论文部分内容阅读
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 γgene and in a ffected relatives by restriction fragment length polymorphism analysis. Results: We found multiple mitochondrial DNA deletions in the proband’s muscle and a no vel missense mutation in the polymerase γgene (A2492G) in the proband and in he r affected siblings. Conclusion: Parkinsonism was a prominent clinical feature i n this family with autosomal dominant ophthalmoplegia, multiple mitochondrial DN A 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 a ffected relatives by restriction fragment length polymorphism analysis. Results: We found multiple mitochondrial DNA deletions in the proband’s muscle and a no vel missense mutation in the polymerase γ gene (A2492G) in the proband and in he r affected siblings. Conclusion: Park insonism was a prominent clinical feature i n this family with autosomal dominant ophthalmoplegia, multiple mitochondrial DN A deletions, and a novel mutation in the polymerase γgene.