defects , vol.4 , pp. 54-59
    • Arima, M.1    Sano, I.2
  • 12
    • 0033291819 scopus 로고    scopus 로고
    • Metabolic liver diseases in childhood: Indian scenario
    • Pediatric Liver Study Group of India
    • Pediatric Liver Study Group of India. Metabolic liver diseases in childhood: Indian scenario. Indian J Pediatr 1999;66: S97-103.
    • (1999) Indian J Pediatr , vol.66
  • 14
    • 0032105707 scopus 로고    scopus 로고
    • Wilson's disease: Clinical and radiological features
    • Jha SK, Behari M, Ahuja GK. Wilson's disease: Clinical and radiological features. J Assoc Physicians India 1998;46:602-605
    • (1998) J Assoc Physicians India , vol.46 , pp. 602-605
    • Jha, S.K.1    Behari, M.2    Ahuja, G.K.3
  • 16
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • 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;5:327-337
    • (1993) Nat Genet , vol.5 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3    Forbes, J.R.4    Cox, D.W.5
  • 17
    • 0027364961 scopus 로고
    • The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
    • Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993;5:344-350
    • (1993) Nat Genet , vol.5 , pp. 344-350
    • Tanzi, R.E.1    Petrukhin, K.2    Chernov, I.3    Pellequer, J.L.4    Wasco, W.5    Ross, B.6
  • 18
    • 0027431996 scopus 로고
    • Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
    • Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993;197:271-277
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 271-277
    • Yamaguchi, Y.1    Heiny, M.E.2    Gitlin, J.D.3
  • 19
    • 34548304538 scopus 로고    scopus 로고
    • Introducing single-nucleotide polymorphism markers in the diagnosis of Wilson disease
    • Schmidt HH. Introducing single-nucleotide polymorphism markers in the diagnosis of Wilson disease. Clin Chem 2007;53:1568-1569
    • (2007) Clin Chem , vol.53 , pp. 1568-1569
    • Schmidt, H.H.1
  • 20
    • 17644379343 scopus 로고    scopus 로고
    • Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: Genotype
    • Kumar S, Thapa BR, Kaur G, Prasad R. Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: Genotype. Clin Genet 2005;67:443-445
    • (2005) Clin Genet , vol.67 , pp. 443-445
    • Kumar, S.1    Thapa, B.R.2    Kaur, G.3    Prasad, R.4
  • 21
    • 33646827879 scopus 로고    scopus 로고
    • Molecular pathogenesis of Wilson disease: Haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients
    • Gupta A, Aikath D, Neogi R, Datta S, Basu K, Maity B, et al. Molecular pathogenesis of Wilson disease: Haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Hum Genet 2005;118:49-57.
    • (2005) Hum Genet , vol.118 , pp. 49-57
    • Gupta, A.1    Aikath, D.2    Neogi, R.3    Datta, S.4    Basu, K.5    Maity, B.6
  • 22
    • 33947513398 scopus 로고    scopus 로고
    • ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients
    • Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Chandy M, et al. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients. Indian J Gastroenterol 2006;25:277-282
    • (2006) Indian J Gastroenterol , vol.25 , pp. 277-282
    • Santhosh, S.1    Shaji, R.V.2    Eapen, C.E.3    Jayanthi, V.4    Malathi, S.5    Chandy, M.6
  • 27
  • 29
    • 0013802577 scopus 로고
    • Wilson's disease in an Indian boy
    • Dikshit SK. Wilson's disease in an Indian boy. J Assoc Physicians India 1965;13:723-725
    • (1965) J Assoc Physicians India , vol.13 , pp. 723-725
    • Dikshit, S.K.1
  • 30
    • 0014250980 scopus 로고
    • Wilson's disease in India. II. Biochemical and pathogenetic considerations in patients, parents, and siblings
    • Manghani DK, Dastur DK. Wilson's disease in India. II. Biochemical and pathogenetic considerations in patients, parents, and siblings. Neurology 1968;18:117-126
    • (1968) Neurology , vol.18 , pp. 117-126
    • Manghani, D.K.1    Dastur, D.K.2
  • 31
    • 0022568610 scopus 로고
    • Dangers of non-compliance in Wilson's disease
    • Walshe JM, Dixon AK. Dangers of non-compliance in Wilson's disease. Lancet 1986;1:845-847
    • (1986) Lancet , vol.1 , pp. 845-847
    • Walshe, J.M.1    Dixon, A.K.2
  • 37
    • 0028542035 scopus 로고
    • Changing pattern of chronic liver disease (CLD) in India
    • Bhave S, Bavdekar A, Pandit A. Changing pattern of chronic liver disease (CLD) in India. Indian J Pediatr 1994;61:675-682
    • (1994) Indian J Pediatr , vol.61 , pp. 675-682
