Motor neuron disease in a patient with a mitochondrial tRNAIle mutation
Objective Motor neuron disease (MND) is a common neurodegenerative condition for which the underlying cause is uncertain in many patients. We identified a patient with clinical features suggestive of MND but additional cardiac and metabolic symptoms. We wished to determine if the clinical features w...
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| Veröffentlicht in: | Annals of neurology 2006-03, Vol.59 (3), p.570-574 |
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| container_title | Annals of neurology |
| container_volume | 59 |
| creator | Borthwick, Gillian M. Taylor, Robert W. Walls, Timothy J. Tonska, Kasia Taylor, Geoffrey A. Shaw, Pamela J. Ince, Paul G. Turnbull, Douglass M. |
| description | Objective
Motor neuron disease (MND) is a common neurodegenerative condition for which the underlying cause is uncertain in many patients. We identified a patient with clinical features suggestive of MND but additional cardiac and metabolic symptoms. We wished to determine if the clinical features were due to a mitochondrial DNA mutation.
Methods
The brain and spinal cord were studied using neuropathological techniques and agenetic defect investigated in individual neurons.
Results
There were atypical neuropathological features and genetic studies identified a pathogenic, heteroplasmic mitochondria tRNAIle (4274T>C) mutation.
Interpretation
This case adds to the phenotypic variation seen in mitochondrial DNA disease but also highlights the potential role of mitochondrial dysfunction in the cause of MND. Ann Neurol 2006 |
| doi_str_mv | 10.1002/ana.20758 |
| format | Article |
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Motor neuron disease (MND) is a common neurodegenerative condition for which the underlying cause is uncertain in many patients. We identified a patient with clinical features suggestive of MND but additional cardiac and metabolic symptoms. We wished to determine if the clinical features were due to a mitochondrial DNA mutation.
Methods
The brain and spinal cord were studied using neuropathological techniques and agenetic defect investigated in individual neurons.
Results
There were atypical neuropathological features and genetic studies identified a pathogenic, heteroplasmic mitochondria tRNAIle (4274T>C) mutation.
Interpretation
This case adds to the phenotypic variation seen in mitochondrial DNA disease but also highlights the potential role of mitochondrial dysfunction in the cause of MND. Ann Neurol 2006</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.20758</identifier><identifier>PMID: 16358336</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Aged ; Biological and medical sciences ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Mutational Analysis - methods ; DNA, Mitochondrial - genetics ; Electron Transport Complex IV - metabolism ; Humans ; Immunohistochemistry - methods ; Male ; Medical sciences ; Motor Neuron Disease - genetics ; Motor Neuron Disease - metabolism ; Motor Neuron Disease - pathology ; Motor Neurons - metabolism ; Motor Neurons - pathology ; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis ; Mutation ; Neurology ; Reverse Transcriptase Polymerase Chain Reaction - methods ; RNA, Messenger - biosynthesis ; RNA, Transfer, Ile - genetics ; Succinate Dehydrogenase - metabolism</subject><ispartof>Annals of neurology, 2006-03, Vol.59 (3), p.570-574</ispartof><rights>Copyright © 2005 American Neurological Association</rights><rights>2006 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fana.20758$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.20758$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,782,786,1419,27931,27932,45581,45582</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17606199$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16358336$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Borthwick, Gillian M.</creatorcontrib><creatorcontrib>Taylor, Robert W.</creatorcontrib><creatorcontrib>Walls, Timothy J.</creatorcontrib><creatorcontrib>Tonska, Kasia</creatorcontrib><creatorcontrib>Taylor, Geoffrey A.</creatorcontrib><creatorcontrib>Shaw, Pamela J.</creatorcontrib><creatorcontrib>Ince, Paul G.</creatorcontrib><creatorcontrib>Turnbull, Douglass M.</creatorcontrib><title>Motor neuron disease in a patient with a mitochondrial tRNAIle mutation</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Objective
Motor neuron disease (MND) is a common neurodegenerative condition for which the underlying cause is uncertain in many patients. We identified a patient with clinical features suggestive of MND but additional cardiac and metabolic symptoms. We wished to determine if the clinical features were due to a mitochondrial DNA mutation.
Methods
The brain and spinal cord were studied using neuropathological techniques and agenetic defect investigated in individual neurons.
Results
There were atypical neuropathological features and genetic studies identified a pathogenic, heteroplasmic mitochondria tRNAIle (4274T>C) mutation.
