Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation.
We investigated a family with optic atrophy which occurred in childhood or early adulthood plus late-onset cerebellar ataxia. The magnetic resonance imaging in the proband revealed cerebellar atrophy. The proband and her brother were homoplasmic for the most common mitochondrial DNA (mtDNA) 11778 mutation associated with Leber's hereditary optic neuropathy (LHON). This study showed further evidence that central nervous system lesions can occur in cases of LHON mtDNA mutation.
Murakami
T
T
First Department of Internal Medicine, Kumamoto University School of Medicine, Japan.
Mita
S
S
Tokunaga
M
M
Maeda
H
H
Ueyama
H
H
Kumamoto
T
T
Uchino
M
M
Ando
M
M
D000328:Adult; D000368:Aged; D002524:Cerebellar Ataxia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004262:DNA Restriction Enzymes; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction
D004272:DNA, Mitochondrial; D004262:DNA Restriction Enzymes