81. Untitled Document POLG, G02750, YOR330C, class III, Progressive external ophthalmoplegia withmitochondrial not measured, chronic progressive external ophthalmoplegia, http://www-deletion.stanford.edu/YDPM/doc/mtdisease_yeasthomolog.html

Web Table B. Yeast orthologs to known human mitochondrial disease genes gene name protein ID yeast ortholog homozygous deletion disease class III Wilson disease (WD) BCKDHA DEHUXA class III Maple syrup urine disease (MSUD) BCKDHB class III Maple syrup urine disease (MSUD) class III Tubulopathy, encephalopathy, and liver failure due to CIII deficiency class III Deficiency of complex IV DBT class III Maple syrup urine disease (MSUD) DLD DEHULP class III Dihydrolipoamide dehydrogenase deficiency;Leigh syndrome FH UFHUM class III Deficiency of fumarate hydratase GCSH GCHUH class III Non-ketotic hyperglycinemia, type III (NKH3) HHH class III Deficiency of ornithine translocase class III Deficiency of MTHFD1 DEHUPA class III Pyruvate dehydrogenase deficiency;Leigh syndrome class III Pyruvate dehydrogenase deficiency POLG class III Progressive external ophthalmoplegia with mitochondrial DNA deletions (PEO); Involved in male infertility (MI)

82. Ophthalmoplegia As with most chronic neurologic diseases, mortality increases with disability . Rowland, LP progressive external ophthalmoplegia and Ocular Myopathies. http://www.healthatoz.com/healthatoz/Atoz/ency/ophthalmoplegia.jsp

83. Progressive External Ophthalmoplegia progressive external ophthalmoplegia unknown. Synonyms. chronic dystrophicophthalmoplegia. ICD9-CM 378.72 progressive external ophthalmoplegia http://www.5mcc.com/Assets/SUMMARY/TP0745.html

Progressive external ophthalmoplegia DESCRIPTION: Slowly progressive bilateral myopathy affecting the extraocular muscles. Characteristics - weakness of levators of the upper lids, ptosis, followed by total ocular paresis. Usual course - chronic; progressive. CAUSES: unknown Synonyms: chronic dystrophic ophthalmoplegia ICD-9-CM: 378.72 progressive external ophthalmoplegia Author(s): Mark R. Dambro, MD

84. Ophthalmoplegia progressive external ophthalmoplegia is sometimes associated with As withmost chronic neurologic diseases, mortality increases with disability. http://www.chclibrary.org/micromed/00058920.html

Main Search Index Definition Description Causes ... Resources Ophthalmoplegia Definition Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. The condition can be caused by any of several neurologic disorders. It may be myopathic, meaning that the muscles controlling eye movement are directly involved, or neurogenic, meaning that the nerve pathways controlling eye muscles are affected. Diseases associated with ophthalmoplegia are ocular myopathy, which affects muscles, and internuclear ophthalmoplegia, a disorder caused by multiple sclerosis , a disease which affects nerves. Description Because the eyes do not move together in ophthalmoplegia, patients may complain of double vision. Double vision is especially troublesome if the ophthalmoplegia comes on suddenly or affects each eye differently. Because ophthalmoplegia is caused by another, underlying disease, it is often associated with other neurologic symptoms, including limb weakness, lack of coordination, and numbness. Ocular myopathy is also known as mitochondrial encephalomyelopathy with ophthalmoplegia or progressive external ophthalmoplegia. Because it is so often associated with diseases affecting many levels of the neurologic system, it is often referred to as "ophthalmoplegia plus." The main feature is progressive limitation of eye movements, usually with drooping of the eyelids (

85. MeSH-D Terms Associated To MeSH-C Term Ophthalmoplegia, Chronic The number indicates the strength of the association of the corresponding termto ophthalmoplegia, chronic progressive external. 0.026517 DNA, Mitochondrial http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Ophthalmoplegia,_Chronic_Progressi

