Genomes and Genes
chronic progressive external ophthalmoplegia
Summary: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
Publications185 found, 100 shown here
- Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletionsG Van Goethem
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born Bunge Foundation, University of Antwerp, Universiteitsplein 1 B 2610 Antwerpen, Belgium
Nat Genet 28:211-2. 2001..We identified three additional POLG missense mutations compatible with recessive PEO In two nuclear families. POLG is the only DNA polymerase responsible for mtDNA replication...
- Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondriaJ N Spelbrink
Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
Nat Genet 28:223-31. 2001..The mutations cluster in a region of the protein proposed to be involved in subunit interactions. The function of Twinkle is inferred to be critical for lifetime maintenance of human mtDNA integrity...
- Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegiaTesseki Kin
Department of Neurology, Nara Medical University School of Medicine, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
J Hum Genet 51:555-8. 2006..peptide against Alzheimer disease-related insults, was expressed in muscles of patients with chronic progressive external ophthalmoplegia (CPEO), a major mitochondrial disease...
- Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathyA Carta
Institute of Ophthalmology, University of Parma, Italy
Br J Ophthalmol 89:825-7. 2005To compare the ultrastructural aspects of human extraocular muscles in two types of mitochondrial disease: chronic progressive external ophthalmoplegia (CPEO) and Leber's hereditary optic neuropathy (LHON).
- Tetracycline delays ocular motility decline in chronic progressive external ophthalmoplegiaAyman Omar
Department of Neurology, Mason Eye Institute, University of Missouri Columbia, Columbia, MO 65212, USA
Neurology 68:1159-60. 2007
- Assessment of visual function in chronic progressive external ophthalmoplegiaC Y Yu Wai Man
Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Eye (Lond) 20:564-8. 2006To assess the visual function of patients with chronic progressive external ophthalmoplegia (CPEO) using the Visual Function Index (VF-14)...
- Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegiaMatthew J Longley
Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA
Am J Hum Genet 78:1026-34. 2006..The progressive accumulation of mtDNA deletions causes COX deficiency in muscle fibers and results in the clinical phenotype...
- A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)Andres Berardo
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Neuromuscul Disord 20:204-6. 2010We describe a 62-year-old woman with chronic progressive external ophthalmoplegia (CPEO), multiple lipomas, diabetes mellitus, and a novel mitochondrial DNA (mtDNA) mutation at nucleotide 4302 (4302A>G) of the tRNA(Ile) gene (MTTI)...
- Clinical and molecular features of adPEO due to mutations in the Twinkle geneSharon Lewis
Murdoch Childrens Research Institute, The Royal Childrens Hospital, Parkville, Victoria 3052, Australia
J Neurol Sci 201:39-44. 2002..Thus, Twinkle appears to be the most common gene associated with adPEO in Australian families...
- Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegiaJenny A Korhonen
Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Novum, SE 141 86 Stockholm, Sweden
J Mol Biol 377:691-705. 2008....
- Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndromeSimone Bosbach
Department of Psychiatry and Department of Neurology, University of Bonn, Germany
Brain 126:1231-40. 2003..neuropsychological deficits have been reported in mitochondrial cytopathies, patients with chronic progressive external ophthalmoplegia (CPEO) or Kearns-Sayre syndrome (KSS) have not been studied systematically using a ..
- [Chronic progressive external ophthalmoplegia: clinical and electromyographic manifestations in a series of cases]P E Jimenez-Caballero
Servicio de Neurologia, Hospital Virgen de la Salud, Toledo, Espana
Rev Neurol 43:724-8. 2006b>Chronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. The different conditions in this group of diseases overlap clinically, enzymatically and genetically. There is no effective treatment...
- Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)A Agostino
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
Neurology 60:1354-6. 2003..Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive external ophthalmoplegia with multiple mtDNA deletions...
- Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegiaJ Ahn
Department of Ophthalmology, Seoul National University College of Medicine, Seoul Artificial Eye Center, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
Br J Ophthalmol 92:1685-8. 2008The aim of the study was to evaluate the results of the frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia patients.
- Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegiaJ W Taanman
Institute of Molecular Biology, University of Oregon, Eugene 97403, USA
Biochim Biophys Acta 1315:199-207. 1996..In skeletal muscle sections of a patient with chronic progressive external ophthalmoplegia known to harbor the 'common deletion' in a subpopulation of her mitochondrial DNA, most ..
- Ocular motility findings in chronic progressive external ophthalmoplegiaC Richardson
Department of Ophthalmology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon, Tyne, UK
Eye (Lond) 19:258-63. 2005..To characterise the ocular motility features of chronic progressive external opthalmoplegia by quantitative and semiquantitative means. To assess the prevalence of diplopia and the binocular adaptations to nonaligned visual axes...
- Update on chronic progressive external ophthalmoplegiaViktoria Bau
Klinik und Poliklinik für Augenheilkunde, Martin Luther Universitat Halle Wittenberg, Ernst Grube Strasse 40, 06097 Halle Saale, Germany
Strabismus 13:133-42. 2005..The efficacy of pharmacological therapies (e.g., coenzyme Q) has not been established so far. Symptomatic ophthalmological treatment includes ptosis and strabismus surgery. Early cardiac pacemaker implantation may be life-saving...
- Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegiaRoberta Virgilio
Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, Fondazione I R C C S Ospedale Maggiore, Policlinico, Mangiagolli e Regina Elena, Via Sforza 35, 20122, Milano, Italy
J Neurol 255:1384-91. 2008..7% of probands of this series. Six novel missense mutations contributing to the mutational load of PEO1 gene (p.R334P, p.W315S, p. S426N, p.W474S, p.F478I, p.E479K) were associated with an adult onset PEO phenotype...
- Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicaseHenry Rivera
Centro de Investigacion, Hospital Universitario 12 de Octubre, Av de Cordoba s n, 28041 Madrid, Spain
Neuromuscul Disord 17:677-80. 2007..1071G>C (p.R357P) mutation in the hot-spot linker region of the twinkle protein...
- Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegiaCornelia Kornblum
Department of Neurology, University of Bonn Medical Center, Bonn, D 53105, Germany
Biosci Rep 28:89-96. 2008CPEO (chronic progressive external ophthalmoplegia) is a common mitochondrial disease phenotype in adults which is due to mtDNA (mitochondrial DNA) point mutations in a subset of patients...
- Two families with autosomal dominant progressive external ophthalmoplegiaS Kiechl
Department of Neurology, University Hospital Innsbruck, Austria
J Neurol Neurosurg Psychiatry 75:1125-8. 2004..We report here the clinical and genetic features of two new families with autosomal dominant progressive external ophthalmoplegia (adPEO)...
- A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagiaM Spagnolo
Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy
Neuromuscul Disord 11:481-4. 2001..gene, a T-->C transition at nucleotide position 5628, in a 62-year-old woman with late onset chronic progressive external ophthalmoplegia, dysphagia and mild proximal myopathy...
- Classical mitochondrial phenotypes without mtDNA mutations: the possible role of nuclear genesTeeratorn Pulkes
Division of Neurology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Neurology 61:1144-7. 2003..Novel somatic mtDNA mutations in two patients with chronic progressive external ophthalmoplegia were identified...
- Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic progressive external opthalmoplagiaMassoud Houshmand
Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology NIGEB, Tehran, Iran
Neurol India 54:182-5. 2006..There are also some reports about the relationship between CPEO and the nuclear Twinkle gene which encodes a kind of mitochondrial protein called Twinkle...
- Brain metabolic profiles obtained by proton MRS in two forms of mitochondriopathies: Leber's hereditary optic neuropathy and chronic progressive external ophthalmoplegiaA Salvan
, UMR CNRS No 6612, , CHU Timone, Marseille, France
Eur Neurol 40:46-9. 1998..involvement: 2 patients with Leber's hereditary optic neuropathy (LHON) and 4 patients with chronic progressive external ophthalmoplegia (CPEO). Patients with LHON displayed normal spectra...
- A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegiaMarcus Deschauer
Department of Neurology, The Medical School, Framlington Place, University of Newcastle upon Tyne, NE2 4HH, Newcastle upon Tyne, UK
Neuromuscul Disord 13:568-72. 2003....
- Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cellsYuichi Matsushima
Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, Michigan 48824, USA
J Biol Chem 282:9436-44. 2007..Our dominant negative analysis of d-mtDNA helicase in cultured cells provides a tractable model for understanding human autosomal dominant progressive external ophthalmoplegia mutations...
- Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegiaG Van Goethem
Neuromuscular Reference Center, University Hospital of Antwerp UZA, Antwerpen, Belgium
Neuromuscul Disord 13:133-42. 2003..6% in the Belgian population...
- Role of adenine nucleotide translocator 1 in mtDNA maintenanceJ Kaukonen
National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland
Science 289:782-5. 2000..The analogous mutation in yeast caused a respiratory defect. These results indicate that ANT has a role in mtDNA maintenance and that a mitochondrial disease can be caused by a dominant mechanism...
- Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosisAndrew M Schaefer
School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom
Muscle Nerve 32:104-7. 2005We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease...
- A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO familyL Napoli
Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, I R C C S Ospedale Maggiore Policlinico, Milano, Italy
Neurology 57:2295-8. 2001..The resulting leucine to proline substitution likely modifies the secondary structure of the ANT1 protein. ANT1 gene mutations may account for adPEO in families with different ethnic backgrounds...
- Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkleRobert H Baloh
Department of Neurology, Washington University School of Medicine, PO Box 8111, 660 S Euclid Ave, St Louis, MO 63110, USA
Arch Neurol 64:998-1000. 2007..To describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism from a Twinkle mutation...
- POLG mutations in neurodegenerative disorders with ataxia but no muscle involvementG Van Goethem
Division of Neurology and the Neuromuscular Reference Center, University Hospital, Antwerpen, Belgium
Neurology 63:1251-7. 2004..To identify POLG mutations in patients with sensory ataxia and CNS features...
- Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutationAntonella Spinazzola
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, via Temolo 4, 21033 Milan, Italy
Neuromuscul Disord 14:815-7. 2004..DNA gene encoding tRNA(Asn), who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. A muscle biopsy showed the presence of ragged-red and COX-negative fibres...
- [Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)]C Kornblum
Klinik und Poliklinik fur Neurologie, Medizinische Fakultät der Universität Bonn
Klin Monbl Augenheilkd 221:1057-61. 2004b>Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial cytopathy presenting with ptosis and external ophthalmoparesis...
- Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patientsB H Kiyomoto
Universidade Federal de Sao Paulo, Escola Paulista de Medicina, Department of Neurology, Rua Pedro de Toledo 781, sétimo andar, 04039 032 Sao Paulo, Brazil
J Neurol Neurosurg Psychiatry 77:541-3. 2006..A recent study suggested that dystrophic features are frequent in patients with chronic progressive external ophthalmoplegia (CPEO) with a high mutation load, but the actual frequency of these abnormalities in CPEO ..
- Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicismG Hudson
Department of Neurology, The Medical School, University of Newcastle upon Tyne, UK
Neurology 64:371-3. 2005..One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO...
- Mitochondrial disorder, diabetes mellitus, and findings in three muscles, including the heartM Bhattacharjee
National Heart Institute, Kuala Lumpur, Malaysia
Ultrastruct Pathol 30:481-7. 2006The authors describe the case of a 50-year-old man with chronic progressive external ophthalmoplegia (CPEO), diabetes mellitus (DM), and coronary artery disease. The patient had no cardiac conduction abnormalities...
- Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcriptMansour Alemi
Department of Molecular Biosciences, 1311 Haring Hall, University of California, Davis, CA 95616, USA
Free Radic Biol Med 42:32-43. 2007..This provides a novel pathophysiological mechanism for these diseases, and suggests potential therapeutic strategies...
- Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic studyPetri Luoma
Department of Neurology and Programme of Neurosciences, Biomedicum Helsinki, Helsinki University, and Helsinki University Central Hospital, Helsinki, Finland
Lancet 364:875-82. 2004..We aimed to analyse the gene sequence of POLG in patients with progressive external ophthalmoplegia and their healthy relatives...
- Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutationsGittan Kollberg
Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
Eur J Hum Genet 13:463-9. 2005..We conclude that mtDNA point mutations do not appear to be directly or indirectly involved in the pathogenesis of mitochondrial disease in patients with different POLG1 mutations...
