What question did this study set out to answer?

To review the diverse biochemical, genetic, neuroradiological, and clinical landscape of Leigh syndrome, the most prevalent pediatric mitochondrial disorder.

October 28, 2015Annals of NeurologyOpen Access

Leigh syndrome: One disorder, more than 75 monogenic causes

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Authors

NLNicole J. LakeYale University ACAlison G. ComptonThe University of Melbourne SRShamima RahmanGreat Ormond Street Hospital for Children NHS Foundation Trust

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Implication

Literature review uncovers extensive genetic heterogeneity across 75 genes in Leigh syndrome, highlighting emerging genotype-phenotype correlations and diagnostic pathways.

Key Points

To review the diverse biochemical, genetic, neuroradiological, and clinical landscape of Leigh syndrome, the most prevalent pediatric mitochondrial disorder.
Review of clinical, neuroradiological, and metabolic markers used in the diagnosis of Leigh syndrome.
Synthesis of genetic discoveries across both mitochondrial and nuclear genomes, highlighting disease genes identified over the past 5 years.
Pathogenic mutations causing Leigh syndrome have been established in over 75 distinct genes across both the nuclear and mitochondrial genomes.
More than one-third of the causative disease genes were characterized within the last five years, expanding genotype-phenotype correlations and therapeutic strategies.

Cite This Study

Lake et al. (2015) studied this question.

synapsesocial.com/papers/69dc56594f901957bec10332 https://doi.org/10.1002/ana.24551

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Implication

Literature review uncovers extensive genetic heterogeneity across 75 genes in Leigh syndrome, highlighting emerging genotype-phenotype correlations and diagnostic pathways.

Leigh syndrome: One disorder, more than 75 monogenic causes

Discussion

Member takes

Implication

Key Points

Cite This Study

Leigh syndrome: One disorder, more than 75 monogenic causes

Discussion

Member takes

Implication

Key Points

Cite This Study

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