Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.
We describe a Korean family presenting with pediatric-onset, progressive, generalized dystonia with bilateral striatal necrosis and the homoplasmic G14459A mutation in the mitochondrial ND6 gene. The G14459A mutation has been reported in families presenting with Leber hereditary optic neuropathy (LHON) alone, LHON plus dystonia, or pediatric-onset dystonia. The proband had shown dysarthria, progressive generalized dystonia, and spasticity at 5 yr. Brain MRI demonstrated bilateral striatal necrosis. Additional investigation of family members revealed the presence of homoplasmic G14459A mutation in asymptomatic individuals. The clinical manifestation of the homoplasmic G14459A mtDNA mutation within the same family showed asymptomatic or pediatric-onset dystonia, without optic neuropathy. This study reemphasizes that the G14459A mutation is a candidate mutation for maternally inherited dystonia, regardless of optic neuropathy, and supports the hypothesis that nuclear genes may play a role in modifying the clinical expression of mitochondrial disease.
Kim
In-Suk
IS
Department of Laboratory Medicine, Gyeongsang National University Hospital, Jinju, Korea.
Ki
Chang-Seok
CS
Park
Ki-Jong
KJ
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D004421:Dystonia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009245:NADH Dehydrogenase / Q000235:genetics*; D009336:Necrosis; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D056910:Republic of Korea
C507225:MT-ND6 protein, human; D009245:NADH Dehydrogenase