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Leigh syndrome.

Shamima Rahman1

  • 1Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Metabolic Medicine Department, Great Ormond Street Hospital for Children, London, United Kingdom.

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|February 22, 2023
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Summary
This summary is machine-generated.

Leigh syndrome, a neurodegenerative disorder, involves over 100 genetic causes affecting mitochondrial function and metabolism. Diagnosis and management strategies are crucial for this complex condition.

Keywords:
DiagnosisGeneticsHistoryLeigh syndromeNeuropathologyPathomechanismsSubacute necrotizing encephalomyelopathyTreatment

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Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Leigh syndrome, or subacute necrotizing encephalomyelopathy, is a complex neurodegenerative disorder.
  • Characterized by bilateral symmetrical lesions in the central nervous system, it typically presents in infancy or early childhood but can have late-onset forms.

Approach:

  • This chapter reviews clinical, biochemical, and neuropathological aspects of Leigh syndrome.
  • It categorizes known genetic causes, including mitochondrial DNA (mtDNA) and nuclear gene defects, into functional groups.
  • Discusses diagnostic approaches, treatable causes, and current/emerging therapies.

Key Points:

  • Leigh syndrome encompasses over 100 monogenic disorders with significant clinical and biochemical heterogeneity.
  • Genetic defects involve oxidative phosphorylation, pyruvate metabolism, mtDNA maintenance, and mitochondrial gene expression.
  • Pathomechanisms, diagnosis, and management strategies are presented.

Conclusions:

  • Understanding the genetic and biochemical basis of Leigh syndrome is key to diagnosis and treatment.
  • Diverse genetic causes highlight the complexity of mitochondrial function and its impact on neurodegeneration.
  • Ongoing research into emerging therapies offers hope for improved patient outcomes.