    • Bhave, S.1    Bavdekar, A.2    Pandit, A.3
  • 39
    • 0019774623 scopus 로고
    • Dopamine betahydroxylase inhibition in a patient with Wilson's disease and manic symptoms
    • Pandey RS, Sreenivas KN, Patil NM, Swamy HS. Dopamine betahydroxylase inhibition in a patient with Wilson's disease and manic symptoms. Am J Psychiatry 1981;138:1628-1629
    • (1981) Am J Psychiatry , vol.138 , pp. 1628-1629
    • Pandey, R.S.1    Sreenivas, K.N.2    Patil, N.M.3    Swamy, H.S.4
  • 40
    • 0027402718 scopus 로고
    • Wilson's disease and catatonia
    • Davis EJ, Borde M. Wilson's disease and catatonia. Br J Psychiatry 1993;162:256-259
    • (1993) Br J Psychiatry , vol.162 , pp. 256-259
    • Davis, E.J.1    Borde, M.2
  • 44
    • 0025409807 scopus 로고
    • Wilson's disease presenting with refractory rickets
    • Kabra SK, Bagga A, Malkani I. Wilson's disease presenting with refractory rickets. Indian Pediatr 1990;27:395-397
    • (1990) Indian Pediatr , vol.27 , pp. 395-397
    • Kabra, S.K.1    Bagga, A.2    Malkani, I.3
  • 45
    • 59149096725 scopus 로고    scopus 로고
    • Acute Wilson disease associated with e betathalassemia
    • Thapa R, Mukherjee K. Acute Wilson disease associated with E betathalassemia. J Pediatr Hematol Oncol 2008;30:925-927
    • (2008) J Pediatr Hematol Oncol , vol.30 , pp. 925-927
    • Thapa, R.1    Mukherjee, K.2
  • 47
    • 0032443733 scopus 로고    scopus 로고
    • A critical evaluation of copper metabolism in Indian Wilson's disease children with special reference to their phenotypes and relatives
    • Prasad R, Kaur G, Walia BN. A critical evaluation of copper metabolism in Indian Wilson's disease children with special reference to their phenotypes and relatives. Biol Trace Elem Res 1998;65:153-165
    • (1998) Biol Trace Elem Res , vol.65 , pp. 153-165
    • Prasad, R.1    Kaur, G.2    Walia, B.N.3
  • 49
    • 0024600348 scopus 로고
    • Visual and brain stem auditory evoked responses in Wilson's disease
    • Satishchandra P, Swamy HS. Visual and brain stem auditory evoked responses in Wilson's disease. Acta Neurol Scand 1989;79:108-113
    • (1989) Acta Neurol Scand , vol.79 , pp. 108-113
    • Satishchandra, P.1    Swamy, H.S.2
  • 50
    • 34247113694 scopus 로고    scopus 로고
    • A study of clinical, MRI and multimodality evoked potentials in neurologic Wilson disease
    • Das M, Misra UK, Kalita J. A study of clinical, MRI and multimodality evoked potentials in neurologic Wilson disease. Eur J Neurol 2007;14:498-504.
    • (2007) Eur J Neurol , vol.14 , pp. 498-504
    • Das, M.1    Misra, U.K.2    Kalita, J.3
  • 51
    • 0034192938 scopus 로고    scopus 로고
    • Visual pathway abnormalities Wilson's disease: An electrophysiological study using electroretinography and visual evoked potentials
    • Satishchandra P, Ravishankar Naik K. Visual pathway abnormalities Wilson's disease: An electrophysiological study using electroretinography and visual evoked potentials. J Neurol Sci 2000;176:13-20.
    • (2000) J Neurol Sci , vol.176 , pp. 13-20
    • Satishchandra, P.1    Ravishankar Naik, K.2
  • 54
    • 22144497700 scopus 로고    scopus 로고
    • Severe autonomic dysfunction as a presenting feature of Wilson's disease
    • Kumar S. Severe autonomic dysfunction as a presenting feature of Wilson's disease. J Postgrad Med 2005;51:75-76
    • (2005) J Postgrad Med , vol.51 , pp. 75-76
    • Kumar, S.1
  • 55
    • 0023091760 scopus 로고
    • Cardiac Wilson's disease
    • Kuan P. Cardiac Wilson's disease. Chest 1987;91:579-583
    • (1987) Chest , vol.91 , pp. 579-583
    • Kuan, P.1
  • 60
    • 34748889486 scopus 로고    scopus 로고
    • Central pontine signal changes in Wilson's disease: Distinct MRI morphology and sequential changes with de-coppering therapy
    • Sinha S, Taly AB, Ravishankar S, Prashanth LK, Vasudev MK. Central pontine signal changes in Wilson's disease: Distinct MRI morphology and sequential changes with de-coppering therapy. J Neuroimaging 2007;17:286-291
    • (2007) J Neuroimaging , vol.17 , pp. 286-291
    • Sinha, S.1    Taly, A.B.2    Ravishankar, S.3    Prashanth, L.K.4    Vasudev, M.K.5
  • 63
    • 55949137133 scopus 로고    scopus 로고
    • 'Face of the giant panda' sign in Wilson's disease
    • Thapa R, Ghosh A. 'Face of the giant panda' sign in Wilson's disease. Pediatr Radiol 2008;38:1355.
