| Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression? | |
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MedLine Citation:
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PMID: 17439982 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The prognosis of chronic progressive ophthalmoplegia with large-scale mitochondrial DNA (mtDNA) may strikingly vary from mild slowly progressive myopathy to severe multi-organ involvement. Evaluation of the disease course at the beginning of the disease is reputed impossible. To address the existence of predictive prognostic clues of these diseases, we classified 69 patients with chronic progressive ophthalmoplegia and large size mtDNA deletion into two groups according to the presence of manifestations from brain, inner ear or retina. These manifestations were present in 29 patients (CPEO/+N group) and absent in 40 patients (CPEO/-N group). We retrospectively established the clinical history of the patients and characterized their genetic alteration (amount of residual normal mtDNA molecules, site, size and percentage of the mtDNA deletion in 116 DNA samples from muscle, blood, urinary and buccal cells). In both clinical groups, the disease was progressive and heart conduction defects were frequent. We show that the CPEO/+N phenotype segregated with severe prognosis in term of rate of progression, multi-organs involvement and rate of survival. Age at onset appeared a predictive factor. The risk to develop a CPEO/+N phenotype was high when onset was before 9 years of age and low when onset was after 20 years of age. The presence and proportion of the mtDNA deletion in blood was also significantly associated with the CPEO/+N phenotype. This study is the first to establish the natural history of chronic ophthalmoplegia with mtDNA deletion in a large series of patients and to look for parameters potentially predictive of the patients' clinical course. |
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Authors:
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Karine Auré; Hélène Ogier de Baulny; Pascal Laforêt; Claude Jardel; Bruno Eymard; Anne Lombès |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2007-04-17 |
Journal Detail:
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Title: Brain : a journal of neurology Volume: 130 ISSN: 1460-2156 ISO Abbreviation: Brain Publication Date: 2007 Jun |
Date Detail:
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Created Date: 2007-05-25 Completed Date: 2007-06-27 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0372537 Medline TA: Brain Country: England |
Other Details:
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Languages: eng Pagination: 1516-24 Citation Subset: AIM; IM |
Affiliation:
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Inserm, U582, Paris F-75013, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Age of Onset Child Child, Preschool DNA, Mitochondrial / blood, genetics* Disease Progression Follow-Up Studies Gene Deletion Gene Rearrangement* Humans Kearns-Sayre Syndrome / genetics Middle Aged Ophthalmoplegia, Chronic Progressive External / genetics* Prognosis Retrospective Studies Risk Factors |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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