Interpretation
This case adds to the phenotypic variation seen in mitochondrial DNA disease but also highlights the potential role of mitochondrial dysfunction in the cause of MND. Ann Neurol 2006</description><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Mutational Analysis - methods</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Electron Transport Complex IV - metabolism</subject><subject>Humans</subject><subject>Immunohistochemistry - methods</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Motor Neuron Disease - genetics</subject><subject>Motor Neuron Disease - metabolism</subject><subject>Motor Neuron Disease - pathology</subject><subject>Motor Neurons - metabolism</subject><subject>Motor Neurons - pathology</subject><subject>Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Reverse Transcriptase Polymerase Chain Reaction - methods</subject><subject>RNA, Messenger - biosynthesis</subject><subject>RNA, Transfer, Ile - genetics</subject><subject>Succinate Dehydrogenase - metabolism</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkMtOwzAQRS0EoqWw4AdQNrALtePEcZYVglIEBQECiY01sR1hSJxiOyr9ewItsJoZzbnzuAgdEnxKME7GYOE0wXnGt9CQZJTEPEmLbTTElKVxRmg6QHvev2GMC0bwLhoQRjNOKRui6U0bWhdZ3bnWRsp4DV5HxkYQLSAYbUO0NOG1LxsTWvnaWuUM1FG4n09mtY6aLvRYa_fRTgW11webOEKPF-ePZ5fx9e10dja5jg1hCY8zRoq0SCmXqiS0BNApg5znEniVECV5VqYKEy45V5IqIDktOMW80KrSZUFH6GQ9duHaj077IBrjpa5rsLrtvGA540WSZD14tAG7stFKLJxpwK3E7-c9cLwBwEuoKwdWGv_P5Qz3t35vHK-5pan16r-Pxbf1orde_FgvJvPJT9Ir4rXC-KA__xTg3vvzaJ6J5_lUPJE7_JBc3YsX-gVYdYP7</recordid><startdate>200603</startdate><enddate>200603</enddate><creator>Borthwick, Gillian M.</creator><creator>Taylor, Robert W.</creator><creator>Walls, Timothy J.</creator><creator>Tonska, Kasia</creator><creator>Taylor, Geoffrey A.</creator><creator>Shaw, Pamela J.</creator><creator>Ince, Paul G.</creator><creator>Turnbull, Douglass M.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Willey-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200603</creationdate><title>Motor neuron disease in a patient with a mitochondrial tRNAIle mutation</title><author>Borthwick, Gillian M. ; Taylor, Robert W. ; Walls, Timothy J. ; Tonska, Kasia ; Taylor, Geoffrey A. ; Shaw, Pamela J. ; Ince, Paul G. ; Turnbull, Douglass M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-i1628-561949438cdb13baae46a787ca8f21dc85b4d018c88dc3da173983089edfeb93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DNA Mutational Analysis - methods</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Electron Transport Complex IV - metabolism</topic><topic>Humans</topic><topic>Immunohistochemistry - methods</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Motor Neuron Disease - genetics</topic><topic>Motor Neuron Disease - metabolism</topic><topic>Motor Neuron Disease - pathology</topic><topic>Motor Neurons - metabolism</topic><topic>Motor Neurons - pathology</topic><topic>Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Reverse Transcriptase Polymerase Chain Reaction - methods</topic><topic>RNA, Messenger - biosynthesis</topic><topic>RNA, Transfer, Ile - genetics</topic><topic>Succinate Dehydrogenase - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Borthwick, Gillian M.</creatorcontrib><creatorcontrib>Taylor, Robert W.</creatorcontrib><creatorcontrib>Walls, Timothy J.</creatorcontrib><creatorcontrib>Tonska, Kasia</creatorcontrib><creatorcontrib>Taylor, Geoffrey A.</creatorcontrib><creatorcontrib>Shaw, Pamela J.</creatorcontrib><creatorcontrib>Ince, Paul G.</creatorcontrib><creatorcontrib>Turnbull, Douglass M.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Annals of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Borthwick, Gillian M.</au><au>Taylor, Robert W.</au><au>Walls, Timothy J.</au><au>Tonska, Kasia</au><au>Taylor, Geoffrey A.</au><au>Shaw, Pamela J.</au><au>Ince, Paul G.</au><au>Turnbull, Douglass M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Motor neuron disease in a patient with a mitochondrial tRNAIle mutation</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2006-03</date><risdate>2006</risdate><volume>59</volume><issue>3</issue><spage>570</spage><epage>574</epage><pages>570-574</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><coden>ANNED3</coden><abstract>Objective
Motor neuron disease (MND) is a common neurodegenerative condition for which the underlying cause is uncertain in many patients. We identified a patient with clinical features suggestive of MND but additional cardiac and metabolic symptoms. We wished to determine if the clinical features were due to a mitochondrial DNA mutation.
Methods
The brain and spinal cord were studied using neuropathological techniques and agenetic defect investigated in individual neurons.
Results
There were atypical neuropathological features and genetic studies identified a pathogenic, heteroplasmic mitochondria tRNAIle (4274T>C) mutation.
Interpretation
This case adds to the phenotypic variation seen in mitochondrial DNA disease but also highlights the potential role of mitochondrial dysfunction in the cause of MND. Ann Neurol 2006</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>16358336</pmid><doi>10.1002/ana.20758</doi><tpages>5</tpages></addata></record> |
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| ispartof | Annals of neurology, 2006-03, Vol.59 (3), p.570-574 |
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| source | MEDLINE; Access via Wiley Online Library |
| subjects | Aged Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis - methods DNA, Mitochondrial - genetics Electron Transport Complex IV - metabolism Humans Immunohistochemistry - methods Male Medical sciences Motor Neuron Disease - genetics Motor Neuron Disease - metabolism Motor Neuron Disease - pathology Motor Neurons - metabolism Motor Neurons - pathology Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Mutation Neurology Reverse Transcriptase Polymerase Chain Reaction - methods RNA, Messenger - biosynthesis RNA, Transfer, Ile - genetics Succinate Dehydrogenase - metabolism |
| title | Motor neuron disease in a patient with a mitochondrial tRNAIle mutation |
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