Abstract
We report a pedigree of adult-onset Leigh syndrome (LS) with mitochondrial mutation 8344 A>G. A 38-year-old woman presented with optic neuropathy, weakness and cognitive impairment. Family history of optic neuropathy and systemic involvement was suggestive of mitochondrial encephalopathy. Genetic and radiologic studies showed m.8344 A>G mutation with characteristics of LS. To our knowledge this is the first case of adult-onset LS demonstrating the m.8344 A>G mutation.
Keywords:
Adult-onset; Leigh syndrome; Mitochondrial disorders; Mitochondrial encephalopathy; Myoclonic epilepsy and ragged red fibers.
Copyright © 2014 Elsevier Ltd. All rights reserved.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adenine
-
Adult
-
Age of Onset
-
Brain / pathology*
-
Cognitive Dysfunction / genetics
-
DNA, Mitochondrial / genetics*
-
Diffusion Magnetic Resonance Imaging
-
Female
-
Genetic Testing
-
Guanine
-
Humans
-
Leigh Disease / diagnosis*
-
Leigh Disease / genetics*
-
Leigh Disease / pathology
-
Memory Disorders / genetics
-
Muscle Weakness / genetics
-
Mutation*
-
Optic Atrophies, Hereditary / diagnosis*
-
Optic Atrophies, Hereditary / genetics*
-
Optic Atrophies, Hereditary / pathology
-
Pedigree*
Substances
-
DNA, Mitochondrial
-
Guanine
-
Adenine
Supplementary concepts
-
Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult