Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome (82 visite)
Front Neurol (ISSN: 1664-2295linking, 1664-2295print), 2018 Aug 30; 9(AUG): 728-728.
Tipo di articolo: Journal Article,
Impact factor: 3.508, Impact factor a 5 anni: 4.297
Url: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85052805272&doi=10.3389%2ffneur.2018.00728&partnerID=40&md5=cc540862e662a3b94f72f4c8b4e7e944
Parole chiave: Mt-Atp8, Ammonia, Metabolic Encephalopathy, Mitochondria, Valproate, Cytochrome C Oxidase, Lactic Acid, Succinate Dehydrogenase, Valproic Acid, Aged, Article, Brain Cortex Atrophy, Brain Disease, Case Report, Clinical Article, Deterioration, Disease Severity, Dna Sequence, Drowsiness, Drug Dose Titration, Drug Withdrawal, Electroencephalogram, Electron Transport, Enzyme Activity, Epilepsy, Female, Follow Up, Gaze Paralysis, Gene Deletion, Gene Mutation, Genetic Association, Genetic Variability, Human, Human Tissue, Lactate Blood Level, Leukoencephalopathy, Limb Weakness, Mitochondrial Genome, Mt Atp8 Gene, Muscle Biopsy, Muscle Strength, Neurologic Examination, Nuclear Magnetic Resonance Spectroscopy, Single Nucleotide Polymorphism, Treatment Duration, Walking Difficulty,
Affiliazioni:
*** IBB - CNR ***
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Universita degli Studi di Napoli Federico II, Napoli, Italy.
Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
Institute of Biostructure and Bioimaging, National Research Council, Naples, Italy.
Riferimenti:
Galimberti, C.A., Diegoli, M., Sartori, I., Uggetti, C., Brega, A., Tartara, A., Brain pseudo-atrophy and mental regression on valproate and a mitochondrial DNA mutation (2006) Neurology, 67, pp. 1715-171
Nesti, C., Meschini, M.C., Meunier, B., Sacchini, M., Doccini, S., Romano, A., Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy (2015) Hum Mol Genet, 24, pp. 3248-3256
Tomson, T., Battino, D., Perucca, E., Valproic acid after five decades of use in epilepsy: time to reconsider the indications of a time-honoured drug (2016) Lancet Neurol, 15, pp. 210-218
Verrotti, A., Trotta, D., Morgese, G., Chiarelli, F., Valproate-induced hyperammonemic encephalopathy (2002) Metab Brain Dis, 17, pp. 367-373
Gerstner, T., Buesing, D., Longin, E., Bendl, C., Wenzel, D., Scheid, B., Valproic acid induced encephalopathy-19 new cases in Germany from 1994 to 2003-a side effect associated to VPA-therapy not only in young children (2006) Seizure, 15, pp. 443-448
Lewis, C., Deshpande, A., Tesar, G.E., Dale, R., Valproate-induced hyperammonemic encephalopathy: a brief review (2012) Curr Med Res Opin, 28, pp. 1039-1042
Baganz, I., Dross, P.E., Valproic acid-induced hyperammoncmic encephalopathy: MR appearance (1994) Am J Neuroradiol, 15, pp. 1779-1781
Ziyeh, S., Thiel, T., Spreer, J., Klisch, J., Schumacher, M., Valproate-induced encephalopathy: assessment with MR imaging and 1H MR spectroscopy (2002) Epilepsia, 43, pp. 1101-1105
Guerrini, R., Belmonte, A., Canapicchi, R., Casalini, C., Perucca, E., Reversible pseudoatrophy of the brain and mental deterioration associated with valproate treatment (1998) Epilepsia, 39, pp. 27-32
Mock, C.M., Schwetschenau, K.H., Levocarnitine for valproic-acid-induced hyperammonemic encephalopathy (2012) Am J Health Syst Pharm, 69, pp. 35-39
Senior, A.E., Nadanaciva, S., Weber, J., The molecular mechanism of ATP synthesis by F1F0-ATP synthase (2002) Biochim Biophys Acta, 1553, pp. 188-211
Dautant, A., Meier, T., Hahn, A., Tribouillard-Tanvier, D., di Rago, J.P., Kucharczyk, R., ATP Synthase Diseases of Mitochondrial Genetic Origin (2018) Front Physiol, 9, p. 329
