Mitochondrial dementia: A sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation

Journal of the Neurological Sciences

Volumn 300, Issue 1-2, 2011, Pages 165-168

  Salsano, Ettore ^a   Giovagnoli, Anna Rita ^a   Morandi, Lucia ^a   MacCagnano, Carmelo ^a   Lamantea, Eleonora ^a   Marchesi, Chiara ^a   Zeviani, Massimo ^a   Pareyson, Davide ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Dementia; Hearing loss; MELAS syndrome; Mitochondrial disorders; Olanzapine; Wolff Parkinson White syndrome

Indexed keywords

ANTIDEPRESSANT AGENT; GENE PRODUCT; MITOCHONDRIAL TRANSFER RNA FOR LEUCINE 1; NEUROLEPTIC AGENT; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BEHAVIOR DISORDER; BRAIN ATROPHY; BRAIN MITOCHONDRION; CASE REPORT; COGNITIVE DEFECT; DEMENTIA; DISEASE SEVERITY; DRUG EFFICACY; ELECTROCARDIOGRAM; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; ITALY; JAPANESE; MELAS SYNDROME; MT TL1 GENE; MYOPATHY; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RARE DISEASE; STROKE; TREATMENT OUTCOME; WOLFF PARKINSON WHITE SYNDROME;

ADULT; COGNITION DISORDERS; DEMENTIA; FEMALE; HEARING LOSS; HUMANS; MELAS SYNDROME; MUTATION; RNA, TRANSFER, LEU; WOLFF-PARKINSON-WHITE SYNDROME;

EID: 78650515513     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.09.022     Document Type: Article

References (15)

1. M. Zeviani, and S. Di Donato Mitochondrial disorders Brain 127 2004 2153 2172 (Pubitemid 39382225)
2. J. Finsterer Mitochondrial disorders, cognitive impairment and dementia J Neurol Sci 283 2009 143 148
3. Y. Goto, I. Nonaka, and S. Horai A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies Nature 348 1990 651 653 (Pubitemid 120015131)
4. A.H. Schapira Mitochondrial disease Lancet 368 2006 70 82
5. Y. Goto, K. Tsugane, Y. Tanabe, I. Nonaka, and S. Horai A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Biochem Biophys Res Commun 202 1994 1624 1630 (Pubitemid 24265956)
6. G. Uziel, F. Carrara, T. Granata, E. Lamantea, M. Mora, and M. Zeviani Neuromuscular syndrome associated with the 3291T->C mutation of mitochondrial DNA: a second case Neuromuscul Disord 10 2000 415 418 (Pubitemid 30433811)
7. L. Valente, D. Piga, E. Lamantea, F. Carrara, G. Uziel, and P. Cudia Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochim Biophys Acta 1787 2009 491 501
8. A.R. Giovagnoli, A. Erbetta, F. Reati, and O. Bugiani Differential neuropsychological patterns of frontal variant frontotemporal dementia and Alzheimer's disease in a study of diagnostic concordance Neuropsychologia 46 2008 1495 1504
9. G. Silvestri, M. Rana, F. Odoardi, A. Modoni, E. Paris, and M. Papacci Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype Am J Med Genet 94 2000 201 206
10. C.M. Sue, D.S. Crimmins, Y.S. Soo, R. Pamphlett, C.M. Presgrave, and N. Kotsimbos Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis J Neurol Neurosurg Psychiatry 65 1998 233 240 (Pubitemid 28371937)
11. K.A. Majamaa-Voltti, S. Winqvist, A.M. Remes, U. Tolonen, J. Pyhtinen, and S. Uimonen A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA Neurology 66 2006 1470 1475 (Pubitemid 43958538)
12. D. Neary, J.S. Snowden, B. Northen, and P. Goulding Dementia of frontal lobe type J Neurol Neurosurg Psychiatry 51 1998 353 361
13. F. Manes, A.R. Villamil, S. Ameriso, M. Roca, and T. Torralva "Real life" executive deficits in patients with focal vascular lesions affecting the cerebellum J Neurol Sci 283 2009 95 98
14. A. Sudo, M. Sasaki, K. Sugai, and H. Matsuda Therapeutic effect and [123I]IMP SPECT findings of sodium dichloroacetate in a patient with MELAS Neurology 62 2004 338 339 (Pubitemid 38167161)
15. P. Kaufmann, K. Engelstad, Y. Wei, S. Jhung, M.C. Sano, and D.C. Shungu Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial Neurology 66 2006 324 330 (Pubitemid 43739931)