- A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathyE Maeso
Centro de Investigacion, Hospital 12 de Octubre, Avda de Cordoba Km 5 4, 28041 Madrid, Spain
Neuromuscul Disord 17:415-8. 2007..The G3283A mutation affects a strictly conserved base pair in the TPsiC stem of the gene and was not found in controls, thus satisfying the accepted criteria for pathogenicity...
- Risk of developing a mitochondrial DNA deletion disorderPatrick F Chinnery
Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
Lancet 364:592-6. 2004..Many patients with mtDNA disease harbour a single pathogenic mtDNA deletion, but the risk factors for new cases and disease recurrence are not known...
- Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?Karine Aure
INSERM, U582, Paris F 75013, France
Brain 130:1516-24. 2007..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...
- [Gene expression profiling of classic mitochondrial disorders. Its value in finding therapeutic strategies]S Mende
Klinik und Poliklinik fur Neurologie, Technische Universitat Dresden
Nervenarzt 78:1155-9. 2007..This review article focuses on the most recent gene expression profiling studies in the field of classic mitochondrial disorders...
- A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing lossElena Cardaioli
Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, Siena 53100, Italy
Neuromuscul Disord 17:681-3. 2007..Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNA(Ser(UCN))...
- SANDO: another presentation of mitochondrial diseaseMichael S Okun
Department of Neurology, University of Florida College of Medicine, Box 100284, Gainesville, FL 32610, USA
Am J Ophthalmol 137:951-3. 2004..To describe a unique mitochondrial syndrome that may present with the combination of ocular manifestations, sensory symptoms, and speech dysfunction...
- Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humansEnrico Baruffini
Department of Genetics, Biology of Microorganisms, Anthropology, Evolution, University of Parma, Italy
Hum Mol Genet 15:2846-55. 2006..Therefore, an increase of the mitochondrial dNTP pool and/or a decrease of reactive oxygen species can prevent the mtDNA damage induced by pol gamma mutations in yeast and, possibly, in humans...
- Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish populationA M Remes
Department of Neurology, University of Oulu, Finland
Neurology 64:976-81. 2005..DNA (mtDNA) deletions are associated with clinical conditions such as Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia in adults and Pearson syndrome in children...
- Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypesT Kasahara
Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, Wako Shi, Saitama, Japan
Mol Psychiatry 11:577-93, 523. 2006..We focused on chronic progressive external ophthalmoplegia (CPEO), patients with which sometimes have comorbid mood disorders...
- Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath
Metabolic Diseases Centre, Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing Munich, Germany
Brain 129:1674-84. 2006..1399G-->A (A467T) is common in children, but complete POLG1 sequencing is required to identify multiple mutations that can have complex implications for genetic counselling...
- Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish populationEmiliano Gonzalez-Vioque
Departamento de Bioquimica, Instituto de Investigaciones Biomedicas Alberto Sols CSIC UAM, Universidad Autonoma de Madrid, Hospital Universitario 12 de Octubre, Spain
Arch Neurol 63:107-11. 2006..Phenotypes other than PEO were recently documented in patients with mutations in the POLG gene...
- Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegiaGregory R Stuart
Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA
Hum Mol Genet 15:363-74. 2006..The cellular processes contributing to these observations in the mutant yeast cells are potentially relevant to understanding the pathologies observed in human mitochondrial disease patients...
- The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial diseaseJ Daniel Sharer
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
IUBMB Life 57:607-14. 2005..Early development of FSHD may involve mitochondrial dysfunction and increased oxidative stress, possibly associated with overexpression of ANT1...
- [Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy]B Wabbels
Universitats Augenklinik, Abbestrasse 2, 53127, Bonn, Deutschland
Ophthalmologe 105:550-6. 2008The main symptom of chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) are upper eyelid ptosis and a slowly progressive weakness of the extraocular muscles...
- Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?Atle Melberg
Acta Neuropathol 110:315-6. 2005
- Early-onset familial parkinsonism due to POLG mutationsGuido Davidzon
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Ann Neurol 59:859-62. 2006..To define the molecular etiology of early-onset parkinsonism and peripheral neuropathy...
- Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3,399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNAPeterus Thajeb
Department of Neurology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
Clin Neurol Neurosurg 108:407-10. 2006..The onset of myopathy began from chronic progressive external ophthalmoplegia (CPEO) at age of 20 years...
- POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletionsG Hudson
Mitochondrial Research Group, The Medical School, University of Newcastle upon Tyne, UK
Neurology 66:1439-41. 2006..None had a mutation in C10ORF2 or ANT1. In the majority of patients, the primary nuclear genetic defect is likely to affect other unknown genes important for mtDNA maintenance...
- A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathyL Santoro
Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131, Napoli, Italia
J Neurol 253:869-74. 2006..Recent positional cloning studies have linked the disease to four different chromosomal loci. Mutations in POLG1 are a frequent cause of this disorder...
- Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosisThorsten Okulla
Department of Neurology, University of Bonn, Sigmund Freud Str 25, 53105, Bonn, Germany
Graefes Arch Clin Exp Ophthalmol 243:380-2. 2005..To highlight the diagnostic relevance of mitochondrial DNA (mtDNA) mutation analysis in acquired juvenile unilateral upper eyelid ptosis...
- Mitochondrial disorder, diabetes mellitus, and findings in three muscles, including the heartB Venugopal
National Heart Institute, Kuala Lumpur, Malaysia
Ultrastruct Pathol 30:135-41. 2006The authors describe the case of a 50-year-old man with chronic progressive external ophthalmoplegia (CPEO), diabetes mellitus (DM), and coronary artery disease. The patient had no cardiac conduction abnormalities...
- Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonismFederica Invernizzi
Unit of Molecular Neurogenetics, Pierfranco e Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, C Besta Neurological Institute Foundation IRCCS, Milan, Italy
Neuromuscul Disord 18:460-4. 2008..These observations support the hypothesis that mtDNA dysfunction is engaged in the pathogenesis of idiopathic Parkinson's disease...
- OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesPatrizia Amati-Bonneau
Département de Biochimie et Génétique, Centre Hospitalier Universitaire d Angers, Angers, France
Brain 131:338-51. 2008..of DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external ophthalmoplegia and mitochondrial myopathy with cytochrome c oxidase negative and Ragged Red Fibres...
- [Maternally inherited diabetes mellitus, deafness, chronic progressive external ophthalmoplegia and myopathy as the result of A3243G mutation of mtDNA]Aniko Gal
Semmelweis Egyetem, Altalános Orvostudományi Kar Neurológiai Klinika, Molekuláris Neurológiai Központ Budapest
Orv Hetil 149:1593-8. 2008..A brief summary of the different clinical phenotypes associated with A3243G mutation, and of the different mtDNA mutations which can cause chronic progressive ophthalmoplegia externa (CPEO) will also be reviewed in this case report...
- Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenanceGavin Hudson
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
Brain 131:329-37. 2008..This demonstrates the importance of OPA1 in mtDNA maintenance, and implicates OPA1 in diseases associated with secondary defects of mtDNA...
- Late-onset mitochondrial disorder with electromyographic evidence of myotoniaMathew L P Howse
Department of Neurology, Middlesbrough General Hospital, Middlesbrough, Teeside, United Kingdom
Muscle Nerve 28:757-9. 2003We describe a patient with chronic progressive external ophthalmoplegia (CPEO) due to a deletion of mitochondrial DNA (mtDNA) who had electromyographic evidence of myotonic discharges...
- [ARCO]Yukichi Inoue
Department of Internal Medicine, Toyama Koshi Rehabilitation Hospital
Nihon Rinsho 60:367-70. 2002
- [Autosomal dominant chronic progressive external ophthalmoplegia]Itsuro Higuchi
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University
Nihon Rinsho 60:450-4. 2002
- [Parathyroid dysfunction and mitochondrial diseases]Yasuhiro Ohno
Second Department of Internal Medicine, Kinki University School of Medicine
Nihon Rinsho 60:647-51. 2002
- Progressive external ophthalmoplegia and multiple mitochondrial DNA deletionsGert Van Goethem
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB 8, University of Antwerp UIA
Acta Neurol Belg 102:39-42. 2002..We also identified POLG mutations in two families with arPEO, which underlines the crucial role of the mtDNA replication machinery for mtDNA maintenance...
