Leigh syndrome

Common Name(s)

Leigh syndrome, Leigh's disease

Leigh syndrome is a rare inherited degenerative neurological condition that affects the central nervous system. It usually begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Signs and symptoms usually progress rapidly. The earliest signs may be poor sucking ability, and the loss of head control and motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. There are several different gene mutations that can cause this condition. Leigh syndrome can be caused by mutations in mitochondrial DNA or nuclear DNA.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leigh syndrome" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

Last Updated: 28 Jul 2015

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leigh syndrome" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Jul 2015

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General Resources

UMDF National Resource Guide

The UMDF Mitochondrial Resource Guide is available Online! It represents many hours of searching for the best information and resources to help you care for yourself and/or your family member affected by a mitochondrial disease.

Updated 29 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Leigh syndrome" returned 67 free, full-text research articles on human participants. First 3 results:

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
 

Author(s): Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin

Journal:

 

Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous ...

Last Updated: 26 Mar 2015

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Impact commentaries. Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome).
 

Author(s): P N Leigh, S Al-Sarraj, S DiMauro

Journal: J. Neurol. Neurosurg. Psychiatr.. 2015 Apr;86(4):363-5.

 

Last Updated: 15 Mar 2015

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Leigh syndrome: the genetic heterogeneity story continues.
 

Author(s): Mike Gerards

Journal: Brain. 2014 Nov;137(Pt 11):2872-3.

 

Last Updated: 25 Oct 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Leigh syndrome" returned 5 free, full-text review articles on human participants. First 3 results:

Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.
 

Author(s): Rebecca J Levy, Purificación Gutierrez Ríos, Hasan O Akman, Monica Sciacco, Darryl C De Vivo, Salvatore DiMauro

Journal: J. Child Neurol.. 2014 Oct;29(10):NP105-10.

 

We report an unusual case of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of clinical phenotypes ranging from infant lethality to adult onset. Despite infantile onset and severe symptoms, our patient ...

Last Updated: 22 Sep 2014

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The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
 

Author(s): Victoria Nesbitt, Patrick J Morrison, Ellen Crushell, Deirdre E Donnelly, Charlotte L Alston, Langping He, Robert McFarland, Robert W Taylor

Journal: Dev Med Child Neurol. 2012 Jun;54(6):500-6.

 

Mitochondrial respiratory chain diseases represent one of the most common inherited neurometabolic disorders of childhood, affecting a minimum of 1 in 7500 live births. The marked clinical, biochemical, and genetic heterogeneity means that accurate genetic counselling relies heavily ...

Last Updated: 10 May 2012

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Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.
 

Author(s): Shi-Bing Wang, Wen-Chin Weng, Ni-Chung Lee, Wuh-Liang Hwu, Pi-Chuan Fan, Wang-Tso Lee

Journal: Pediatr Neonatol. 2008 Aug;49(4):145-9.

 

Mutation of mitochondrial DNA (mtDNA) G13513A, encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and Leigh syndrome. Wolff-Parkinson-White (WPW) syndrome and optic atrophy were reported ...

Last Updated: 5 Dec 2008

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Tissue Sample Study for Mitochondrial Disorders
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Disease; Melas; Kearns Sayer; NARP; MNGIE; LHON; Mitochondrial Depletion Syndrome; Leigh's Disease

 

Last Updated: 5 May 2015

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North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

 

Last Updated: 6 May 2015

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