Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report

Kim, In-Suk; Ki, Chang‐Seok; Park, Ki-Jong

doi:10.3346/jkms.2010.25.1.180

Cited by 26 publications

(17 citation statements)

References 13 publications

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“…Additional clinical features: juvenile‐onset subacute vision loss (Leber hereditary optic neuropathy), encephalopathy, spasticity, bulbar dysfunction, cognitive impairment…”

Section: Applying the Recommendationsmentioning

confidence: 99%

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

et al. 2016

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The system of assigning locus symbols to specify chromosomal regions that are associated with a familial disorder has a number of problems when used as a reference list of genetically determined disorders,including (I) erroneously assigned loci, (II) duplicated loci, (III) missing symbols or loci, (IV) unconfirmed loci and genes, (V) a combination of causative genes and risk factor genes in the same list, and (VI) discordance between phenotype and list assignment. In this article, we report on the recommendations of the International Parkinson and Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders and present a system for naming genetically determined movement disorders that addresses these problems. We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal movement disorders, neurodegeneration with brain iron accumulation, and primary familial brain calcifications. This system provides a resource for clinicians and researchers that, unlike the previous system, can be considered an accurate and criterion-based list of confirmed genetically determined movement disorders at the time it was last updated.

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“…Additional clinical features: juvenile‐onset subacute vision loss (Leber hereditary optic neuropathy), encephalopathy, spasticity, bulbar dysfunction, cognitive impairment…”

Section: Applying the Recommendationsmentioning

confidence: 99%

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

et al. 2016

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“…b,e,h). Most patients with m.14459G>A mutation develop pediatric‐onset dystonia and/or Leber's hereditary optic neuropathy . The present family members showed one of the typical features, and their disease severity seems to be related to the degree of the striatal lesion.…”

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confidence: 51%

Bilateral striatal lesions in a family with mitochondrial 14459G>A mutation

Nishijima

Tomiyama

Nishi-ie

et al. 2014

Neurology & Clinical Neurosc

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“…Among those variants, the phenotype of m.14459G>A mutation showed a great similarity with that of m.3697G>A. The patients with m.14459G>A mutation also presented with LHON, dystonia, and LS/Leigh‐like syndrome (LLS) (Kim, Ki, & Park, ; Ronchi et al, ). Indeed, optic atrophy, childhood‐onset dystonia, BSN, LLS, and LS can be considered as a phenotypic spectrum of severity likely determined by the mutational heteroplasmy (Gropman et al, ).…”

Section: Discussionmentioning

confidence: 99%

Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias

Zhong

Wen

Qiu

et al. 2019

Molec Gen & Gen Med

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Background Heteroplasmic mitochondrial 3697G>A mutation has been associated with leber hereditary optic neuropathy (LHON), mitochondrial encephalopathy, lactic acidosis and stroke‐like episodes (MELAS), and LHON/MELAS overlap syndrome. However, homoplasmic m.3697G>A mutation was only found in a family with Leigh syndrome, and the phenotype and pathogenicity of this homoplasmic mutation still need to be investigated in new patients. Methods The clinical interviews were conducted in 12 individuals from a multiple‐generation inherited family. Mutations were screened through exome next‐generation sequencing and subsequently confirmed by PCR‐restriction fragment length polymorphism. Mitochondrial complex activities and ATP production rate were measured by biochemical analysis. Results The male offspring with bilateral striatal necrosis (BSN) were characterized by severe spastic dystonia and complete penetrance, while the female offspring presented with mild symptom and low penetrance. All offspring carried homoplasmic mutation of NC_012920.1 : m.3697G>A, p.(Gly131Ser). Biochemical analysis revealed an isolated defect of complex I, but the magnitude of the defect was higher in the male patients than that in the female ones. The ATP production rate also exhibited a similar pattern. However, no possible modifier genes on the X chromosome were identified. Conclusion Homoplasmic m.3697G>A mutation could be associated with BSN, which expanded the clinical spectrum of m.3697G>A. Our preliminary investigations had not found the underlying modifiers to support the double hit hypothesis, while the high level of estrogens in the female patients might exert a potential compensatory effect on mutant cell metabolism.

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Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report

Cited by 26 publications

References 13 publications

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

Bilateral striatal lesions in a family with mitochondrial 14459G>A mutation

Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias

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