title: Cerebellar ataxia in patients with Leber's hereditary optic neuropathy.
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.
authors.affiliation: Department of Internal Medicine, Kawasaki Medical School, Okayama, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Funakawa
authors.forename: H
authors.initials: H
authors.lastname: Kato
authors.forename: A
authors.initials: A
authors.lastname: Terao
authors.forename: K
authors.initials: K
authors.lastname: Ichihashi
authors.forename: S
authors.initials: S
authors.lastname: Kawashima
authors.forename: T
authors.initials: T
authors.lastname: Hayashi
authors.forename: K
authors.initials: K
authors.lastname: Mitani
authors.forename: S
authors.initials: S
authors.lastname: Miyazaki
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000150:complications*; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial