Subclinical neurological involvement does not develop if Wilson's disease is treated early (311 views visite)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2016 Mar; 24: 15-19.
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Paper type Tipo di articolo: Journal Article,
Impact factor: 4.484, 5-year impact factor Impact factor a 5 anni: 4.38
Url: https://www2.scopus.com/inward/record.uri?eid=2-s2.0-84958877576&partnerID=40&md5=dadf9e569ef8639b3e06667bdeb94920
Keywords Parole chiave: Neurological Diagnostic Techniques, Outcome, Therapy, Wilson, S Disease,
Affiliations Affiliazioni:
*** IBB - CNR ***
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Italy., Department of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, Italy., Institute of Biostructure and Bioimaging, National Research Council (CNR), Naples, Italy., Department of Translational Medical Sciences, Section of Internal Medicine, University of Naples Federico II, Italy., Department of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, Italy. Electronic address: riorio@unina.it.,
References Riferimenti:
Ala, A., Walker, A.P., Ashkan, K., Dooley, J.S., Schilsky, M.L., Wilson's disease (2007) Lancet, 369, pp. 397-40
Kinnier Wilson, S.A., Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver (1912) Brain, 34, pp. 295-509
Brewer, G.J., Dick, R.D., Johnson, V.D., Brunberg, J.A., Kluin, K.J., Fink, J.K., Treatment of Wilson's disease with zinc: XV long-term follow-up studies (1998) J. Lab. Clin. Med., 132, pp. 264-278
Iorio, R., D'Ambrosi, M., Marcellini, M., Barbera, C., Maggiore, G., Zancan, L., Serum transaminases in children with Wilson's disease (2004) J. Pediatr. Gastroenterol. Nutr., 39, pp. 331-336
Dziezyc, K., Karliński, M., Litwin, T., Członkowska, A., Compliant treatment with anti-copper agents prevents clinically overt Wilson's disease in pre-symptomatic patients (2014) Eur. J. Neurol., 21, pp. 332-337
Schilsky, M.L., Long-term outcome for Wilson disease: 85% good (2014) Clin. Gastroenterol. Hepatol., 12, pp. 690-691
Bruha, R., Marecek, Z., Pospisilova, L., Nevsimalova, S., Vitek, L., Martasek, P., Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation (2011) Liver Int., 31, pp. 83-91
Ranucci, G., Di Dato, F., Spagnuolo, M.I., Vajro, P., Iorio, R., Zinc monotherapy is effective in Wilson's disease patients with mild liver disease diagnosed in childhood: a retrospective study (2014) Orphanet J. Rare Dis., 9, p. 41
Nicastro, E., Ranucci, G., Vajro, P., Vegnente, A., Iorio, R., Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease (2010) Hepatology, 52, pp. 1948-1956
Aggarwal, A., Aggarwal, N., Nagral, A., Jankharia, G., Bhatt, M., A novel Global Assessment Scale for Wilson's Disease (GAS for WD) (2009) Mov. Disord., 24, pp. 509-518
EASL clinical practice guidelines: Wilson's disease (2012) J. Hepatol., 56, pp. 671-685
Roberts, E.A., Schilsky, M.L., American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update (2008) Hepatology, 47, pp. 2089-2111
Di Lazzaro, V., Manganelli, F., Dileone, M., Notturno, F., Esposito, M., Capasso, M., The effects of prolonged cathodal direct current stimulation on the excitatory and inhibitory circuits of theipsilateral and contralateral motor cortex (2012) J. Neural Transm., 119, pp. 1499-1506
Dubbioso, R., Moretta, P., Manganelli, F., Fiorillo, C., Iodice, R., Trojano, L., Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy (2012) J. Neurol., 259, pp. 833-837
Beck, A.T., Ward, C.H., Mendelson, M., Mock, J., Erbaugh, J., An inventory for measuring depression (1961) Arch. Gen. Psychiatry, 4, pp. 561-571
Cummings, J.L., Mega, M., Gray, K., Rosenberg-Thompson, S., Carusi, D.A., Gornbein, J., The Neuropsychiatric Inventory: comprehensive assessment of psychopathology in dementia (1994) Neurology, 44, pp. 2308-2314
Patton, J.H., Stanford, M.S., Barratt, E.S., Factor structure of the Barratt impulsiveness scale (1995) J. Clin. Psychol., 51, pp. 768-774
Perretti, A., Pellecchia, M.T., Lanzillo, B., Campanella, G., Santoro, L., Excitatory and inhibitory mechanisms in Wilson's disease: investigation with magnetic motor cortex stimulation (2001) J. Neurol. Sci., 192, pp. 35-40
Jhunjhunwala, K., Prashanth, D.K., Netravathi, M., Nagaraju, B.C., Pal, P.K., Alterations of cortical excitability and central motor conduction time in Wilson's disease (2013) Neurosci. Lett., 553, pp. 90-94
McGee, T.P., Houston, C.M., Brickley, S.G., Copper block of extrasynaptic GABAA receptors in the mature cerebellum and striatum (2013) J. Neurosci., 33, pp. 13431-13435
Tecchio, F., Assenza, G., Zappasodi, F., Mariani, S., Salustri, C., Squitti, R., Glutamate-mediated primary somatosensory cortex excitability correlated with circulating copper and ceruloplasmin (2011) Int. J. Alzheimers Dis., 2011, p. 292593
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2016 Mar; 24: 15-19.
