Results 11 to 20 of about 50,342 (212)

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Frontiers in Neurology, 2019
Background: Leigh syndrome is a mitochondrial cytopathy that presents as a neurodegenerative disease with apparent manifestation in the central nervous system.
Sunho Lee, Ji-Hoon Na, Young-Mock Lee, Young-Mock Lee   +3 more
doaj   +3 more sources

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

PLoS Genetics, 2015
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 ...
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   +37 more
doaj   +2 more sources

Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome

Orphanet Journal of Rare Diseases, 2023
Background Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitochondrial disease. No treatments are currently available for Leigh syndrome due to many hurdles in drug discovery efforts ...
Jesse D. Moreira, Karan K. Smith, Sophia Zilber, Kasey Woleben, Jessica L. Fetterman   +4 more
doaj   +1 more source

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation

Frontiers in Neurology, 2021
Background and Purpose: Recent advances in molecular genetic testing have led to a rapid increase in the understanding of the genetics of Leigh syndrome.
Ji-Hoon Na, Min Jung Lee, Chul Ho Lee, Young-Mock Lee, Young-Mock Lee   +4 more
doaj   +1 more source

Activated microglia and neuroinflammation as a pathogenic mechanism in Leigh syndrome

Frontiers in Neuroscience, 2023
Neuroinflammation is one of the main mechanisms leading to neuronal death and dysfunction in neurodegenerative diseases. The role of microglia as primary mediators of inflammation is unclear in Leigh syndrome (LS) patients.
Nastaran Daneshgar, Mariah R. Leidinger, Stephanie Le, Marco Hefti, Alessandro Prigione, Dao-Fu Dai   +5 more
doaj   +1 more source

Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene

Stem Cell Research, 2020
Leigh syndrome is a rare multi-organ system disorder that affects less than 1 in 5000 births. In cases where clinical heterogeneity makes some presentations difficult to categorize as Leigh syndrome, but are highly suggestive, those are referred to as ...
Glen Lester Sequiera, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +2 more
doaj   +1 more source

Novel NARS2 variant causing leigh syndrome with normal lactate levels

Human Genome Variation, 2022
Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation.
Ryosuke Tanaka, Ryo Takeguchi, Mami Kuroda, Nao Suzuki, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi   +7 more
doaj   +1 more source

Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome

Frontiers in Cell and Developmental Biology, 2021
In this study, we aimed to establish the mitochondrial etiology of the proband’s progressive neurodegenerative disease suggestive of an atypical Leigh syndrome, by determining the proband’s pathogenic variants.
Martine Uittenbogaard, Kuntal Sen, Matthew Whitehead, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Andrea Gropman, Anne Chiaramello   +7 more
doaj   +1 more source

Leigh Syndrome Mimicking Wernicke’s Encephalopathy: A Case Report

대한영상의학회지, 2020
Leigh syndrome or subacute necrotizing encephalomyelopathy is a rare, rapidly progressive neurodegenerative disorder. In general, symptoms such as shortness of breath and decreased cardiac function usually occur within 1 year of life.
Jisoo Oh, Jinok Choi, Soojung Kim, Eun-ae Yoo   +3 more
doaj   +1 more source

NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature

Frontiers in Pediatrics, 2022
Leigh syndrome is a neurodegenerative disorder that presents with fluctuation and stepwise deterioration, such as neurodevelopmental delay and regression, dysarthria, dysphagia, hypotonia, dystonia, tremor, spasticity, epilepsy, and respiratory problems.
Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang
doaj   +1 more source