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Leigh Syndrome (Encephalopathy)
Published in Charles Theisler, Adjuvant Medical Care, 2023
Thiamine: The most common treatment for Leigh syndrome is the administration of thiamine (vitamin B1) 100 mg tid or thiamine derivatives. Some people with this disorder may experience a temporary symptomatic improvement or a modest slowing of the progression of the disease.2,3
Paper 4
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Leigh syndrome is a mitochondrial disorder. The changes seen on imaging tend to be symmetrical with T2 hyperintensity in the brainstem, medulla, midbrain and putamen. In contrast to the conditions already discussed above, cerebral white matter involvement is not commonly a feature.
Deficiency of the pyruvate dehydrogenase complex
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
There is a somewhat more indolent presentation in patients with chronic, more modest lactic acidemia who first come to attention because of delayed psychomotor development [29–36]. Some may present with failure to thrive or poor linear growth. Many of these patients have the clinical and neuropathologic features of Leigh syndrome [37]. As many as 25 percent of patients with Leigh syndrome have been reported to have defects in PDHC [24, 36]. Many of these patients die between ten months and three years of age. They may experience rapid deterioration or episodic deterioration following infections. Patients may have dystonia and, ultimately, they develop spastic quadriparesis. A variety of seizures includes grand mal, myoclonic, absence, or akinetic convulsions. With progression, brainstem abnormalities become prominent. There may be ocular movement abnormalities and central respiratory failure. Death may be from apnea or pneumonia. Another group of patients are characterized by ataxia and lactic acidosis [27].
Pathogenesis and Management of Acute Necrotizing Encephalopathy
Published in Expert Review of Neurotherapeutics, 2023
Ningxiang Qin, Jing Wang, Xi Peng, Liang Wang
The differential diagnosis between ANE and viral encephalitis is based on CSF analysis, as encephalitis patients frequently exhibit an evident increase in cerebrospinal fluid cells [72]. Acute disseminated encephalomyelitis (ADEM) typically manifests as elliptical to circular patchy lesions mainly involving the white matter, with asymmetric cortical and subcortical lesions observable on brain MRI [73]. In cases of cerebral venous thrombosis, after employing contrast-enhanced MRI and MRV, the patency of intracranial veins and the straight sinus can be verified to rule out this condition, which can also result in increased intracranial pressure and cerebral edema [71]. Wernicke’s encephalopathy is clearly linked to thiamine deficiency [74]. Leigh syndrome is a slowly progressive neurodegenerative disorder that may be hereditary and frequently presents with familial occurrence [70]. Toxic encephalopathy and inherited metabolic diseases are more commonly involved in the caudate and putamen [72].
Recent advances in delivering RNA-based therapeutics to mitochondria
Published in Expert Opinion on Biological Therapy, 2022
Yuma Yamada, Sen Ishizuka, Manae Arai, Minako Maruyama, Hideyoshi Harashima
Four methods for selective cleavage and the degradation of mutated mtDNA using mtRE, mtZFN, mito TALEN, and CRISPR/Cas9 are summarized below. mtRE contains a restriction endonuclease (RE) and a mitochondrial targeting signal. The mtRE can distinguish between wild-type and mutant mtDNAs by recognizing specific, and selectively cleave the mutated mtDNA, thereby decreasing the rate of mtDNA mutation. The T8993G mutation in mtDNA affects subunit 6 of mitochondrial ATPase (ATPase 6). This mutation is linked to two diseases, Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) and maternally inherited Leigh syndrome (MILS). The T8993G mutation generates recognition sites for Sma I and Xma I REs, which are not present in wild-type mtDNA. Therefore, it can be used for diagnostic and therapeutic purposes. Alexeyev et al reported that a decrease in the mtDNA mutation rate of T8993G mutant cells was observed, when Xma I was expressed in mitochondria of the cells via an allotopic expression system using adenoviral vectors. In the Xma I-transfected cells, the rate of ATP synthesis was increased in the treated cells, while lactate production was decreased [57].
Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations
Published in Ophthalmic Genetics, 2021
Razek Georges Coussa, Elliott H. Sohn, Ian C. Han, Sumit Parikh, Elias I. Traboulsi
To standardize the data collection process, we used the following definitions for categorizing the m.3243A>G variant-associated clinical phenotypes: 1) MIDD was defined as the combination of diabetes and hearing loss without other notable neurologic or systemic symptoms due to mitochondrial disease; 2) MELAS was defined as the combination of stroke-like episode confirmed on imaging and/or encephalopathy characterized by seizures, dementia, (or both) with lactic acidosis along with any other features of mitochondrial disease; 3) MERRF was defined as the combination of myoclonic epilepsy, and ataxia along with any other features of mitochondrial disease; 4) Leigh syndrome was defined as the combination of motor and intellectual developmental delay, usually with neurodevelopmental regression, and signs and symptoms of brain stem and/or basal ganglia disease (e.g., respiratory abnormalities, nystagmus, ophthalmoparesis, optic atrophy, ataxia, and dystonia) with confirmatory findings of symmetric lesions on neuroimaging; and 5) carrier status was defined as being molecularly confirmed for the m.3243A>G variant without satisfying any of the above syndromic definitions.