Results 11 to 20 of about 15,339 (211)
Ocular manifestations in Leigh syndrome [PDF]
Korean Journal of Pediatrics, 2010 Purpose : Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. Methods :
Kyo Ryung Kim +5 more
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Leigh syndrome with atypical cerebellar lesions [PDF]
eNeurologicalSci, 2019 Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis.
Marcos Gil Alberto da Veiga +4 more
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Pediatrics and Neonatology, 2008 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.
Shi-Bing Wang +5 more
doaj +3 more sources
Leigh syndrome: A rare mitochondrial disorder
Bangabandhu Sheikh Mujib Medical University Journal, 2016 Leigh syndrome is a rare, mitochondrial disorder of childhood . In most cases dysfunction of the respiratory chain enzymes is responsible for the disease. Raised lactate levels in blood and/or cerebrospinal fluid is noted.
Gopen Kumar Kundu +3 more
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A Novel Mitochondrial DNA 8597T>C Mutation of Leigh Syndrome: Report of One Case
Pediatrics and Neonatology, 2012 Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system.
Jeng-Dau Tsai +3 more
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Leigh syndrome in an infant: autopsy and histopathology findings
Autopsy and Case Reports, 2021 Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia ...
Arushi Gahlot Saini +4 more
doaj +3 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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Anesthetic Management of Leigh Syndrome
Bezmiâlem Science, 2017 Leigh syndrome is an extremely rare disorder in infants and children. It is characterized by a progressive neurodegenerative course with subacute necrotizing encephalomyelopathy, and it presents with developmental delay, seizures, dysarthria, ataxia, and
Ayşe Çiğdem TÜTÜNCÜ +2 more
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Molecular basis of Leigh syndrome: a current look [PDF]
Orphanet Journal of Rare Diseases, 2020 Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood.
Manuela Schubert Baldo, Laura Vilarinho
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Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
Endocrine Regulations, 2018 Objectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings ...
Danis Daniel +7 more
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