Autonomic Dysfunction in Epilepsy and Mitochondrial Diseases

The autonomic nervous system is involved and influenced in patients with epilepsy and mitochondrial diseases in a variety of complex, often multifaceted, mechanisms. Autonomic dysfunction often remains unrecognized due to a lack of attention and awareness under the prominence of other disease symptoms. Recognition of the diverse autonomic manifestations of epilepsy and mitochondrial disease would enhance early diagnosis and appropriate management, ultimately improving quality the of life and reducing morbidity and mortality in the affected patients. In this chapter, we discuss autonomic nervous system dysfunction in children with epilepsy (Part I) and mitochondrial diseases (Part II).
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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Mitochondrial disorders may present from birth to adulthood and are characterized by dysfunction of the mitochondrial respiratory chain due to pathogenic variants in mitochondrial DNA (mtDNA) or nuclear DNA, with an estimated incidence of 1/5000 1. Mitochondrial disorders have a broad phenotypic spectrum and may fall into one of several classic phenotypic presentations (e.g., mitochondrial encephalopathy with lactic acidosis and stroke-like episodes: MELAS; Leber hereditary optic neuropathy: LHON; myoclonic epilepsy with ragged red fibers: MERRF, Kearns-Sayre syndrome: KSS, among others) or may present with variable sympto...
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Editorials Source Type: research
An Insight on Molecular Mechanisms &Novel Therapeutic Approaches in Epileptogenesis. CNS Neurol Disord Drug Targets. 2020 Sep 10;: Authors: Singh S, Singh TG, Rehni AK Abstract Epilepsy is a second most common neurological disease with abnormal neural activity involving activation of various intracellular signalling transduction mechanisms. The molecular and system biology mechanisms responsible for epileptogenesis are not well defined or understood. Neuroinflammation, neurodegeneration &Epigenetic modification elicit epileptogensis. The excessive neuronal activities in brain are associated wi...
Source: CNS and Neurological Disorders Drug Targets - Category: Drugs & Pharmacology Authors: Tags: CNS Neurol Disord Drug Targets Source Type: research
In this study, we investigated a panel of blood biomarkers in a cohort of 123 mitochondrial patients, with prominent neurological and muscular manifestations. These biomarkers included creatine, fibroblast growth factor 21 (FGF21) and growth/differentiation factor 15 (GDF-15), and the novel cell free circulating-mtDNA (ccf-mtDNA). All biomarkers were significantly increased in the patient group. After stratification by the specific phenotypes, ccf-mtDNA  was significantly increased in the Mitochondrial Encephalomyopathy Lactic Acidosis Stroke-like episodes syndrome (MELAS) group, and FGF21 and GDF-15 were significantl...
Source: Journal of Molecular Medicine - Category: Molecular Biology Source Type: research
ConclusionThe discovery of new phenotypes and new genotypes will further enrich the diagnosis information of the disease and provide more experiences for clinicians to quickly diagnose the disease and judge the prognosis.
Source: Brain and Behavior - Category: Neurology Authors: Tags: ORIGINAL RESEARCH Source Type: research
Abstract Neurological disorders (ND) are the central nervous system (CNS) related complications originated by enhanced oxidative stress, mitochondrial failure and overexpression of proteins like S100B. S100B is a helix-loop-helix protein with calcium-binding domain associated to various neurological disorders through activation of MAPK pathway, increased NFkB expression results in cell survival, proliferation and gene up-regulation. S100B protein plays a crucial role in Alzheimer's disease, Parkinson's disease, multiple sclerosis, Schizophrenia and epilepsy because high expression of this protein directly targets ...
Source: Current Neuropharmacology - Category: Drugs & Pharmacology Authors: Tags: Curr Neuropharmacol Source Type: research
In conclusion, sitting for prolonged periods of time without interruption is unfavorably associated with DBP and HDL cholesterol. Exercise Slows Inappropriate Growth of Blood Vessels in a Mouse Model of Macular Degeneration https://www.fightaging.org/archives/2020/07/exercise-slows-inappropriate-growth-of-blood-vessels-in-a-mouse-model-of-macular-degeneration/ Excessive growth of blood vessels beneath the retina is a proximate cause of blindness in conditions such as macular degeneration. Researchers here provide evidence for physical activity to be influential in the pace at which this process of tissue...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
There are innumerable studies showing small gains in mouse life span. Most cannot be reproduced, particularly the older ones, those that took place before it was common knowledge in the research community that one has to very aggressively control for accidental calorie restriction. If an intervention makes mice eat less, then they will tend to live longer, even if the intervention is modestly toxic. The improvements to health and longevity produced by calorie restriction in short-lived species are larger than near all other interventions assessed to date. Nonetheless, mechanisms that reliably (and usually modestly) ...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
AbstractThe mitochondrial tRNALys (mt-tRNALys) mutation is initially associated with myoclonic epilepsy and ragged-red fibers (MERRF). The clinical, laboratory, morphologic and molecular findings from 22 mt-tRNALys mutation carriers from local database in East China were analyzed retrospectively. We identified 13 symptomatic and 9 asymptomatic individuals with a known pathogenic mitochondrial tRNALys mutation. The most common mutations were m.8344 A>G (81.8%), m.8363G>A (9.1%), m.8356 T>C (4.5%) and m.8356 T>G (4.5%). The degree of mutation heteroplasmy in blood was high both in symptomatic (mean 64.5%, range 4...
Source: Journal of Neurology - Category: Neurology Source Type: research
We report a 40-year-old man with mild mental retardation and sporadic choreo-athetoid movements, who complained of recurrent episodes of rhabdomyolysis triggered by exercise or fasting since his twenties. His 15-year-old son had a psychomotor developmental delay with episodes of drowsiness mainly at fasting and exercise-induced choreo-athetoid movements but no history of pigmenturia. Clinical and laboratory findings in the son suggested a diagnosis of GLUT1-DS confirmed by SCL2A1 genetic analysis that revealed a heterozygous mutation c.997C>T (p.R333W) that was also found in the proband. However, the presence in the lat...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Conclusion: Seizures lead to immune alterations within the immediate postictal period similar but not identical to stroke. The type of seizures determines the extent of immune alterations.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
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