Results 11 to 20 of about 6,089,967 (287)
Journal of Neuropathology & Experimental Neurology, 2015 Leigh syndrome (LS) is the most common pediatric presentation of a defined mitochondrial disease. This progressive encephalopathy is characterized pathologically by the development of bilateral symmetrical lesions in the brainstem and basal ganglia that show gliosis, vacuolation, capillary proliferation, relative neuronal preservation, and by ...
Nicole J, Lake +3 more
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From Congenital Torticollis to Leigh Syndrome: A Case Report of Diagnostic Evolution in an Infant [PDF]
ChildrenLeigh syndrome is a rare, progressive mitochondrial disorder of childhood. Early diagnosis is often challenging due to nonspecific clinical manifestations.
Minsoo Jeon +3 more
doaj +2 more sources
Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization [PDF]
Research Involvement and EngagementBackground 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 +13 more
doaj +2 more sources
Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2. [PDF]
J Clin InvestMitochondria-related neurodegenerative diseases have been implicated in the disruption of primary cilia function. Mutation in an intrinsic mitochondrial complex I component NDUFAF2 has been identified in Leigh syndrome, a severe inherited ...
Lo CH +12 more
europepmc +2 more sources
Annals of Indian Academy of Neurology, 2007 Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults.
Pandit Lekha +3 more
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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 +2 more sources
Improved AAV9-based gene therapy design for SURF1-related Leigh syndrome with minimal toxicity [PDF]
Molecular Therapy: Methods & Clinical DevelopmentSurfeit 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 +5 more
doaj +2 more sources
Leigh Syndrome: A Tale of Two Genomes
Frontiers in Physiology, 2021 Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity.
Ajibola B. Bakare, E. Lesnefsky, S. Iyer
semanticscholar +3 more sources
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome. [PDF]
Genes (Basel)Oxidative phosphorylation involves a complex multi-enzymatic mitochondrial machinery critical for proper functioning of the cell, and defects herein cause a wide range of diseases called “primary mitochondrial disorders” (PMDs).
Misceo D +7 more
europepmc +2 more sources
A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum [PDF]
DiagnosticsBackground: 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 +4 more
doaj +2 more sources