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Background: Mutations in polymerase γcause progressive external ophthalmopleg ia and a variety of associated symptoms and signs, including neuropathy, ataxia, hypogonadism, hearing loss, muscle weakness, and psychiatric problems. Extrapyr amidal 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: Ca se report. Patients: The proband, a 49 year old woman with incipient parkinson ism, and her 59 year old brother with overt parkinsonian features. Main Outcom e 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 probands muscle and a n ovel 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 γgene.
Background: Mutations in polymerase γcause progressive external ophthalmopleg ia and a variety of associated symptoms and signs, including neuropathy, ataxia, hypogonadism, hearing loss, muscle weakness, and psychiatric problems. Objective: To describe a family with a novel polymerase γ.mutation and autosomal dominant transmission of progressive external ophthalmoplegia, neuropathy, hypogonadism, and parkinsonism. Design: Ca se report. Patients: The proband, a 49 year old woman with incipient parkinson ism, and her 59 year old brother with overt parkinsonian features. Main Outcom e 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 an ovel missense mutation in the polymerase γ.gene (A2492G) in the proband and in her affected siblings. Conclusion: Par kinsonism was a prominent clinical feature in this family with autosomal dominant ophthalmoplegia, multiple mitochondrial DNA deletions, and a novel mutation in the polymerase γgene.