86. Kearns-Sayer Syndrome - Kearns Syndrome - Information Page With HONselect Broader term(s) ophthalmoplegia, chronic progressive external - MitochondrialMyopathies - Muscular Diseases - Musculoskeletal Diseases - Retinitis http://www.hon.ch/HONselect/RareDiseases/EN/C05.651.460.700.500.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Kearns-Sayer Syndrome": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Kearns-Sayer Syndrome Definition: A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA , cardiomyopathy ( CARDIOMYOPATHIES ) with conduction block ( HEART BLOCK ), and RETINITIS PIGMENTOSA . Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984) Synonym(s): Kearns Syndrome / Kearn-Sayre Mitochondrial Cytopathy / Kearns' Syndrome / Kearns-Sayre-Shy-Daroff Syndrome / See Related: Cardiomyopathies Ophthalmoplegia Retinitis Pigmentosa Heart Block ... New search Web resources for "Kearns-Sayer Syndrome" French German No results for this term.

87. Progressive External Ophthalmoplegia Retinal pigmentary degeneration with progressive external ophthalmoplegia chronic asymmetric progressive external ophthalmoplegia with right facial http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=442

88. The EyePathologist Disease - O ophthalmoplegia chronic progressive external with myopathy - Klintworth, Gordon K.ophthalmoplegia - congenital - Engle, Elizabeth C. http://www.eyepathologist.com/LIST.ASP?Title=O

89. Mitochondrial Disorders Usually Normal or Mildly elevated; High chronic progressive externalophthalmoplegia (CPEO) Ptosis; PEO + (progressive external ophthalmoplegia) http://www.neuro.wustl.edu/neuromuscular/mitosyn.html

Front Search Index Links ... Patient Info MITOCHONDRIAL DISORDERS Biochemical Pathways Fatty acid oxidation Oxidative phosphorylation Mitochondria General features Mitochondrial DNA (mtDNA) General Features Mutations Nuclear encoded proteins General Features Mutations Mitochondrial disorders Biochemical classification ... Clinical syndromes Evaluation Clinical Signs Laboratory General mechanisms Mutation types ... Functional defects Pathology Histology Ultrastructure Mitochondria: General Origin of mitochondria Primordial eukaryotic cells lacked ability to use oxygen metabolically Colonized by aerobic bacteria Intracellular aerobic bacteria Added oxidative metabolism to cells Evolved into mitochondria Time: 10 years ago Structural features of mitochondria: 4 compartments Outer membrane Inner membrane: Composed predominantly of cardiolipin Matrix: Region inside inner membrane Mitochondrial DNA (mtDNA) Only organelle other than nucleus with own DNA Different structure than nuclear DNA Functions of mitochondria Pyruvate oxidation: Disorders Krebs cycle Metaboloism: Amino acids;

90. Baylor Neurology Case Of The Month progressive external ophthalmoplegia, cardiac conduction block, retinaldegeneration, chronic Inflammatory Demyelinating Polyneuropathy (CIDP) http://www.bcm.edu/neurology/challeng/pat15/summary.html

Summary and Discussion Albert Yen, M.D. Resident, Department of Neurology Diagnosis: CIDP involving Ocular Cranial Nerves The key issue was whether or not the patient's diplopia was related in etiology to her progressive weakness. Conditions which can cause both extremity weakness and ophthalmoparesis include: The EMG revealed a polyneuropathy, not myopathy or neuromuscular junction deficit. The absence of a decremental response during repetitive nerve stimulation and the negative Tensilon test also did not support this diagnosis. Moreover, this would be a late age for the initial presentation of MG. Diabetes: Although diabetes can cause almost any type of neuropathy, the most common pattern is a distal, symmetrical sensorimotor polyneuropathy that is primarily axonal in nature. Cranial nerve infarcts may lead to eye motility problems in diabetics, but this usually involves an acute, painful onset of ophthalmoparesis, and would be unlikely to involve four separate cranial nerves. In this patient, both the glucose tolerance test and the glycosylated hemoglobin level were normal, effectively ruling out diabetes. The Miller Fisher variant accounts for about 5 percent of GBS cases and is characterized by total external ophthalmoplegia, ataxia, and areflexia. Elevated anti-GQ1b ganglioside antibodies are consistently found. In this patient, the progressive extremity weakness for several months prior to the onset of diplopia is not consistent with GBS.