Export to Esporta in BibTeX Export to Esporta in EndNote
Paper type Tipo di articolo: Journal Article,
Impact factor: 4.484, 5-year impact factor Impact factor a 5 anni: 4.38
Url: https://www2.scopus.com/inward/record.uri?eid=2-s2.0-84958877576&partnerID=40&md5=dadf9e569ef8639b3e06667bdeb94920
Keywords Parole chiave: Neurological Diagnostic Techniques, Outcome, Therapy, Wilson, S Disease,
Affiliations Affiliazioni:
*** IBB - CNR ***
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Italy., Department of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, Italy., Institute of Biostructure and Bioimaging, National Research Council (CNR), Naples, Italy., Department of Translational Medical Sciences, Section of Internal Medicine, University of Naples Federico II, Italy., Department of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, Italy. Electronic address: riorio@unina.it.,
References Riferimenti:
Ala, A., Walker, A.P., Ashkan, K., Dooley, J.S., Schilsky, M.L., Wilson's disease (2007) Lancet, 369, pp. 397-40
Kinnier Wilson, S.A., Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver (1912) Brain, 34, pp. 295-509
Brewer, G.J., Dick, R.D., Johnson, V.D., Brunberg, J.A., Kluin, K.J., Fink, J.K., Treatment of Wilson's disease with zinc: XV long-term follow-up studies (1998) J. Lab. Clin. Med., 132, pp. 264-278
Iorio, R., D'Ambrosi, M., Marcellini, M., Barbera, C., Maggiore, G., Zancan, L., Serum transaminases in children with Wilson's disease (2004) J. Pediatr. Gastroenterol. Nutr., 39, pp. 331-336
Dziezyc, K., Karliński, M., Litwin, T., Członkowska, A., Compliant treatment with anti-copper agents prevents clinically overt Wilson's disease in pre-symptomatic patients (2014) Eur. J. Neurol., 21, pp. 332-337
Schilsky, M.L., Long-term outcome for Wilson disease: 85% good (2014) Clin. Gastroenterol. Hepatol., 12, pp. 690-691
Bruha, R., Marecek, Z., Pospisilova, L., Nevsimalova, S., Vitek, L., Martasek, P., Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation (2011) Liver Int., 31, pp. 83-91
Ranucci, G., Di Dato, F., Spagnuolo, M.I., Vajro, P., Iorio, R., Zinc monotherapy is effective in Wilson's disease patients with mild liver disease diagnosed in childhood: a retrospective study (2014) Orphanet J. Rare Dis., 9, p. 41
Nicastro, E., Ranucci, G., Vajro, P., Vegnente, A., Iorio, R., Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease (2010) Hepatology, 52, pp. 1948-1956
Aggarwal, A., Aggarwal, N., Nagral, A., Jankharia, G., Bhatt, M., A novel Global Assessment Scale for Wilson's Disease (GAS for WD) (2009) Mov. Disord., 24, pp. 509-518
EASL clinical practice guidelines: Wilson's disease (2012) J. Hepatol., 56, pp. 671-685
Roberts, E.A., Schilsky, M.L., American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update (2008) Hepatology, 47, pp. 2089-2111
Di Lazzaro, V., Manganelli, F., Dileone, M., Notturno, F., Esposito, M., Capasso, M., The effects of prolonged cathodal direct current stimulation on the excitatory and inhibitory circuits of theipsilateral and contralateral motor cortex (2012) J. Neural Transm., 119, pp. 1499-1506
Dubbioso, R., Moretta, P., Manganelli, F., Fiorillo, C., Iodice, R., Trojano, L., Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy (2012) J. Neurol., 259, pp. 833-837
Beck, A.T., Ward, C.H., Mendelson, M., Mock, J., Erbaugh, J., An inventory for measuring depression (1961) Arch. Gen. Psychiatry, 4, pp. 561-571
Cummings, J.L., Mega, M., Gray, K., Rosenberg-Thompson, S., Carusi, D.A., Gornbein, J., The Neuropsychiatric Inventory: comprehensive assessment of psychopathology in dementia (1994) Neurology, 44, pp. 2308-2314
Patton, J.H., Stanford, M.S., Barratt, E.S., Factor structure of the Barratt impulsiveness scale (1995) J. Clin. Psychol., 51, pp. 768-774
Perretti, A., Pellecchia, M.T., Lanzillo, B., Campanella, G., Santoro, L., Excitatory and inhibitory mechanisms in Wilson's disease: investigation with magnetic motor cortex stimulation (2001) J. Neurol. Sci., 192, pp. 35-40
Jhunjhunwala, K., Prashanth, D.K., Netravathi, M., Nagaraju, B.C., Pal, P.K., Alterations of cortical excitability and central motor conduction time in Wilson's disease (2013) Neurosci. Lett., 553, pp. 90-94
McGee, T.P., Houston, C.M., Brickley, S.G., Copper block of extrasynaptic GABAA receptors in the mature cerebellum and striatum (2013) J. Neurosci., 33, pp. 13431-13435
