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November 2004

A Novel Polymerase γ Mutation in a Family With Ophthalmoplegia, Neuropathy, and Parkinsonism

Author Affiliations

Author Affiliations: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY (Drs Mancuso, Filosto, and DiMauro), and Department of Neurology, University of Alabama at Birmingham (Dr Oh).

Arch Neurol. 2004;61(11):1777-1779. doi:10.1001/archneur.61.11.1777

Background  Mutations in polymerase γ 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 γ 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 γ 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 γ 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 γ gene.