Results 81 to 90 of about 15,339 (211)

Leigh syndrome: MRI findings in two children

, 2010
Leigh syndrome is a progressive neurodegenerative disorder of childhood. The symmetrical necrotic lesions in the basal ganglia and/or brainstem which appear as hyperintense lesions on T2-weighted MRI is characteristic and one of the essential diagnostic ...
ZAINAB BINTI AWANG NGAH
core  

Schizophrenia and Leigh syndrome, a simple comorbidity or the same etiopathogeny: about a case

The Pan African Medical Journal, 2015
Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency". Few psychiatric disorders have been defined that are associated with Leigh syndrome.
Leila Mnif1, Rim Sellami, Jawaher Masmoudi   +1 more
doaj   +1 more source

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, Volume 600, Issue 12, Page 1699-1716, June 2026.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Clinical Spectrum, Heteroplasmy‐Phenotype Correlation, and Prognosis of the MT‐ND3 m.10191 T > C Mutation

CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This study presents the largest cohort of patients with the m.10191 T > C mutation to date, delineating a continuous spectrum from LS to MELAS‐like phenotypes and systematically characterizing clinical manifestations, neuroimaging features, heteroplasmy–phenotype correlations, and prognostic factors.
Zimeng He, Huafang Jiang, Tongyue Li, Yang Liu, Ying Zou, Chaolong Xu, Zhimei Liu, Danmin Shen, Ruoyu Duan, Minhan Song, Yunxi Zhang, Zixuan Zhang, Mingxi Sun, Rui Shen, Hong Xue, Fang Fang   +15 more
wiley   +1 more source

Tipping point and molecular mechanism of the transformation of lung adenocarcinoma in situ to invasive adenocarcinoma: A study based on dynamic network markers in systems biology

Clinical and Translational Discovery, Volume 6, Issue 3, June 2026.
A dynamic network biomarker (DNBs) linking the transformation from lung AIS to IAC. Key differential genes and pathways were identified, establishing MIA as the critical tipping point for transformation. Abstract Background Lung adenocarcinoma in situ (AIS), characterised by ground‐glass nodules as observed in computed tomography imaging, generally ...
Lin Shi, Longfu Zhang, Jiebai Zhou, Dawei Yang, Mingxiang Feng, Yong Zhang   +5 more
wiley   +1 more source

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

Genetics and Molecular Biology
Leigh syndrome is an early onset progressive disorder caused by defects in mitochondrial oxidative phosphorylation. Pathogenic variants in nuclear and mitochondrial genes are associated with the syndrome.
Eduardo Perrone, Thiago R. Cavole, Manuella G. Oliveira, Luiza do A. Virmond, Marina de França B. Silva, Maria de Fatima F. Soares, Simone Brasil de O. Iglesias, Ariane Falconi, Juliana S. Silva, Viviane Nakano, Maria Fernanda Milanezi, Carmen Silvia C. Mendes, Marco Antonio Curiati, Cecília Micheletti   +13 more
doaj   +1 more source

Metabolic Reprogramming and Exosome Remodeling in an Ndufs4‐Deficient Model of Leigh Syndrome

iNew Medicine, Volume 2, Issue 2, June 2026.
Ndufs4 knockout drives exosomal remodeling, reprograms cellular metabolism, impairs neural stem cell self‐renewal and differentiation, and suppresses mTOR signaling, providing a conceptual framework for understanding Leigh syndrome pathogenesis and informing therapeutic development.
Yakun Liu, Zhi Yang, Zhencai Xing, Rongrong Zhao, Yixuan Zhou, Xue Yang, Jicheng Zhu, Shuo Chen, Yuhang Zhang, Mengxue Xu, Xiang Kong, Minqiong Sun, Zhenya Tan, Hong Zheng   +13 more
wiley   +1 more source

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

, 1988
We describe a patient with severe muscle cytochrome c oxidase deficiency who had de Toni-Fanconi-Debré syndrome and acute neurologic deterioration resembling Leigh syndrome, without clear evidence of muscle abnormality.
H.R. Scholte, Ogier, H., A. Lombes, B. Vignes, P. Niaudet, Scholte, H. R., Fardeau, M., Vignes, B., Niaudet, P., Saudubray, J. M., M. Fardeau, Lombes, A., Alcardi, J., H. Ogier, Poll-The, B. T., B.T. Poll-The, J.M. Saudubray, J. Alcardi   +17 more
core   +1 more source