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

被引：17

作者：

Kim, In-Suk ^{[2
]}

Ki, Chang-Seok ^{[3
,4
]}

Park, Ki-Jong ^{[1
]}

机构：

[1] Gyeongsang Natl Univ, Sch Med, Gyeongsang Inst Hlth Sci, Dept Neurol, Jinju 660702, South Korea

[2] Gyeongsang Natl Univ Hosp, Dept Lab Med, Jinju 660702, South Korea

[3] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med, Seoul, South Korea

[4] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Genet, Seoul, South Korea

来源：

JOURNAL OF KOREAN MEDICAL SCIENCE | 2010年 / 25卷 / 01期

关键词：

Mitochondrial Diseases; Basal Ganglia; Necrosis; Dystonia; Nucleotide Position 14459; HEREDITARY OPTIC NEUROPATHY; MITOCHONDRIAL-DNA MUTATION; POINT MUTATION; GENE;

D O I：

10.3346/jkms.2010.25.1.180

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：180 / 184

页数：5