Hroudova, J., Fisar, Z., Activities of respiratory chain complexes and citrate synthase influenced by pharmacologically different antidepressants and mood stabilizers (2010) Neuro Endocrinol Lett, 31, pp. 336-342
Luis, P.B., Ruiter, J.P., Aires, C.C., Soveral, G., de Almeida, I.T., Duran, M., Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation (2007) Biochim Biophys Acta, 1767, pp. 1126-1133
Lam, C.W., Lau, C.H., Williams, J.C., Chan, Y.W., Wong, L.J., Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy (1997) Eur J Pediatr, 156, pp. 562-564
Chaudhry, N., Patidar, Y., Puri, V., Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate (2013) J Pediatr Neurosci, 8, pp. 135-137
Bianco, A., Martínez-Romero, I., Bisceglia, L., D'Agruma, L., Favia, P., Ruiz-Pesini, E., Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers (2016) Brain, 139, pp. 1-3
Front Neurol (ISSN: 1664-2295linking, 1664-2295print), 2018 Aug 30; 9(AUG): 728-728.
Tipo di articolo: Journal Article,
Impact factor: 3.508, Impact factor a 5 anni: 4.297
Url: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85052805272&doi=10.3389%2ffneur.2018.00728&partnerID=40&md5=cc540862e662a3b94f72f4c8b4e7e944
Parole chiave: Mt-Atp8, Ammonia, Metabolic Encephalopathy, Mitochondria, Valproate, Cytochrome C Oxidase, Lactic Acid, Succinate Dehydrogenase, Valproic Acid, Aged, Article, Brain Cortex Atrophy, Brain Disease, Case Report, Clinical Article, Deterioration, Disease Severity, Dna Sequence, Drowsiness, Drug Dose Titration, Drug Withdrawal, Electroencephalogram, Electron Transport, Enzyme Activity, Epilepsy, Female, Follow Up, Gaze Paralysis, Gene Deletion, Gene Mutation, Genetic Association, Genetic Variability, Human, Human Tissue, Lactate Blood Level, Leukoencephalopathy, Limb Weakness, Mitochondrial Genome, Mt Atp8 Gene, Muscle Biopsy, Muscle Strength, Neurologic Examination, Nuclear Magnetic Resonance Spectroscopy, Single Nucleotide Polymorphism, Treatment Duration, Walking Difficulty,
Affiliazioni:
*** IBB - CNR ***
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Universita degli Studi di Napoli Federico II, Napoli, Italy.
Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
Institute of Biostructure and Bioimaging, National Research Council, Naples, Italy.
Riferimenti:
Galimberti, C.A., Diegoli, M., Sartori, I., Uggetti, C., Brega, A., Tartara, A., Brain pseudo-atrophy and mental regression on valproate and a mitochondrial DNA mutation (2006) Neurology, 67, pp. 1715-171
Nesti, C., Meschini, M.C., Meunier, B., Sacchini, M., Doccini, S., Romano, A., Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy (2015) Hum Mol Genet, 24, pp. 3248-3256
Tomson, T., Battino, D., Perucca, E., Valproic acid after five decades of use in epilepsy: time to reconsider the indications of a time-honoured drug (2016) Lancet Neurol, 15, pp. 210-218
Verrotti, A., Trotta, D., Morgese, G., Chiarelli, F., Valproate-induced hyperammonemic encephalopathy (2002) Metab Brain Dis, 17, pp. 367-373
Gerstner, T., Buesing, D., Longin, E., Bendl, C., Wenzel, D., Scheid, B., Valproic acid induced encephalopathy-19 new cases in Germany from 1994 to 2003-a side effect associated to VPA-therapy not only in young children (2006) Seizure, 15, pp. 443-448
Lewis, C., Deshpande, A., Tesar, G.E., Dale, R., Valproate-induced hyperammonemic encephalopathy: a brief review (2012) Curr Med Res Opin, 28, pp. 1039-1042
Baganz, I., Dross, P.E., Valproic acid-induced hyperammoncmic encephalopathy: MR appearance (1994) Am J Neuroradiol, 15, pp. 1779-1781