    • (2008) Pediatr Radiol , vol.38 , pp. 1355
    • Thapa, R.1    Ghosh, A.2
  • 64
    • 64049104631 scopus 로고    scopus 로고
    • Teaching NeuroImages: Face of the giant panda and her cub: MRI correlates of Wilson disease
    • Shivakumar R, Thomas SV. Teaching NeuroImages: Face of the giant panda and her cub: MRI correlates of Wilson disease. Neurology 2009;72: E50.
    • (2009) Neurology , vol.72
    • Shivakumar, R.1    Thomas, S.V.2
  • 65
    • 72849120656 scopus 로고    scopus 로고
    • Do MRI Features distinguish Wilson's disease from other early onset extrapyramidal disorders? An analysis of 100 cases
    • in press
    • Prashanth LK, Sinha S, Taly AB, Vasudev MK. Do MRI Features distinguish Wilson's disease from other early onset extrapyramidal disorders? An analysis of 100 cases. Movement Disorders 2009 (in press).
    • (2009) Movement Disorders
    • Prashanth, L.K.1    Sinha, S.2    Taly, A.B.3    Vasudev, M.K.4
  • 67
  • 70
    • 36549056479 scopus 로고    scopus 로고
    • Withdrawal of penicillamine from zinc sulphatepenicillamine maintenance therapy in Wilson's disease: Promising, safe and cheap
    • Sinha S, Taly AB. Withdrawal of penicillamine from zinc sulphatepenicillamine maintenance therapy in Wilson's disease: Promising, safe and cheap. J Neurol Sci 2008;264:129-132
    • (2008) J Neurol Sci , vol.264 , pp. 129-132
    • Sinha, S.1    Taly, A.B.2
  • 71
    • 0023178114 scopus 로고
    • Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy
    • Brewer GJ, Terry CA, Aisen AM, Hill GM. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol 1987;44:490-493
    • (1987) Arch Neurol , vol.44 , pp. 490-493
    • Brewer, G.J.1    Terry, C.A.2    Aisen, A.M.3    Hill, G.M.4
  • 72
    • 0033139752 scopus 로고    scopus 로고
    • Generalized myasthenia gravis following use of D-pencillamine in Wilson's disease
    • Narayanan CS, Behari M. Generalized myasthenia gravis following use of D-pencillamine in Wilson's disease. J Assoc Physicians India 1999;47:648.
    • (1999) J Assoc Physicians India , vol.47 , pp. 648
    • Narayanan, C.S.1    Behari, M.2
  • 75
    • 40349084104 scopus 로고    scopus 로고
    • Failure of prophylactic zinc in Wilson disease
    • Mishra D, Kalra V, Seth R. Failure of prophylactic zinc in Wilson disease. Indian Pediatr 2008;45:151-153
    • (2008) Indian Pediatr , vol.45 , pp. 151-153
    • Mishra, D.1    Kalra, V.2    Seth, R.3
  • 76
    • 0036345082 scopus 로고    scopus 로고
    • Electrical stimulation of the brain in Wilson-Konovalov hepatocerebral dystrophy (a neuromorphological and neurophysiological analysis
    • Starikov AS. Electrical stimulation of the brain in Wilson-Konovalov hepatocerebral dystrophy (a neuromorphological and neurophysiological analysis). Neurosci Behav Physiol 2002;32:255-257
    • (2002) Neurosci Behav Physiol , vol.32 , pp. 255-257
    • Starikov, A.S.1
  • 77
    • 38049027884 scopus 로고    scopus 로고
    • Successful treatment of tremor in Wilson's disease by thalamotomy: A case report
    • Pal PK, Sinha S, Pillai S, Taly AB, Abraham RG. Successful treatment of tremor in Wilson's disease by thalamotomy: A case report. Mov Disord 2007;22:2287-2290
    • (2007) Mov Disord , vol.22 , pp. 2287-2290
    • Pal, P.K.1    Sinha, S.2    Pillai, S.3    Taly, A.B.4    Abraham, R.G.5
  • 78
    • 0346219383 scopus 로고    scopus 로고
    • Successful pregnancies and abortions in symptomatic and asymptomatic Wilson's disease
    • Sinha S, Taly AB, Prashanth LK, Arunodaya GR, Swamy HS. Successful pregnancies and abortions in symptomatic and asymptomatic Wilson's disease. J Neurol Sci 2004;217:37-40.
    • (2004) J Neurol Sci , vol.217 , pp. 37-40
    • Sinha, S.1    Taly, A.B.2    Prashanth, L.K.3    Arunodaya, G.R.4    Swamy, H.S.5
  • 81
    • 26444506853 scopus 로고    scopus 로고
    • Prognostic factors in patients presenting with severe neurological forms of Wilson's disease
    • Prashanth LK, Taly AB, Sinha S, Ravishankar S, Arunodaya GR, Vasudev MK, et al. Prognostic factors in patients presenting with severe neurological forms of Wilson's disease. QJM 2005;98:557-563
    • (2005) QJM , vol.98 , pp. 557-563
    • Prashanth, L.K.1    Taly, A.B.2    Sinha, S.3    Ravishankar, S.4    Arunodaya, G.R.5    Vasudev, M.K.6


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