91. 530000 KEARNS-SAYRE SYNDROME; KSS ophthalmoplegia, progressive external, WITH RAGGEDRED FIBERS chronic progressiveexternal ophthalmoplegia WITH MYOPATHY CPEO WITH MYOPATHY http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:530000] -e

92. NEJM -- Mitochondrial DNA Deletions In Progressive External Ophthalmoplegia And chronic asymmetric progressive external ophthalmoplegia with right facial weaknessa unique presentation of mitochondrial myopathy. J. Neurol. Neurosurg. http://content.nejm.org/cgi/content/abstract/320/20/1293

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Volume 320:1293-1299 May 18, 1989 Number 20 Next Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome CT Moraes, S DiMauro, M Zeviani, A Lombes, S Shanske, AF Miranda, H Nakase, E Bonilla, LC Werneck, S Servidei, and et al. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Source Information H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York, NY 10032. This article has been cited by other articles: Barragan-Campos, H. M., Vallee, J.-N., Lo, D., Barrera-Ramirez, C. F., Argote-Greene, M., Sanchez-Guerrero, J., Estanol, B., Guillevin, R., Chiras, J. (2005). Brain Magnetic Resonance Imaging Findings in Patients With Mitochondrial Cytopathies. Arch Neurol [Abstract] [Full Text] Remes, A. M., Majamaa-Voltti, K., Karppa, M., Moilanen, J. S., Uimonen, S., Helander, H., Rusanen, H., Salmela, P. I., Sorri, M., Hassinen, I. E., Majamaa, K. (2005). Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Neurology [Abstract] [Full Text] Michaelides, M, Moore, A T (2004). The genetics of strabismus.

93. Spontaneous Kearns-Sayre/Chronic External Ophthalmoplegia Plus Syndrome Associat The muscle mitochondria of a patient with KearnsSayre/chronic external Autosomal dominant progressive external ophthalmoplegia Distribution of http://www.pnas.org/cgi/content/abstract/86/20/7952

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Shoffner, J. M. Articles by Wallace, D. C. October 15, 1989 Spontaneous Kearns-Sayre/Chronic External Ophthalmoplegia Plus Syndrome Associated with a Mitochondrial DNA Deletion: A Slip-Replication Model and Metabolic Therapy John M. Shoffner, Marie T. Lott, Alexander S. Voljavec, Shawke A. Soueidan, Donal A. Costigan, and Douglas C. Wallace This article has been cited by other articles in HighWire Press -hosted journals: A. M. Remes, K. Majamaa-Voltti, M. Karppa, J. S. Moilanen, S. Uimonen, H. Helander, H. Rusanen, P. I. Salmela, M. Sorri, I. E. Hassinen, and K. Majamaa Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population Neurology, March 22, 2005; 64(6): 976 - 981.

94. SMIL - Skandinavisk Medisinsk Informasjon For Legfolk Øjensygdomme ophthalmoplegia, chronic progressive external . CPEO. dansk.CPEO er en kronisk fremadskridende lammelse af de ydre øjenmuskler, http://www.smil.uio.no/index.php?language=7&columns=3&action=subject&letter=O&su

95. BioMed Central | Full Text | Chronic Progressive External Ophthalmoplegia To obtain access to Current Neurology and Neuroscience Reports through yourinstitution use the options below. If you would like information about a http://www.biomedcentral.com/1528-4042/2/413

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96. Max Planck Society - EDoc Server Document title Executive and visuospatial deficits in patients with chronicprogressive external ophthalmoplegia and KearnsSayre syndrome http://edoc.mpg.de/177290

Home News About Us Contact ... Home Search Quick Search Advanced Fulltext Browse Collections Persons My eDoc Session History Login Name: Password: Documentation Help Display Documents Entries 1-1 of 1 history ID: , MPI f¼r Kognitions- und Neurowissenschaften, Arbeitsbereich Psychologie M¼nchen / Psychologische Forschung Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome Authors: Bosbach, Simone Kornblum, C. Schr¶der, R. Wagner, M. Document type: Article Audience: Not Specified Review Status: not specified Intended Educational Use: No External Publication Status: published Date of Publication (YYYY-MM-DD): Start Page: End Page: Title of Journal: Brain Volume: Communicated by: Frank Halisch Affiliations: MPI f¼r Kognitions- und Neurowissenschaften, Arbeitsbereich Psychologie Identifiers: LOCALID:P5125 Entries 1-1 of 1 The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.

