Abstract
Background:
Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production.
Case presentation:
Here we present the case of a 48-year-old woman carrying a homozygous mutation (p.A899T) in mitochondrial polymerase gamma (POLG) and manifesting with a complex neurological phenotype including Dopamine-agonist responsive Parkinsonism.
Conclusion:
This case report is further evidence that mitochondrial dysfunction might play a role in Parkinson's Disease pathogenesis and helps in identification of apparent mutation-specific clinical characteristics. Mutations in POLG should be looked for in cases of Parkinsonism, especially when multisystem neurological involvement is found.
MeSH terms
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Benzothiazoles / therapeutic use
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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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DNA-Directed DNA Polymerase / metabolism
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Dopamine Agonists / therapeutic use*
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Duloxetine Hydrochloride
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Dysarthria / complications
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Dysarthria / genetics*
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Dysarthria / pathology
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Female
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Hereditary Sensory and Motor Neuropathy / complications
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Hereditary Sensory and Motor Neuropathy / genetics*
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Hereditary Sensory and Motor Neuropathy / pathology
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Humans
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Middle Aged
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Mitochondria / enzymology
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Ophthalmoplegia / complications
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Ophthalmoplegia / genetics*
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Ophthalmoplegia / pathology
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Parkinson Disease / complications
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Parkinson Disease / drug therapy*
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Pramipexole
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Thiophenes / therapeutic use
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Tomography, Emission-Computed, Single-Photon
Substances
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Benzothiazoles
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Dopamine Agonists
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Thiophenes
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Pramipexole
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Duloxetine Hydrochloride
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DNA Polymerase gamma
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DNA-Directed DNA Polymerase
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POLG protein, human
Supplementary concepts
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Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis