2018
DOI: 10.1111/cge.13139
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Management of Leigh syndrome: Current status and new insights

Abstract: Leigh syndrome (LS) is an inherited mitochondrial encephalopathy associated with gene mutations of oxidative phosphorylation pathway that result in early disability and death in affected young children. Currently, LS is incurable and unresponsive to many treatments, although some case reports indicate that supplements can improve the condition. Many novel therapies are being continuously tested in pre-clinical studies. In this review, we summarize the genetic basis of LS, current treatment, pre-clinical studie… Show more

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Cited by 25 publications
(45 citation statements)
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References 93 publications
(172 reference statements)
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“…LS is clinically recognized as an early‐onset, fatal neurodegenerative disorder with few specific treatment options. No curative treatments aside from supportive care and a multivitamin cocktail have been available, although some in vitro and in vivo studies on Ndufs4 knockout mouse models and clinical trials for novel treatments have been conducted . Recently, a high‐dose thiamine‐biotin combination treatment for LS patients with SLC19A3 mutations was shown to afford clinical improvement and prevent neurologic dysfunction .…”
Section: Discussionmentioning
confidence: 99%
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“…LS is clinically recognized as an early‐onset, fatal neurodegenerative disorder with few specific treatment options. No curative treatments aside from supportive care and a multivitamin cocktail have been available, although some in vitro and in vivo studies on Ndufs4 knockout mouse models and clinical trials for novel treatments have been conducted . Recently, a high‐dose thiamine‐biotin combination treatment for LS patients with SLC19A3 mutations was shown to afford clinical improvement and prevent neurologic dysfunction .…”
Section: Discussionmentioning
confidence: 99%
“…Our advanced, deep bioinformatic analysis overcame some limitations in capture and coverage of WES, leading to a high diagnostic yield rate. Uncovering molecular defects can help us understand the complex pathogenesis of LS, paving the way for development of curative treatment options and potential therapeutic strategies, including stem cell‐derived mitochondrial donation or CRISPR/Cas9 genome editing . In genetically unsolved cases, RNA sequencing of muscle biopsy or induced pluripotent stem cells might be needed.…”
Section: Discussionmentioning
confidence: 99%
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