- [Pigmented retinopathy as a presenting sign of mitochondrial encephalomyopathy without external ophthalmoplegia]S Staudt
Universitats Augenklinik, Heidelberg
Ophthalmologe 100:234-7. 2003..Here we describe a patient with a structural mtDNA aberration whose presenting sign was impaired visual acuity in the presence of a pigmented retinopathy but lack of impaired ocular motility...
- [ANT1, twinkle, POLG mutation]Hirofumi Komaki
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry
Nihon Rinsho 60:353-6. 2002
- Oxidative capacity correlates with muscle mutation load in mitochondrial myopathyTina D Jeppesen
The Copenhagen Muscle Research Center, Copenhagen, Denmark
Ann Neurol 54:86-92. 2003..with point mutations of mtDNA and in seven with single, large-scale deletions of mtDNA (chronic progressive external ophthalmoplegia [CPEO]). Results were compared with those in 25 healthy matched subjects...
- Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNAA Solano
Departamento de Bioquimica y Biologia Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain
J Med Genet 40:e86. 2003
- Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/TwinkleGert Van Goethem
Hum Mutat 22:175-6. 2003
- Prevalence and progression of mitochondrial diseases: a study of 50 patientsJavier Arpa
Department of Neurology, La Paz Hospital, Paseo de la Castellana 261, 28046 Madrid, Spain
Muscle Nerve 28:690-5. 2003..01). Age of onset and gender were not associated with differences in survival. Mitochondrial disease is thus far more common than expected and a common cause of chronic morbidity...
- Error catastrophe in mutant mitochondriaLaura L Mays Hoopes
Department of Molecular Biology Biology at Pomona College, Claremont, CA 91711, USA
Sci Aging Knowledge Environ 2002:vp6. 2002..The affected mitochondria appear to exhibit an age-dependent error catastrophe. It is possible that other genetic diseases might result in error catastrophes in mitochondria as well...
- Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domainR Del Bo
Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, I R C C S Ospedale Maggiore Policlinico, Milan
Neurology 61:903-8. 2003..To better understand the still unknown pathologic mechanism involved in the accumulation of multiple mtDNA deletions in stable tissues...
- Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromesBekim Sadikovic
Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
PLoS ONE 5:e15687. 2010..Decreased levels of sequence homology and increased levels of deletion mutant heteroplasmy appear to correlate with earlier onset and more severe disease with multisystem involvement...
- Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in TaiwanC Y Pang
Department of Biochemistry and Center for Cellular and Molecular Biology, National Yang Ming University, Taipei, Taiwan
J Formos Med Assoc 98:326-34. 1999..one with Kearns-Sayre syndrome (KSS), one with diabetes mellitus and deafness, and five with chronic progressive external ophthalmoplegia (CPEO), harbored the A3243G mtDNA mutation...
- Outcomes in silicone rod frontalis suspension surgery for high-risk noncongenital blepharoptosisGary J Lelli
Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA
Ophthal Plast Reconstr Surg 25:361-5. 2009..To evaluate the outcomes of silicone rod frontalis suspension for complicated cases of ptosis with poor levator function...
- Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001R Marotta
Mitochondrial DNA Diagnostic Laboratory, Melbourne Neuromuscular Research Institute, St Vincent s Hospital, Melbourne University, 41 Victoria Parade, Fitzroy, Victoria 3065, Australia
Intern Med J 34:10-9. 2004..Samples have also been screened for deletions/ rearrangements associated with Kearns-Sayre syndrome (KSS) and chronic progressive external ophthalmoplegia (CPEO).
- [Expressions of PDCD5 and other apoptosis-related proteins in muscle of patients with mitochondrial cytopathy]Yong fie Li
Department of Neurology, First Hospital, Peking University, Beijing, China
Zhonghua Yi Xue Za Zhi 89:1593-6. 2009..acidosis and stroke like episodes (MELAS), limb-girdle type mitochondrial myopathy (LGMM) and chronic progressive external ophthalmoplegia (CPEO), and to explore the correlation between apoptosis and the pathogenesis of mitochondrial ..
- Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation diseaseM J Blok
Department of Clinical Genetics, University Hospital, Maastricht, The Netherlands
J Med Genet 44:e74. 2007..However, mutations in other mtDNA regions can be an important cause of oxidative phosphorylation (OXPHOS) disease as well...
