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Case Reports
. 2010 Jan;25(1):180-4.
doi: 10.3346/jkms.2010.25.1.180. Epub 2009 Dec 26.

Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report

In-Suk Kim  1 , Chang-Seok Ki, Ki-Jong Park
Affiliations
Case Reports

Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report

In-Suk Kim et al. J Korean Med Sci. 2010 Jan.

Abstract

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.

Keywords: Basal Ganglia; Dystonia; Mitochondrial Diseases; Necrosis; Nucleotide Position 14459.

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Figures

Fig. 1
Fig. 1
(A) Pedigree of a Korean family with maternally inherited, pediatric-onset dystonia carrying the G14459A mutation. (B) Direct sequencing analyses of the mitochondrial DNA for the G14459A mutation. Circle, female; square, male; black symbol, affected; dot, asymptomatic carrier; diagonal line, deceased.
Fig. 2
Fig. 2
Brain MRI of the proband (A, B) and his nephew (C, D). (A) The T2 weighted image of the proband show bilateral striatal hyperintensities with necrosis. (B) The T1 weighted image of the proband show bilateral hypointensities with necrosis. (C) The T2 weighted image of his nephew shows bilateral putaminal hyperintensities without necrosis. (D) The T1 weighted image of his nephew shows bilateral putaminal hypointensities without necrosis.
See this image and copyright information in PMC

References

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