Case ReportAdult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation
Introduction
Leigh syndrome (LS) is a neurodegenerative disorder characterized by bilateral lesions in the basal ganglia, thalamus, and brainstem. The majority of cases present in children but adult-onset cases have been reported. We describe a family harboring an m.8344 A>G mutation with adult-onset LS.
Section snippets
Patient 1
A 38-year-old woman presented with progressive weakness and cognitive impairment. At age 28 she was diagnosed with bilateral optic neuropathy. She had a family history of visual loss (three siblings, mother and uncle). Screening for Leber’s hereditary optic neuropathy was negative for mitochondrial DNA 3460 G>A, 4171 C>A, 14484 T>C, and 11778 G>A mutations.
She developed limb weakness and weight loss, at which time she was diagnosed with myopathy and underwent a muscle biopsy. Full
Discussion
LS is a severe progressive metabolic neurodegenerative disorder with clinical and genetic heterogeneity. Most cases are reported in infants under the age of 2. Adult onset forms are rare, and to our knowledge only three patients have been reported with associated mutations (m.8993 T>G [1], m.1644 G>T [2], and m.9176 T>C [3]). The mitochondrial mutation of 8344 A>G is well known as a cause of myoclonic epilepsy with ragged-red fibers (MERRF) syndrome, accounting for 90% of patients. MERRF is
Conflicts of Interest/Disclosures
The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication.
Acknowledgement
This work was supported by Grant No. 04-2011-0090 from the Seoul National University Hospital Research Fund.
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Mitochondrial disorders of the retinal ganglion cells and the optic nerve
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