A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).

Data Correlations | 2 studies

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Genes	Score
SURF1	100
SOD2	90
BCS1L	74
NDUFS3	74
NDUFS7	74
SDHA	74

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Biogroups	Score
Acetylcholine Synthesis	100
Oxidative Phosphorylation	97
Valine Leucine and Isoleucine Biosy…	95
The Citric Acid Cycle (Kreb Pathway…	95
Electron Transport Reaction In Mito…	95
Malate Pathway	95

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Individual Studies

Mouse Phenotypes - Degenerative disease of the CNS Mus musculus |   Mutations/Phenotypic This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni… Source: NextBio Library/Mutation and Phenotypic data

OMIM - Degenerative disease of the central nervous system Homo sapiens |   Mutations/Phenotypic This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories. Source: NextBio Library/Mutation and Phenotypic data

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Literature | 1,024 results

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• NDUFA2 complex I mutation leads to Leigh disease.

  Authors: Saskia J G Hoefs, Cindy E J Dieteren, Felix Distelmaier, Rolf J R J Janssen, Andrea Epplen, Herman G P Swarts, Marleen Forkink, Richard J Rodenburg, Leo G Nijtmans, Peter H Willems,…

  American journal of human genetics 2008 Jun

• Leigh's disease due to a new mutation in the PDHX gene.

  Authors: Manuel Schiff, Manuele Miné, Michèle Brivet, Cécile Marsac, Monique Elmaleh-Bergés, Philippe Evrard, Hélène Ogier de Baulny

  Annals of neurology 2006 Apr

Associated Researchers

Thought leaders and organizations working on research involving Leigh's disease.

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• David R Thorburn
• Avihu Boneh
• D Piekutowska-Abramczuk
• E Karczmarewicz
• Salvatore DiMauro

View All Clinical Trials Sponsors

• Office of Rare Diseases (ORD)
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDD…
• Centers for Disease Control and Prevention
• University of Iowa
• National Heart, Lung, and Blood Institute (NHLBI)

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• Radboud University Nijmegen Medical Center
• Hôpital Robert Debré
• Children's Memorial Health Institute
• Mayo Clinic College of Medicine
• University of Melbourne

Clinical Trials | 38 trials

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• CIT-HD: Study in Huntington's Disease

  conditions: Huntington Disease ; Chorea ; Attention ; Executive Dysfunction

  interventions: 20mg qd citalopram or placebo

   

• Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease

  conditions: Kartagener Syndrome

  interventions: none

   

News | 1 story

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• Discovery of a genetic mutation underlying late-onset Leigh syndrome

  News-Medical. - August 11, 2009

Community

View All NextBio Users | 2 people

• Leigh  Hicks

• Paul  Wicks

  R&D Director

  PatientsLikeMe

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