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Page 1
Leigh syndrome.
Rahman S. Rahman S. Handb Clin Neurol. 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. Handb Clin Neurol. 2023. PMID: 36813320 Review.
Leigh syndrome, or subacute necrotizing encephalomyelopathy, was initially recognized as a neuropathological entity in 1951. Bilateral symmetrical lesions, typically extending from the basal ganglia and thalamus through brainstem structures to the posterior columns of the …
Leigh syndrome, or subacute necrotizing encephalomyelopathy, was initially recognized as a neuropathological entity in 1951. Bilatera …
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ, Compton AG, Rahman S, Thorburn DR. Lake NJ, et al. Ann Neurol. 2016 Feb;79(2):190-203. doi: 10.1002/ana.24551. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506407 Free article. Review.
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations in >75 genes have been identified, encoded by 2 genomes (mitochondrial and nuclear). …
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetica …
A guide to diagnosis and treatment of Leigh syndrome.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. Baertling F, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14. J Neurol Neurosurg Psychiatry. 2014. PMID: 23772060 Review.
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. ...Here, we review the most important clinical aspects of Leigh syndrome, and discuss diagnostic steps as well as treatment options....
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. ...Here, we re …
Exclusion of sulfide:quinone oxidoreductase from mitochondria causes Leigh-like disease in mice by impairing sulfide metabolism.
Kanemaru E, Shimoda K, Marutani E, Morita M, Miranda M, Miyazaki Y, Sinow C, Sharma R, Dong F, Bloch DB, Akaike T, Ichinose F. Kanemaru E, et al. J Clin Invest. 2024 Jun 13;134(15):e170994. doi: 10.1172/JCI170994. J Clin Invest. 2024. PMID: 38870029 Free PMC article.
Leigh syndrome is the most common inherited mitochondrial disease in children and is often fatal within the first few years of life. In 2020, mutations in the gene encoding sulfide:quinone oxidoreductase (SQOR), a mitochondrial protein, were identified as a cause of …
Leigh syndrome is the most common inherited mitochondrial disease in children and is often fatal within the first few years of …
Leigh's disease.
McGill J, Maddison T, Collins K, Powell H, Haan E. McGill J, et al. Med J Aust. 1986 Jan 20;144(2):111. doi: 10.5694/j.1326-5377.1986.tb113683.x. Med J Aust. 1986. PMID: 3941641 No abstract available.
Neuroimaging in mitochondrial disease.
Distelmaier F, Klopstock T. Distelmaier F, et al. Handb Clin Neurol. 2023;194:173-185. doi: 10.1016/B978-0-12-821751-1.00016-6. Handb Clin Neurol. 2023. PMID: 36813312 Review.
The nervous system of affected individuals typically shows selective regional vulnerability leading to distinct patterns of tissue damage. A classic example is Leigh syndrome, which causes symmetric alterations of basal ganglia and brain stem. Leigh syndrome can be …
The nervous system of affected individuals typically shows selective regional vulnerability leading to distinct patterns of tissue damage. A …
MEGDEL Syndrome.
Finsterer J, Scorza FA, Fiorini AC, Scorza CA. Finsterer J, et al. Pediatr Neurol. 2020 Sep;110:25-29. doi: 10.1016/j.pediatrneurol.2020.03.009. Epub 2020 Jul 16. Pediatr Neurol. 2020. PMID: 32684373 Review.
MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomotor delay, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain magnetic resonance imaging. MEGDEL syndrome is due to mutations in the …
MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomotor delay, muscle hypot …
Mitochondrial abnormalities in choroid plexus of Leigh disease.
Ohama E, Ikuta F, Nakamura N. Ohama E, et al. Brain Dev. 1988;10(1):30-5. doi: 10.1016/s0387-7604(88)80042-1. Brain Dev. 1988. PMID: 3285724 Review.
Morphological study of the choroid plexuses in three patients with Leigh disease revealed a marked increase in the number of mitochondria in almost all of the choroidal epithelial cells. This finding is considered the morphological expression of a biochemical defect …
Morphological study of the choroid plexuses in three patients with Leigh disease revealed a marked increase in the number of m …
Hypocapnic hypothesis of Leigh disease.
Pronicka E. Pronicka E. Med Hypotheses. 2017 Apr;101:23-27. doi: 10.1016/j.mehy.2017.01.016. Epub 2017 Feb 1. Med Hypotheses. 2017. PMID: 28351484 Free article.
Leigh syndrome (LS) is a neurogenetic disorder of children caused by mutations in at least 75 genes which impair mitochondrial bioenergetics. ...
Leigh syndrome (LS) is a neurogenetic disorder of children caused by mutations in at least 75 genes which impair mitochondrial bioene …
3,775 results