A Novel Polymerase γ Mutation in a Family With Ophthalmoplegia, Neuropathy, and Parkinsonism
Open accessAbstract
BACKGROUND: Mutations in polymerase gamma cause progressive external ophthalmoplegia and a variety of associated symptoms and signs, including neuropathy, ataxia, hypogonadism, hearing loss, muscle weakness, and psychiatric problems. Extrapyramidal signs have been rarely described. OBJECTIVE: To describe a family with a novel polymerase gamma mutation and autosomal dominant transmission of progressive external ophthalmoplegia, neuropathy, hypogonadism, and parkinsonism. DESIGN: Case report. PATIENTS: The proband, a 49-year-old woman with incipient parkinsonism, and her 59-year-old brother with overt parkinsonian features. MAIN OUTCOME MEASURES: Mutation in the proband by sequencing the polymerase gamma gene and in affected relatives by restriction fragment length polymorphism analysis. RESULTS: We found multiple mitochondrial DNA deletions in the proband's muscle and a novel missense mutation in the polymerase gamma gene (A2492G) in the proband and in her affected siblings. CONCLUSION: Parkinsonism was a prominent clinical feature in this family with autosomal dominant ophthalmoplegia, multiple mitochondrial DNA deletions, and a novel mutation in the polymerase gamma gene.
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A novel missense mutation in Pol γ (A2492G) was identified in another family with PEO, PD, hypogonadism, hearing loss, muscle weakness and psychiatric problems.
“A novel missense mutation in Pol γ (A2492G) was identified in another family with PEO, PD, hypogonadism, hearing loss, muscle weakness and psychiatric problems (Mancuso et al., 2004).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Mancuso et al., 2004
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- Authors
- Mancuso, M., Filosto, M., Oh, S. J., & DiMauro, S.
- Affiliations
- Columbia University (US)
- Columbia University Irving Medical Center (US)
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2004-11-01
- Volume
- 61
- Issue
- 11
- Pages
- 1777
- ISSN
- 0003-9942 (ISSN-L)
- OpenAlex
- W1966206826
- Cited by
- 92
- References
- 25
- Citations by year
- 2024: 1 · 2022: 4 · 2021: 4 · 2020: 3 · 2019: 3 · 2018: 4 · 2017: 3 · 2016: 4 · 2015: 4 · 2014: 8 · 2013: 4 · 2012: 5
- FWCI
- 2.70
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Archives of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion)
- Funders
- Muscular Dystrophy Association
- Università degli Studi di Verona
- Università di Pisa
- National Institute of Neurological Disorders and Stroke (NS-11766)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD032062)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- DNA polymerase gamma, POLD1 mutation, chronic progressive external ophthalmoplegia, parkinsonism, neuropathy, hypogonadism, mitochondrial DNA deletions, autosomal dominant inheritance, missense mutations, extrapyramidal signs, mitochondrial disease
- MeSH terms
- DNA Polymerase gamma, DNA Mutational Analysis, DNA-Directed DNA Polymerase, DNA, Mitochondrial, Female, Humans, Male, Middle Aged, Nervous System Diseases, Ophthalmoplegia, Pedigree, Parkinsonian Disorders
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