Tecchio, F., Assenza, G., Zappasodi, F., Mariani, S., Salustri, C., Squitti, R., Glutamate-mediated primary somatosensory cortex excitability correlated with circulating copper and ceruloplasmin (2011) Int. J. Alzheimers Dis., 2011, p. 292593
Subclinical neurological involvement does not develop if Wilson's disease is treated early
Background & aims: Wilson's disease (WD) is a genetic disorder of copper metabolism causing dysfunctions of various organs, mostly the liver and brain. If untreated, WD is fatal, but early treatment results in a good prognosis, although the long-term neurological outcome has not yet been clarified. To address this issue, we evaluated the neurological status of early-treated WD patients without overt nervous system impairment using neurophysiological, neuropsychological and neuroimaging procedures at least 10 years after treatment onset. Methods: Thirty-eight WD patients (18 females, aged 24.47 ± 7.50 years), who received an early diagnosis (in presymptomatic or mild/moderate liver disease stages without neurological involvement) and prompt treatment, were clinically evaluated with the Global Assessment Scale. Presentation was hepatic in 36 subjects (95%), while 2 patients (5%) were presymptomatic. A neurophysiological study was performed to explore the central motor conduction time of the upper and lower limbs, and motor cortex excitability using single pulses and paired-pulse transcranial magnetic stimulation. Neuroimages were obtained with brain magnetic resonance scans. Cognitive abilities, and psychiatric and behavioral disturbances were evaluated with neuropsychological tests. Results: Patients were undergoing treatment with penicillamine (7 patients) or zinc salts (31 patients) with good adherence. They did not present any neurological signs at clinical evaluation or at specific scale of impairment, the mean Global Assessment Scale score was 0.3 ± 0.7. Magnetic resonance imaging, transcranial magnetic stimulation studies and neuropsychological/neuropsychiatric assessment ruled out subclinical involvement. Conclusions: This study suggests that early diagnosis and treatment of WD may prevent the onset of neurologic damage, even at subclinical level. © 2016 Elsevier Ltd.
Background & aims: Wilson's disease (WD) is a genetic disorder of copper metabolism causing dysfunctions of various organs, mostly the liver and brain. If untreated, WD is fatal, but early treatment results in a good prognosis, although the long-term neurological outcome has not yet been clarified. To address this issue, we evaluated the neurological status of early-treated WD patients without overt nervous system impairment using neurophysiological, neuropsychological and neuroimaging procedures at least 10 years after treatment onset. Methods: Thirty-eight WD patients (18 females, aged 24.47 ± 7.50 years), who received an early diagnosis (in presymptomatic or mild/moderate liver disease stages without neurological involvement) and prompt treatment, were clinically evaluated with the Global Assessment Scale. Presentation was hepatic in 36 subjects (95%), while 2 patients (5%) were presymptomatic. A neurophysiological study was performed to explore the central motor conduction time of the upper and lower limbs, and motor cortex excitability using single pulses and paired-pulse transcranial magnetic stimulation. Neuroimages were obtained with brain magnetic resonance scans. Cognitive abilities, and psychiatric and behavioral disturbances were evaluated with neuropsychological tests. Results: Patients were undergoing treatment with penicillamine (7 patients) or zinc salts (31 patients) with good adherence. They did not present any neurological signs at clinical evaluation or at specific scale of impairment, the mean Global Assessment Scale score was 0.3 ± 0.7. Magnetic resonance imaging, transcranial magnetic stimulation studies and neuropsychological/neuropsychiatric assessment ruled out subclinical involvement. Conclusions: This study suggests that early diagnosis and treatment of WD may prevent the onset of neurologic damage, even at subclinical level. © 2016 Elsevier Ltd.
Subclinical neurological involvement does not develop if Wilson's disease is treated early
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Subclinical neurological involvement does not develop if Wilson's disease is treated early
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