Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2015 Oct 1 [updated 2025 May 1].

Shamima Rahman¹, David R Thorburn^{2

3

4}, Megan Ball^{3

4

5}

¹ Professor of Paediatric Metabolic Medicine, Genetics and Genomic Medicine Programme, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom
² Senior Principal Research Fellow, Murdoch Children's Research Institute and Genetic Health Services Victoria, Victoria, Australia
³ Royal Children's Hospital, Victoria, Australia
⁴ Department of Paediatrics, University of Melbourne, Melbourne, Australia
⁵ Metabolic Fellow, PhD Candidate, Murdoch Children's Research Institute, Victoria, Australia

Excerpt

The purpose of this overview is to:

1
Briefly describe the clinical characteristics of nuclear gene-encoded Leigh syndrome spectrum (LSS);
2
Review the genetic causes of nuclear gene-encoded LSS;
3
Review the differential diagnosis of nuclear gene-encoded LSS with a focus on genetic conditions;
4
Provide an evaluation strategy to identify the genetic cause of nuclear gene-encoded LSS in a proband (when possible);
5
Review management of nuclear gene-encoded LSS with a focus on disorders with targeted therapies;
6
Inform genetic counseling of family members of an individual with nuclear gene-encoded LSS.