97. MR Of Extraocular Muscles In Chronic Progressive External Ophthalmoplegia -- Car http://www.ajnr.org/cgi/reprint/19/1/95

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98. CSH/Sjældne Handicap/Korte/CPEO venstre på Services to health professionals , dernæst på Disease øversttil venstre og skriv så progressive external ophthalmoplegia i søgefeltet. http://www.csh.dk/sjaeldne_handicap/korte/CPEO.html

CPEO (Chronic progressive external ophthalmoplegia) CPEO tilhører gruppen af mitokondrie-sygdomme CPEO er en kronisk fremadskridende lammelse af de ydre øjenmuskler, mens de indre øjenmuskler er intak-te. Hvis lammelsen forekommer dobbeltsidigt, kan det medføre et stift ansigtsudtryk med hængende øjenlåg. Dertil kan man også have ændret pigmentering af nethinden (retinitis pigmentosa), svage lemmer og generelt være plaget af forøget træthed. CPEO viser sig efter 20-års-alderen. Med tiden kan man udvikle døvhed, miste sine reflekser, få forhøjet mælkesyreindholdet i blodet, få koordinationsbesvær og noget der ligner slagtilfælde. CPEO beskrives ofte som en mildere grad af Kearns-Sayre Syndrom, hvor der er flere mitokondrier med muteret DNA. Og i mod-sætning til Kearns-Sayre syndrom, har CPEO ofte et godartet forløb. Diagnosen stilles bl.a. ved hjælp af arbejdstests, hvor man bl.a. måler kroppens oxygenoptagelse, blodprøver, muskelbiopsier og genetiske analyser. Muskelbiopsier giver ofte entydige svar i den diagnostiske udredning af CPEO. Der findes ingen helbredende behandling, kun symptombehandling. CPEO skyldes sædvanligvis en spontan mutation, og man vil derfor sjældent have oplevet syndromet tidligere i familiens historie.

99. Ophthalmoplegia URL http//www.lifesteps.com/gm/Atoz/ency/ophthalmoplegia.jsp Rowland,LP progressive external ophthalmoplegia and Ocular Myopathies. http://www.lifesteps.com/gm/Atoz/ency/ophthalmoplegia_pr.jsp

100. Diagnosis Case 12 Mitochondrial disorders can also show progressive external phenotype correspondsto the socalled progressive external ophthalmoplegia plus pattern. http://sprojects.mmi.mcgill.ca/neuropath/case12/12diag.htm

Final Diagnosis Mitochondrial Myopathy The differential diagnosis of this patient's weakness, ptosis, and progressive opthalmoplegia includes two main possibilities: myasthenia gravis (or other neuromuscular junction disorder) and a mitochondrial disorder. The fatigability on examination and the positive tensilon test argue in favor of the diagnosis of myasthenia gravis. However, this diagnosis was not supported by the negative acetylcholine receptor antibodies and the electrodiagnostic studies, which have sensitivities of 85% and over 90% respectively in myasthenia gravis. Mitochondrial disorders can also show progressive external opthalmoplegia and weakness, but are more rare. The muscle biopsy was done to verify the possibility of a mitochondrial myopathy and, in fact, confirmed it. Microscopy Discussion: The biopsy shows a florid mitochondrial myopathy. The clinical phenotype corresponds to the so-called progressive external ophthalmoplegia plus pattern. In the vast majority of these cases, a common deletion in the mitochondrial DNA can be found. In this patient however, mitochondrial DNA analysis failed to show such a defect or for that matter any of the common mutations known to occur in mitochondrial diseases. This raises the possibility of a defect in one of the nuclear-encoded subunits of cytochrome oxidase being responsible for this disease. Alternatively, this could represent a novel mitochondrial DNA mutation. The patient's family history was not helpful in that regard.

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