Abstract
Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO, a specific mitochondrial phenotype first reported in 1997 in association with multiple mitochondrial DNA deletions and mutations in POLG1 or more rarely in the C10orf2 (twinkle-helicase) gene. We report a 44-year-old man with SANDO who harboured two novel mutations (P648R/R807C) in the POLG1 gene.
MeSH terms
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Acetylcarnitine / therapeutic use
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Adult
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Coenzymes
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DNA Mutational Analysis
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DNA Polymerase gamma
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DNA-Directed DNA Polymerase / genetics*
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Dysarthria / genetics
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Hereditary Sensory and Autonomic Neuropathies / genetics*
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Hereditary Sensory and Autonomic Neuropathies / metabolism
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Hereditary Sensory and Autonomic Neuropathies / physiopathology
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Humans
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Male
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Mitochondrial Myopathies / genetics*
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Mitochondrial Myopathies / metabolism
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Mitochondrial Myopathies / physiopathology
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Mutation / genetics*
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Ophthalmoplegia / genetics
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Peripheral Nerves / metabolism
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Peripheral Nerves / pathology
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Peripheral Nerves / physiopathology
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Syndrome
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Ubiquinone / analogs & derivatives
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Ubiquinone / therapeutic use
Substances
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Coenzymes
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Ubiquinone
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Acetylcarnitine
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DNA Polymerase gamma
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DNA-Directed DNA Polymerase
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POLG protein, human
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coenzyme Q10