Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA

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• 作者：Mika H. Martikainen^a ; ^{kari.majamaa@oulu.fi} ; Laura Kyt&ouml ; vuori^b ; ^c ; ^d ; Kari Majamaa^b ; ^c ; ^d
• 关键词：Hypogonadism ; Leigh syndrome ; Mitochondrial disease ; Parkinsonism ; tRNA isoleucine
• 刊名：Mitochondrion
• 出版年：2013
• 出版时间：March, 2013
• 年：2013
• 卷：13
• 期：2
• 页码：83-86
• 全文大小：355 K

文摘

Leigh syndrome is a mitochondrial disease with considerable clinical and genetic variation. We present a 16-year-old boy with Leigh-like syndrome and broad developmental retardation, parkinsonism and hypogonadism. Sequencing of the entire mitochondrial DNA from blood revealed the m.4296G>A mutation in the MT-TI gene. The mutation was heteroplasmic with a 95 % proportion of the mutant genome, while the proportion was 58 % in the blood of the patient's clinically healthy mother. Our results suggest that m.4296G>A is pathogenic in humans, and that the phenotype related to this change includes Leigh-like syndrome in adolescence with parkinsonism and hypogonadism, in addition to the previously reported early infantile Leigh syndrome.