The genetics of Leigh syndrome and its implications for clinical practice and risk management
Ilene S Ruhoy, Russell P Saneto Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA, USAAbstract: Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentles...
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| Format: | Article |
| Language: | English |
| Published: |
Dove Medical Press
2014-11-01
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| Series: | The Application of Clinical Genetics |
| Online Access: | http://www.dovepress.com/the-genetics-of-leigh-syndrome-and-its-implications-for-clinical-pract-peer-reviewed-article-TACG |
| _version_ | 1811250418025496576 |
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| author | Ruhoy IS Saneto RP |
| author_facet | Ruhoy IS Saneto RP |
| author_sort | Ruhoy IS |
| collection | DOAJ |
| description | Ilene S Ruhoy, Russell P Saneto Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA, USAAbstract: Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient's family. Attributed to the ultimate failure of the mitochondrial respiratory chain, once it starts, the disease often results in the regression of both mental and motor skills, leading to disability and rapid progression to death. It is a mitochondrial disorder with both phenotypic and genetic heterogeneity. The cause of death is most often respiratory failure, but there are a whole host of complications, including refractory seizures, that may further complicate morbidity and mortality. The symptoms may develop slowly or with rapid progression, usually associated with age of onset. Although the disease is usually diagnosed within the first year of life, it is important to note that recent studies reveal phenotypic heterogeneity, with some patients having evidence of in utero presentation and others having adult-onset symptoms.Keywords: mitochondrial disorder, neurodegeneration, multisystemic disease, oxidative phosphorylation, mitochondrial DNA, neuroimaging, seizures |
| first_indexed | 2024-04-12T16:04:25Z |
| format | Article |
| id | doaj.art-5de0b7a3e55f497f8a1bf124422332dd |
| institution | Directory Open Access Journal |
| issn | 1178-704X |
| language | English |
| last_indexed | 2024-04-12T16:04:25Z |
| publishDate | 2014-11-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | The Application of Clinical Genetics |
| spelling | doaj.art-5de0b7a3e55f497f8a1bf124422332dd2022-12-22T03:26:07ZengDove Medical PressThe Application of Clinical Genetics1178-704X2014-11-012014default22123419134The genetics of Leigh syndrome and its implications for clinical practice and risk managementRuhoy ISSaneto RPIlene S Ruhoy, Russell P Saneto Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA, USAAbstract: Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient's family. Attributed to the ultimate failure of the mitochondrial respiratory chain, once it starts, the disease often results in the regression of both mental and motor skills, leading to disability and rapid progression to death. It is a mitochondrial disorder with both phenotypic and genetic heterogeneity. The cause of death is most often respiratory failure, but there are a whole host of complications, including refractory seizures, that may further complicate morbidity and mortality. The symptoms may develop slowly or with rapid progression, usually associated with age of onset. Although the disease is usually diagnosed within the first year of life, it is important to note that recent studies reveal phenotypic heterogeneity, with some patients having evidence of in utero presentation and others having adult-onset symptoms.Keywords: mitochondrial disorder, neurodegeneration, multisystemic disease, oxidative phosphorylation, mitochondrial DNA, neuroimaging, seizureshttp://www.dovepress.com/the-genetics-of-leigh-syndrome-and-its-implications-for-clinical-pract-peer-reviewed-article-TACG |
| spellingShingle | Ruhoy IS Saneto RP The genetics of Leigh syndrome and its implications for clinical practice and risk management The Application of Clinical Genetics |
| title | The genetics of Leigh syndrome and its implications for clinical practice and risk management |
| title_full | The genetics of Leigh syndrome and its implications for clinical practice and risk management |
| title_fullStr | The genetics of Leigh syndrome and its implications for clinical practice and risk management |
| title_full_unstemmed | The genetics of Leigh syndrome and its implications for clinical practice and risk management |
| title_short | The genetics of Leigh syndrome and its implications for clinical practice and risk management |
| title_sort | genetics of leigh syndrome and its implications for clinical practice and risk management |
| url | http://www.dovepress.com/the-genetics-of-leigh-syndrome-and-its-implications-for-clinical-pract-peer-reviewed-article-TACG |
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