Leber's hereditary optic neuropathy with the 11778 mtDNA mutation and white matter disease resembling multiple sclerosis: Clinical, MRI and MRS findings

Journal of the Neurological Sciences

Volumn 135, Issue 2, 1996, Pages 176-180

  Jansen, P H P ^a,b   Van Der Knaap, M S ^c   De Coo, I F M ^d  

^a GELDERSE VALLEI HOSPITAL   (Netherlands)

^b Free University Hospital ^*  (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

11778 mitochondrial DNA mutation; Leber's hereditary optic neuropathy; MRI; MRS; Multiple sclerosis

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HEREDITARY OPTIC ATROPHY; HUMAN; MALE; MULTIPLE SCLEROSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL;

EID: 0030048236     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(95)00287-C     Document Type: Article

References (23)

1. Arnold, D.L., Matthews, P.M., Francis, G.S. et al. (1992) Proton magnetic resonance spectroscopic imaging for metabolic characterization of demyelinating plaques. Ann. Neurol., 31: 235-241.
2. Arnold, D.L., Riess, G.T., Matthews, P.M. et al. (1994) Use of proton magnetic resonance spectroscopy for monitoring disease progression in multiple sclerosis. Ann. Neurol., 36: 76-82.
3. Cortelli, P., Montagna, P., Avoni, P. et al. (1991) Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family. Neurology, 41: 1211-1215.
4. Cross, J.H., Gadian, D.G., Connelly, A. et al. (1993) Proton magnetic resonance spectroscopy studies in lactic acidosis and mitochondrial disorders. J. Inherit. Metab. Dis., 16: 800-811.
5. Davie, C.A., Hawkins, C.P., Barker, G.J. et al. (1994) Serial proton magnetic resonance spectroscopy in acute multiple sclerosis lesions. Brain, 117: 49-58.
6. De Weerdt, C.J. and Went, L.N. (1971) Neurological studies in families with Leber's optic atrophy. Acta Neurol. Scand., 47: 541-554.
7. Ferguson, F.R. and Critchley, M. (1929) Leber's optic atrophy and its relationship with the heredo-familial ataxias. Brain, 52: 203-225.
8. Flanigan, K.M. and Johns, D.R. (1993) Association of the 11778 mitochondrial DNA mutation and demyelinating disease. Neurology, 43: 2720-2722.
9. 1H-NMR spectroscopy of human brain. Water suppression, short echo times, and 1 ml resolution. J. Magn. Reson., 90: 464-473.
10. Grodd, W., Krägeloh-Mann, I., Klose, U. et al. (1991) Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Radiology, 181: 173-181.
11. Harding, A.E., Sweeney, M.G., Miller, D.H. et al. (1992) Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain, 115: 979-989.
12. Horowitz, A.L., Kaplan, R.D., Grewe, G. et al. (1989) The ovoid lesion: a new MR observation in patients with multiple sclerosis. Am. J. Neuroradiol., 10: 303-305.
13. Kellar-Wood, H., Robertson, N., Govan, G.G. et al. (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann. Neurol., 36: 109-112.
14. Kermode, A.G., Moseley, I.F., Kendall, B.E. et al. (1989) Magnetic resonance imaging in Leber's optic neuropathy. J. Neurol. Neurosurg. Psychiat., 52: 671-674.
15. Krägeloh-Mann, I., Grodd, W., Schöning, M. et al. (1993) Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency. Dev. Med. Child. Neurol., 35: 769-776.
16. Leber, T. (1871) Ueber hereditäre und congenital angelegte Sehnervenleiden. Albrecht v. Graefes Arch. Ophthalmol., 17: 249-291.
17. Lee, D.H., Simon, J.H. and Szumowski, J. (1991) Optic neuritis and orbital lesions: lipid-suppressed chemical shift MR imaging. Radiology, 179: 543-546.
18. Lees, F., MacDonald, A-M.E. and Aldren Turner, J. W. (1964) Leber's disease with symptoms resembling disseminated sclerosis. J. Neurol. Neurosurg. Psychiat., 27: 415-421.
19. Matthews, P.M., Andermann, F., Silver, K. et al. (1993) Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies. Neurology, 43: 2484-2490.
20. Newman, N.J. (1993) Leber's hereditary optic neuropathy. Arch. Neurol., 50: 540-548.
21. Paulus, W., Straube, A., Bauer, W. et al. (1993) Central nervous system involvement in Leber's optic neuropathy. J. Neurol., 240: 251-253.
22. Singh, G., Lott, M.T. and Wallace, D.C. (1989) A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. New Engl. J. Med., 320: 1300-1305.
23. Van Senus, A.H.C. (1963) Leber's disease in the Netherlands. Docum. Ophthalmol. Den Haag, 17: 1-162.