Leigh syndrome: One disorder, more than 75 monogenic causes

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 disea...

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Bibliographic Details
Published in:Annals of neurology 2016-02, Vol.79 (2), p.190-203
Main Authors: Lake, Nicole J., Compton, Alison G., Rahman, Shamima, Thorburn, David R.
Format: Article
Language:English
Subjects:
Animals
Etiology
Genes
Genetic diversity
Genomes
Humans
Leigh Disease - genetics
Leigh Disease - pathology
Leigh Disease - physiopathology
Mitochondria
Mutation
Neurodegenerative diseases
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Summary: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
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.24551