Ocular motor disorders in mitochondrial encephalopathy with lactic acid and stroke-like episodes with the 3271 (T-C) point mutation in mitochondrial DNA

Journal of Neuro-Ophthalmology

Volumn 27, Issue 1, 2007, Pages 22-28

  Shinmei, Yasuhiro ^a,c   Kase, Manabu ^b   Suzuki, Yasuo ^a,c   Nitta, Takuya ^a,b   Chin, Shinki ^a   Yoshida, Kazuhiko ^a   Goto, Yu Ichi ^d   Nagashima, Toshiko ^a,b   Ohno, Shigeaki ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TEINE KEIJINKAI HOSPITAL   (Japan)

^c SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; ARTICLE; CASE REPORT; CEREBELLUM DEGENERATION; CLINICAL FEATURE; CORNEA REFLEX; DYSMETRIA; EYE MOVEMENT; EYE TRACKING; FAMILY; FEMALE; FRONTAL CORTEX; GENE; HUMAN; JAPANESE; MALE; MELAS SYNDROME; NYSTAGMUS; OPHTHALMOPLEGIA; POINT MUTATION; PRIORITY JOURNAL; REACTION TIME; SACCADIC EYE MOVEMENT;

ADULT; DISEASE PROGRESSION; DNA, MITOCHONDRIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MELAS SYNDROME; MIDDLE AGED; OCULAR MOTILITY DISORDERS; POINT MUTATION; PROGNOSIS; PURSUIT, SMOOTH; RNA, TRANSFER, LEU; SACCADES;

EID: 34247108198     PISSN: 10708022     EISSN: None     Source Type: Journal    
DOI: 10.1097/WNO.0b013e3180334cb0     Document Type: Article

References (26)

1. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-9.
2. Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-3.
3. Blass JP, Sheu RK, Cedarbaum JM. Energy metabolism in disorders of the nervous system. Rev Neurol (Paris) 1988;144:543-63.
4. Pavlakis SG, Phillips PC, DiMauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481-8.
5. Fukuhara N, Tokiguchi S, Shirakawa K, et al. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 1980;47:117-33.
6. Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia and complete heart block; unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 1958;60:280-89.
7. Goto Y. Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 1995;3:S107-12.
8. Marie SK, Goto Y, Passos-Bueno MR, et al. A Caucasian family with the 3271 mutation in mitochondrial DNA. Biochem Med Metab Biol 1994;52:136-9.
9. Mojon D. Eye diseases in mitochondrial encephalomyopathies [in German]. Ther Umsch 2001;58:49-55.
10. Sue CM, Mitchell P, Crimmins DS, et al. Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation. Neurology 1997;49:1013-7.
11. Nagashima T, Kato H, Maguchi S, et al. A mitochondrial encephalomyo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA. Neuromuscul Disord 2001;11:470-6.
12. Goto Y, Nonaka I, Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1991;1097:238-40.
13. Suzuki Y, Shinmei Y, Nara H, et al. Effects of a fixation target on torsional optokinetic nystagmus. Invest Ophthalmol Vis Sci 2000;41:2954-9.
14. Hess BJ, Van Opstal AJ, Straumann D, et al. Calibration of three-dimensional eye position using search coil signals in the rhesus monkey. Vision Res 1992;32:1647-54.
15. Ohno K, Matsuzaki H, Yamada T, et al. The difference in saccadic parameters among several visually guided tasks. Jpn J Ophthalmol 2000;44:695.
16. Barash S, Melikyan A, Sivakov A, et al. Saccadic dysmetria and adaptation after lesions of the cerebellar cortex. J Neurosci 1999;19:10931-9.
17. Amador N, Schlag-Rey M, Schlag J. Primate antisaccade. II. Supplementary eye field neuronal activity predicts correct performance. J Neurophysiol 2004;91:1672-89.
18. Fukushima J, Fukushima K, Chiba T, et al. Disturbances of voluntary control of saccadic eye movements in schizophrenic patients. Biol Psychiatry 1988;23:670-7.
19. Kitagawa M, Fukushima J, Tashiro K. Relationship between antisaccades and the clinical symptoms in Parkinson's disease. Neurology 1994;44:2285-9.
20. Lasker AG, Zee DS, Hain TC, et al. Saccades in Huntington's disease: initiation defects and distractibility. Neurology 1987;37:364-70.
21. Rivaud-Pechoux S, Vidailhet M, Gallouedec G, et al. Longitudinal ocular motor study in corticobasal degeneration and progressive supranuclear palsy. Neurology 2000;54:1029-32.
22. Fletcher WA, Sharpe JA. Saccadic eye movement dysfunction in Alzheimer's disease. Ann Neurol 1986;20:464-71.
23. Halmagyi GM, Rudge P, Gresty MA, et al. Downbeating nystagmus: a review of 62 cases. Arch Neurol 1983;40:777-84.
24. Glasauer S, Hoshi M, Kempermann U, et al. Three-dimensional eye position and slow phase velocity in humans with downbeat nystagmus. J Neurophysiol 2003;89:338-54.
25. Zee DS, Friendlich AR, Robinson DA. The mechanism of downbeat nystagmus. Arch Neurol 1974;30:227-37.
26. Marti S, Bockisch CJ, Straumann D. Prolonged asymmetric smooth-pursuit stimulation leads to downbeat nystagmus in healthy human subjects. Invest Ophthalmol Vis Sci 2005;46:143-9.