Lake, NJ;
Compton, AG;
Rahman, S;
Thorburn, DR;
(2016)
Leigh syndrome: One disorder, more than 75 monogenic causes.
Annals of Neurology
, 79
(2)
pp. 190-203.
10.1002/ana.24551.
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Abstract
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations in >75 genes have been identified, encoded by 2 genomes (mitochondrial and nuclear). More than one-third of these disease genes have been characterized in the past 5 years alone, reflecting the significant advances made in understanding its etiological basis. We review the diverse biochemical and genetic etiology of Leigh syndrome and associated clinical, neuroradiological, and metabolic features that can provide clues for diagnosis. We discuss the emergence of genotype-phenotype correlations, insights gleaned into the molecular basis of disease, and available therapeutic options. Ann Neurol 2016;79:190-203.
| Type: | Article |
|---|---|
| Title: | Leigh syndrome: One disorder, more than 75 monogenic causes. |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/ana.24551 |
| Publisher version: | http://dx.doi.org/10.1002/ana.24551 |
| Language: | English |
| Additional information: | This is the peer reviewed version of the following article Lake, NJ; Compton, AG; Rahman, S; Thorburn, DR; (2016) Leigh syndrome: One disorder, more than 75 monogenic causes. Annals of Neurology, 79 (2) pp. 190-203. 10.1002/ana.24551, which has been published in final form at http://dx.doi.org/10.1002/ana.24551. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1487423 |
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