- Molecular and clinical genetics of mitochondrial diseases due to POLG mutationsLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mutat 29:E150-72. 2008....
- Myasthenia gravisVern C Juel
Division of Neurology, Box 3403, Duke University Medical Center, Durham, North Carolina, 27710, USA
Orphanet J Rare Dis 2:44. 2007..Owing to improved diagnostic testing, immunotherapy, and intensive care, the contemporary prognosis is favorable with less than five percent mortality and nearly normal life expectancy...
- [Mitochondrial disease and mitochondrial DNA depletion syndromes]Chin Chang Huang
Department of Neurology, Chang Gung Memorial Hospital and Chang Gung University, College of Medicine, Taoyuan, Taiwan
Acta Neurol Taiwan 18:287-95. 2009..Further investigation on the understatanding between the nuclear and mitochondrial genomes is expected...
- Human mitochondrial diseases: answering questions and questioning answersN Howell
Department of Radiation Oncology, University of Texas Medical Branch, Galveston 77555, USA
Int Rev Cytol 186:49-116. 1999..episodes), MERRF (myoclonic epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/MILS (neuropathy, ataxia, and retinitis pigmentosum/maternally inherited Leigh ..
- Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutationY Suzuki
Saiseikai Central Hospital, Tokyo, Japan
Diabetes Care 20:1138-40. 1997..To present a novel mitochondrial DNA mutation in a diabetic family..
- Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletionsShintaro Yamashita
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi, Kodaira, Tokyo, 187 8502, Japan
J Hum Genet 53:598-606. 2008We examined 136 patients with mitochondrial DNA (mtDNA) deletion. Clinical diagnoses included chronic progressive external ophthalmoplegia (94 patients); Kearns-Sayre syndrome (KSS; 33 patients); Pearson's marrow-pancreas syndrome (six ..
- Recessive twinkle mutations cause severe epileptic encephalopathyTuula Lonnqvist
Division of Child Neurology, Helsinki University Central Hospital, Helsinki, Finland
Brain 132:1553-62. 2009..The objective of our study was to describe the development and progression of encephalopathy in infantile onset spinocerebellar ataxia syndrome, and compare the pathognomonic features with those in other mitochondrial encephalopathies...
- Functional importance of the conserved N-terminal domain of the mitochondrial replicative DNA helicaseYuichi Matsushima
Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing MI 48824 1319, USA
Biochim Biophys Acta 1787:290-5. 2009....
- Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, WC1N 1EH, UK
Hum Reprod 21:2467-73. 2006....
- Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1Silvio Ferraris
Department of Pediatrics, University of Turin, Turin, Italy
Arch Neurol 65:125-31. 2008..To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase gamma (POLG2) and a mutation in the OPA1 gene...
- Polymerase gamma 1 mutations: clinical correlationsMargherita Milone
Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA
Neurologist 16:84-91. 2010..Since then, it has emerged that POLG1 mutations can result in a spectrum of clinical manifestations, resulting in autosomal recessive or dominant mitochondrial diseases...
- Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid Tein
Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8
Mol Genet Metab 93:179-89. 2008..This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim...
- Symptomatic Recovery in Miller Fisher Syndrome Parallels Vestibular-Perceptual and not Vestibular-Ocular Reflex FunctionBarry M Seemungal
Academic Neuro Otology, Centre for Neuroscience, Charing Cross Hospital, Imperial College London London, UK
Front Neurol 2:2. 2011..In contrast, subjects with chronic ocular dysmotility, e.g., congenital nystagmus or chronic progressive external ophthalmoplegia, are typically symptom free...
- Diagnosis of mitochondrial diseases: clinical and histological study of sixty patients with ragged red fibersSundaram Challa
Department of Pathology, Nizam s Institute of Medical Sciences, Hyderabad, India
Neurol India 52:353-8. 2004..The characteristic morphologic change in muscle biopsy, ragged-red fibers (RRFs) provides an important clue to the diagnosis...
- Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutationM Deschauer
Department of Neurology, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, D 06097 Halle, Germany
Arch Neurol 58:1885-8. 2001..To determine whether there are common symptoms within different phenotypes of the mitochondrial DNA A3243G mutation...
