Results 1 to 10 of about 13,156 (150)

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

Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization [PDF]

Research Involvement and Engagement
Background Leigh syndrome is a rare, progressive neurometabolic disorder caused by pathogenic variants in over 110 mitochondrial or nuclear genes. Its clinical and genetic heterogeneity creates challenges for diagnosis, care, and research.
Sophia Zilber, Melinda Burnworth, Titilola Afolabi, Jonathan R. Brestoff, Michal Minczuk, Alejandro Rodriguez Luis, Qinglan Ling, Alessandro Prigione, Isabella Tolle, Ibrahim Elsharkawi, Ethan Perlstein, Danielle Boyce, Simon Johnson, Kasey Woleben   +13 more
doaj   +2 more sources

Accelerating Leigh syndrome drug discovery through deep learning screening in brain organoids [PDF]

Nature Communications
Leigh syndrome (Leigh) is an untreatable mitochondrial disorder characterized by lactic acidosis and basal ganglia and midbrain pathology, leading to psychomotor regression and early death. We previously uncovered impaired neuronal morphogenesis in Leigh
Carmen Menacho, Satoshi Okawa, Iris Álvarez-Merz, Annika Wittich, Mikel Muñoz-Oreja, Pawel Lisowski, Mario López Martín, Tancredi Massimo Pentimalli, Shiri Zakin, Mathuravani Thevandavakkam, Caleb Jerred, Selene Lickfett, Laura Petersilie, Agnieszka Rybak-Wolf, Annette Seibt, Diran Herebian, Gizem Inak, Susanne Brodesser, Andrea Zaliani, Barbara Mlody, Justin Donnelly, Kasey Woleben, Francesc Xavier Soriano, Jose C. Fernandez-Checa, Natascia Ventura, Sidney Cambridge, Ertan Mayatepek, Antonella Spinazzola, Markus Schuelke, Nikolaus Rajewsky, Andrea Rossi, Alex Peralvarez-Marin, Felix Distelmaier, Ethan Perlstein, Ian J. Holt, Emma Puighermanal, Ole Pless, Christine R. Rose, Antonio Del Sol, Alessandro Prigione   +39 more
doaj   +2 more sources

Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments [PDF]

Biomedicines
Leigh syndrome (LS) is a severe neurodegenerative condition with an early onset, typically during early childhood or infancy. The disorder exhibits substantial clinical and genetic diversity.
Giuseppe Magro, Vincenzo Laterza, Federico Tosto   +2 more
doaj   +2 more sources

From Congenital Torticollis to Leigh Syndrome: A Case Report of Diagnostic Evolution in an Infant [PDF]

Children
Leigh syndrome is a rare, progressive mitochondrial disorder of childhood. Early diagnosis is often challenging due to nonspecific clinical manifestations.
Minsoo Jeon, Shin-seung Yang, Sera Lee, Ja Young Choi   +3 more
doaj   +2 more sources

Improved AAV9-based gene therapy design for SURF1-related Leigh syndrome with minimal toxicity [PDF]

Molecular Therapy: Methods & Clinical Development
Surfeit locus protein 1 (SURF1)-related Leigh syndrome is an early-onset neurodegenerative disorder characterized by a reduction in complex IV activity that disrupts mitochondrial function.
Qinglan Ling, Matthew Rioux, Harrison Higgs, Yuhui Hu, Scarlett E. Dwyer, Steven J. Gray   +5 more
doaj   +2 more sources

Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands [PDF]

Molecular Genetics and Metabolism Reports
Background: Variants in NDUFAF6 have been reported to be associated with Leigh syndrome. However, further expansion of the NDUFAF6-phenotype and variants spectrum of NDUFAF6-related Leigh syndrome are still required.
Yuwei Zhou, Xiaofei Zeng, Luyi Zhang, Xiaojie Yin, Xue Ma, Keyi Li, Peijing Qiu, Xiaoting Lou, Liqin Jin, Ya Wang, Yanling Yang, Ting Shen   +11 more
doaj   +2 more sources

A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum [PDF]

Diagnostics
Background: Leigh syndrome spectrum (LSS) is a novel nomenclature that encompasses both classical Leigh syndrome and Leigh-like phenotypes. Given the heterogeneity of disease presentation, a new consensus published recently addressed the main issues and ...
Manuela Schubert Baldo, Luísa Azevedo, Margarida Paiva Coelho, Esmeralda Martins, Laura Vilarinho   +4 more
doaj   +2 more sources

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome [PDF]

Frontiers in Pediatrics
BackgroundThe MRPS36 gene encodes the E4 subunit of the 2-oxoglutarate dehydrogenase complex (OGDHC), a critical enzyme in the tricarboxylic acid cycle. OGDHC deficiency can lead to metabolic disorders with a clinical spectrum ranging from fatal neonatal
Huafang Jiang, Huafang Jiang, Chaolong Xu, Zhimei Liu, Ruoyu Duan, Xingfeng Yao, Xiaona Fu, Jiatong Xu, Xuejing Kang, Tenghui Yu, Yuanyuan Wang, Fang Fang   +11 more
doaj   +2 more sources

Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review [PDF]

BMC Neurology
Background Leigh syndrome (LS) is an inherited form of mitochondrial encephalopathy associated with various gene mutations of the oxidative phosphorylation system, typically occurring in infancy or early childhood and resulting in disability or even ...
Yashi Liao, Yaxin Lai, Xinxin Chen, Shanshan Zhao   +3 more
doaj   +2 more sources