Abstract
We report the cases of a mother and son with Leber's hereditary optic neuropathy (LHON), where a point mutation of mitochondria DNA from guanine to adenine on nucleotide position 11778 was verified. Both also had cerebellar ataxia and dysarthria and in both cases cerebellar atrophies were detected by computed tomography or magnetic resonance imaging. It was not possible to elucidate the relationship between LHON and the cerebellar atrophy, but it should be kept in mind that various neurological complications may occur in LHON.
Similar content being viewed by others
References
Weerdt CJ De, Went LN (1971) Neurological studies in families with Leber's optic atrophy. Acta Neurol Scand 47:541–554
Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, McDonald WI, Compston DAS (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
Larsson N-G, Andersen O, Holme E, Oldfors A, Wahlström J (1991) Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 30:701–708
Newman NJ (1993) Leber's hereditary optic neuropathy. New genetic considerations. Arch Neurol 50:540–548
Novotny EJ, Singh G, Wallace DC, Dorfman LJ, Louis A, Sogg RL, Steinman L (1986) Leber's disease and dystonia: a mitochondrial disease. Neurology 36:1053–1060
Paulus W, Straube A, Bauer W, Harding AE (1993) Central nervous system involvement in Leber's optic neuropathy. J Neurol 240:251–253
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AMS, Elsas II LJ, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427–1430
Went LN (1972) Leber disease and variants. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 13. North-Holland, Amsterdam, pp 94–110
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Funakawa, I., Kato, H., Terao, A. et al. Cerebellar ataxia in patients with Leber's hereditary optic neuropathy. J Neurol 242, 75–77 (1995). https://doi.org/10.1007/BF00887819
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00887819