Ziyeh, S., Thiel, T., Spreer, J., Klisch, J., Schumacher, M., Valproate-induced encephalopathy: assessment with MR imaging and 1H MR spectroscopy (2002) Epilepsia, 43, pp. 1101-1105
Guerrini, R., Belmonte, A., Canapicchi, R., Casalini, C., Perucca, E., Reversible pseudoatrophy of the brain and mental deterioration associated with valproate treatment (1998) Epilepsia, 39, pp. 27-32
Mock, C.M., Schwetschenau, K.H., Levocarnitine for valproic-acid-induced hyperammonemic encephalopathy (2012) Am J Health Syst Pharm, 69, pp. 35-39
Senior, A.E., Nadanaciva, S., Weber, J., The molecular mechanism of ATP synthesis by F1F0-ATP synthase (2002) Biochim Biophys Acta, 1553, pp. 188-211
Dautant, A., Meier, T., Hahn, A., Tribouillard-Tanvier, D., di Rago, J.P., Kucharczyk, R., ATP Synthase Diseases of Mitochondrial Genetic Origin (2018) Front Physiol, 9, p. 329
Hroudova, J., Fisar, Z., Activities of respiratory chain complexes and citrate synthase influenced by pharmacologically different antidepressants and mood stabilizers (2010) Neuro Endocrinol Lett, 31, pp. 336-342
Luis, P.B., Ruiter, J.P., Aires, C.C., Soveral, G., de Almeida, I.T., Duran, M., Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation (2007) Biochim Biophys Acta, 1767, pp. 1126-1133
Lam, C.W., Lau, C.H., Williams, J.C., Chan, Y.W., Wong, L.J., Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy (1997) Eur J Pediatr, 156, pp. 562-564
Chaudhry, N., Patidar, Y., Puri, V., Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate (2013) J Pediatr Neurosci, 8, pp. 135-137
Bianco, A., Martínez-Romero, I., Bisceglia, L., D'Agruma, L., Favia, P., Ruiz-Pesini, E., Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers (2016) Brain, 139, pp. 1-3
Introduction: There are several reported cases of patients developing motor and cognitive neurological impairment under treatment with valproic acid (VPA). We describe a woman who developed a subacute encephalopathy after VPA intake, harboring a mitochondrial DNA variant, previously described as causing VPA sensitivity in one pediatric patient. Material and Methods: A 65-year old woman developed a progressive, severe neurological deterioration after a 3 month treatment with valproate sodium, 800 mg daily. Magnetic resonance spectroscopy (MRS), muscle histochemical analysis and assay of mitochondrial enzymatic activities, and mitochondrial DNA sequencing were performed. Results: Neurological examination showed drowsiness, vertical gaze palsy, inability to either stand or walk, diffuse weakness, increased tendon reflexes. Blood lactate was increased, EEG showed diffuse theta and delta activity, MRI subcortical atrophy and leukoencephalopathy, MRS marked reduction of the NAA spectrum, with a small signal compatible with presence of lactate. Muscle biopsy evidenced presence of ragged red fibers (20%) and reduced COX reactivity. Assay of the muscle enzymatic activities showed multiple deficiencies of the electron transport chain and reduced ATP production. The mt.8393C > T variant in the MT-ATP8 gene was found in homoplasmy. The patient considerably improved after valproate withdrawal. Conclusion: The variant we found has been reported both as a polymorphism and, in a single patient, as related to the valproate-induced encephalopathy. The present case is the first bearing this mutation in homoplasmy. In case of neurological symptoms after starting VPA therapy, once hyperammonemia and liver failure have been ruled out, mtDNA abnormalities should be considered. © 2018 De Michele, Sorrentino, Nesti, Rubegni, Ruggiero, Peluso, Antenora, Quarantelli, Filla, De Michele and Santorelli.
