Cerebellar ataxia in patients with Leber's hereditary optic neuropathy

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 detec...

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Veröffentlicht in:	Journal of neurology 1995-01, Vol.242 (2), p.75-77
Hauptverfasser:	FUNAKAWA, I, KATO, H, TERAO, A, ICHIHASHI, K, KAWASHIMA, S, HAYASHI, T, MITANI, K, MIYAZAKI, S
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Cerebellar Ataxia - complications Diseases of visual field, optic nerve, optic chiasma and optic tracts DNA, Mitochondrial - genetics Female Humans Male Medical sciences Middle Aged Ophthalmology Optic Atrophies, Hereditary - complications Optic Atrophies, Hereditary - diagnosis Optic Atrophies, Hereditary - genetics Point Mutation
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Zusammenfassung:	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.
ISSN:	0340-5354 1432-1459
DOI:	10.1007/BF00887819