- The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunitSherine S L Chan
Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
J Biol Chem 280:31341-6. 2005..We propose that reduced polymerase activity and loss of accessory subunit interaction are responsible for the depletion and deletion of mitochondrial DNA observed in patients with this POLG mutation...
- MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENSKeshav Singh; Fiscal Year: 2003..The proposed study will fill a major gap in our understanding of the mechanisms of mitDNA mutagenesis induced by environmental carcinogens which has direct relevance in on the induction of mitochondrial diseases. ..
- MAMMALIAN MITOCHONDRIAL DNA DOUBLE-STRAND-BREAK-REPAIRColin Campbell; Fiscal Year: 2003..If this provides to be the case, future studies could be devoted to the creation of similar gene inactivations in mice, thereby permitting a test of the hypothesis that accumulated mtDNA damage influences aging. ..
- Aging-related mitochondrial degeneration and degenerative diseasesXin Jie Chen; Fiscal Year: 2010..These "anti-degenerative" pathways may be potentially used as intervention targets for delaying the onset and progression of mitochondrial degeneration. ..
- Ant-induced cell death and human degenerative diseasesXin Jie Chen; Fiscal Year: 2007....
- Extraocular muscle aging: Functional and genomic changesFrancisco Andrade; Fiscal Year: 2004..and are preferentially targeted by conditions that have been linked to oxidative stress like chronic progressive external ophthalmoplegia and related disorders...
- Pathogenesis of a Novel Limb-Girdle Muscular DystrophyMichio Hirano; Fiscal Year: 2003..For the patients, achieving the proposed goals will allow more accurate prenatal diagnosis, genetic counseling, and perhaps contribute to more rational therapies in the future. ..
- Molecular Pathogenesis of Coenzyme Q10 DeficiencyMichio Hirano; Fiscal Year: 2010....
- Molecular Pathogenesis and Treatment of MNGIEMichio Hirano; Fiscal Year: 2010..We propose to study a mouse model to understand and to treat this disorder. Studies of MNGIE may be relevant to a variety of human diseases, aging, comprehending stability of genetic material, and possibly neurodegenerative diseases. ..
- Molecular Pathogenesis of Coenzyme Q10 DeficiencyMichio Hirano; Fiscal Year: 2009....
- CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASESalvatore DiMauro; Fiscal Year: 2007....
- DEFINING THE MECHANISM OF TDP-43 RELATED NEURODEGENERATIONROBERT HARRIS BALOH; Fiscal Year: 2010..We have developed a new mouse model of this disease, and are using it to better understand what causes nerve cells to degenerate in ALS, in order to design and test new treatments for the disease. ..
- CARDIOMYOPATHY IN AIDSWilliam Lewis; Fiscal Year: 2009..HYPOTHESIS 4: mtDNA depletion (from any above) causes or results from oxidative stress. Antioxidants ameliorate oxidative stress from NRTIs by decreasing oxidation of mtDNA. ..
- CARDIOMYOPATHY IN AIDSWilliam Lewis; Fiscal Year: 2001..Biosynthetic labeling of polypeptides is determined in isolated mitochondria. Altered expression of mtRNA and mitochondrial proteins reflect altered energy genesis. (End of Abstract) ..
- CARDIAC DYSFUNCTION, AIDS AND COCAINEWilliam Lewis; Fiscal Year: 2003..Immuno-LM and immuno-TEM identify cellular and subcellular alterations. ..
- AIDS and Alcohol and CardiomyopathyWilliam Lewis; Fiscal Year: 2005..Myofibrillar, nuclear and mitochondrial volumes are analyzed quantitatively (by transmission electron microscopy [TEM]). Volume fractions of extracellular matrix and of myocytes are determined morphometrically (light and TEM). ..
- Nucleoside analogs, mitochondria and AIDS cardiomyopathyWilliam Lewis; Fiscal Year: 2006..AIM 2: to define CM from HAART microscopically and ultrastructurally using morphometric methods. AIM 3: to define cardiac performance in CM from HAART echocardiographically and using Langendorff preparations. ..
- Mechanism of Peripheral Neuropathy from Mitofusin 2 MutationsRobert Baloh; Fiscal Year: 2007....