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Impact Factor: 4.052
Dettagli Esporta in BibTeX Esporta in EndNote
Del Vecchio S, Zannetti A, Fonti R, Iommelli F, Lettieri A, Salvatore M
* Molecular imaging of drug resistance in cancer (243 visite)
Minerva Biotecnol (ISSN: 1120-4826), 2009 Mar; 21(1): 31-36.
Impact Factor: 0.268
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Calabrese V, Cornelius C, Mancuso C, Pennisi G, Calafato S, Bellia F, Bates TE, Giuffrida Stella AM, Schapira T, Dinkova Kostova AT, Rizzarelli E
* Cellular stress response: a novel target for chemoprevention and nutritional neuroprotection in aging, neurodegenerative disorders and longevity (332 visite)
Neurochemical Research (ISSN: 1573-6903, 0364-3190), 2008 Dec; 33(12): 2444-2471.
Impact Factor: 2.26
Dettagli Esporta in BibTeX Esporta in EndNote
Zannetti A, Iommelli F, Fonti R, Papaccioli A, Sommella J, Lettieri A, Pirozzi G, Bianco R, Tortora G, Salvatore M, Del Vecchio S
* Gefitinib induction of in vivo detectable signals by Bcl-2/Bcl-xL modulation of inositol trisphosphate receptor type (283 visite)
Clin Cancer Res (ISSN: 1078-0432, 1078-0432linking, 1078-0432print), 2008 Aug 15; 14(16): 5209-5219.
Impact Factor: 6.488
Dettagli Esporta in BibTeX Esporta in EndNote
Supuran CT, Di Fiore A, De Simone G
* Carbonic anhydrase inhibitors as emerging drugs for the treatment of obesity (166 visite)
Expert Opin Emerg Drugsexpert Opinion On Emerging Drugs (ISSN: 1472-8214), 2008 Jun; 13(2): 383-392.
Impact Factor: 3.08
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Atlante A, Amadoro G, Bobba A, de Bari L, Corsetti V, Pappalardo G, Marra E, Calissano P, Passarella S
* A peptide containing residues 26-44 of tau protein impairs mitochondrial oxidative phosphorylation acting at the level of the adenine nucleotide translocator (205 visite)
Bba-Bioenergetics (ISSN: 0005-2728, 0006-3002print, 0006-3002linking), 2008; 1777(10): 1289-1300.
Impact Factor: 4.447
Dettagli Esporta in BibTeX Esporta in EndNote
De Leva MF, Varrone A, Filla A, Quarantelli M, Bilo L, Piscitelli V, Salvatore E, Ammendola S, Striano S, De Michele G, Bonavita V, Pappata S
* Neuroimaging follow-up in a case of Rasmussen's encephalitis with dyskinesias (159 visite)
Mov Disord (ISSN: 0885-3185, 1531-8257), 2007 Oct 31; 22(14): 2117-2121.
Impact Factor: 3.207
Dettagli Esporta in BibTeX Esporta in EndNote
Vitale RM, Pedone C, Amodeo P, Antel J, Wurl M, Scozzafava A, Supuran CT, De Simone G
* Molecular modeling study for the binding of zonisamide and topiramate to the human mitochondrial carbonic anhydrase isoform VA (162 visite)
Bioorg Med Chem (ISSN: 0968-0896, 1464-3391, 1464-3391electronic), 2007 Jun 15; 15(12): 4152-4158.
Impact Factor: 2.662
Dettagli Esporta in BibTeX Esporta in EndNote
Galdiero S, Galdiero M, Pedone C
* Beta-Barrel Membrane Bacterial Proteins: Structure, Function, Assembly And Interaction With Lipids (145 visite)
Curr Protein Pept Sci (ISSN: 1389-2037), 2007 Feb; 8(1): 63-82.
Impact Factor: 3.259
Dettagli Esporta in BibTeX Esporta in EndNote
Calabrese V, Colombrita C, Guagliano E, Sapienza M, Ravagna A, Cardile V, Scapagnini G, Santoro AM, Mangiameli A, Butterfield DA, Giuffrida Stella AM, Rizzarelli E
* Protective effect of carnosine during nitrosative stress in astroglial cell cultures (178 visite)
Neurochemical Research (ISSN: 0364-3190, 1573-6903), 2005 Jun; 30(6-7): 797-807.
Impact Factor: 2.187
Dettagli Esporta in BibTeX Esporta in EndNote
De Simone G, Di Fiore A, Menchise V, Pedone C, Antel J, Casini A, Scozzafava A, Wurl M, Supuran CT
* Carbonic anhydrase inhibitors. Zonisamide is an effective inhibitor of the cytosolic isozyme II and mitochondrial isozyme V: solution and X-ray crystallographic studies (146 visite)
Bioorg Med Chem Lett Bioorganic And Medicinal Chemistry Letters (ISSN: 0960-894x), 2005 May 2; 15(9): 2315-2320.
Impact Factor: 2.478
Dettagli Esporta in BibTeX Esporta in EndNote
De Capua A, Del Gatto A, Zaccaro L, Saviano G, Carlucci A, Livigni A, Gedressi C, Tancredi T, Pedone C, Saviano M
* A synthetic peptide reproducing the mitochondrial targeting motif of AKAP121: A conformational study (215 visite)
Biopolymers (ISSN: 0006-3525, 0006-6352, 0006-3525print), 2004; 76(6): 459-466.
Impact Factor: 2.863
Dettagli Esporta in BibTeX Esporta in EndNote
Saviano M, Zaccaro L, Benedetti E, Pedone C, Del Gatto A, Feliciello A, Affaiatati A, Avvedimento EV
* Development of peptides able to modulate the interaction of AKAP121 with mitochondria (211 visite)
Peptide Revolution, 2004; N/D: N/D-N/D.
Impact Factor: 4.659
Dettagli Esporta in BibTeX Esporta in EndNote
Del Vecchio S, Zannetti A, Aloj L, Caracò C, Ciarmiello A, Salvatore M
* Inhibition of early Tc-99m-MIBI uptake by Bcl-2 anti-apoptotic protein overexpression in untreated breast carcinoma (253 visite)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2003 Jun; 30(6): 879-887.
Impact Factor: 3.324
Dettagli Esporta in BibTeX Esporta in EndNote
Cardone L, de Cristofaro T, Affaitati A, Garbi C, Ginsberg MD, Saviano M, Varrone S, Rubin CS, Gottesman ME, Avvedimento EV, Feliciello A
* A-kinase anchor protein 84/121 are targeted to mitochondria and mitotic spindles by overlapping amino-terminal motifs (156 visite)
J Mol Biol (ISSN: 0022-2836, 1089-8638, 1089-8638electronic), 2002 Jul 12; 320(3): 663-675.
Impact Factor: 5.359
Dettagli Esporta in BibTeX Esporta in EndNote
Russo M, Palumbo R, Tedesco I, Mazzarella G, Russo P, Iacomino G, Russo GL
Quercetin and anti-CD95(Fas/Apo1) enhance apoptosis in HPB-ALL cell line (134 visite)
Febs Lett (ISSN: 0014-5793, 0014-5793print, 1873-3468electronic), 1999 Dec 3; 462(3): 322-328.
Impact Factor: 3.72
Dettagli Esporta in BibTeX Esporta in EndNote
Bonomo RP, De Flora A, Rizzarelli E, Santoro AM, Tabbì G, Tonetti M
Copper(II) complexes encapsulated in human red blood cells (205 visite)
J Chem Res (ISSN: 0162-0134, 1873-3344, 0162-0134print), 1995 Sep; 59(4): 773-784.
Impact Factor: 1.342
Dettagli Esporta in BibTeX Esporta in EndNote
48 Records (43 escludendo Abstract e Conferenze).
Impact factor totale: 186.459 (167.934 escludendo Abstract e Conferenze).
Impact factor a 5 anni totale: 185.63 (165.512 escludendo Abstract e Conferenze).
Impact factor totale: 186.459 (167.934 escludendo Abstract e Conferenze).
Impact factor a 5 anni totale: 185.63 (165.512 escludendo Abstract e Conferenze).
Esporta in BibTeX Esporta in EndNote
Ultima modifica di Marco Comerci in data Monday 17 September 2018, 12:27:14
82 visite. Ultima visita in data Wednesday 18 December 2019, 6:07:46
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