Abstract：
:Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.
journal_name
Metab Brain Disjournal_title
Metabolic brain diseaseauthors
Schinwelski M,Kierdaszuk B,Dulski J,Tońska K,Kodroń A,Sitek EJ,Bartnik E,Kamińska A,Kwieciński H,Sławek Jdoi
10.1007/s11011-014-9645-xsubject
Has Abstractpub_date
2015-08-01 00:00:00pages
1083-5issue
4eissn
0885-7490issn
1573-7365journal_volume
30pub_type
杂志文章abstract：:This study was performed to analyze the mutational spectrum of the phenylalanine hydroxylase (PAH) gene in phenylketonuria (PKU) patients in Northwest China, to identify mutational hot spots, and to determine the correlation between variants and clinical phenotypes of PKU. A large cohort of 475 PKU families in Northwe...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-019-0387-7
更新日期：2019-06-01 00:00:00
abstract：:Despite the existence of many preclinical studies, scientific evidence is lacking on the clinical use of alpha-lipoic acid (ALA) for central nervous system disorders. Therefore, we aimed at revising the literature concerning the use of ALA for the treatment of psychiatric and neurological conditions and to point out w...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-018-0344-x
更新日期：2019-02-01 00:00:00
abstract：:There is abundant evidence showing that repeated use of MDMA (3, 4-Methylenedioxymethamphetamine, ecstasy) has been associated with depression, anxiety and deficits in learning and memory, suggesting detrimental effects on hippocampus. Adenosine is an endogenous purine nucleoside that has a neuromodulatory role in the...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-012-9334-6
更新日期：2012-12-01 00:00:00
abstract：:Several epidemiological studies have shown that Diabetes Mellitus (DM) or Insulin Resistance (IR) increases the risk of dementia. Besides, some authors suggested that poor glucose control to be associated with worse cognitive function. We aimed to assess cognitive functions and IR-degree over time in diabetic. We also...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-017-9977-4
更新日期：2017-06-01 00:00:00
abstract：:We aimed to evaluate the effect of in vitro galactosaemia on acetylcholinesterase (AChE) activity in different suckling rat brain regions. Various concentrations of galactose (Gal), galactose-1-phosphate (Gal-1-P) and/or galactitol (Galtol) were preincubated for 1 h with homogenates from frontal cortex, hippocampus an...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-005-7210-3
更新日期：2005-09-01 00:00:00
abstract：:To investigate the short-term brain activity changes in cirrhotic patients with Liver transplantation (LT) using resting-state functional MRI (fMRI) with regional homogeneity (ReHo) method. Twenty-six cirrhotic patients as transplant candidates and 26 healthy controls were included in this study. The assessment was re...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-015-9657-1
更新日期：2015-08-01 00:00:00
abstract：:A study evaluating zinc supplementation in patients with Alzheimer's disease yielded variable zinc plasma levels in spite of positive cognitive and physiological results. In an attempt to raise and sustain plasma zinc levels, a single patient was given 15 mg zinc/day with various combinations of vitamins. A sustained ...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-006-9023-4
更新日期：2006-09-01 00:00:00
abstract：:Calotropis procera (CP; Apocynaceae) is reported to have several neuroprotective activities however it's anti-depressant activity yet to be established. Therefore, the present study was proposed to evaluate the anti-depressant activity of the standardized ethanolic extract of CP (ECP) in chronic unpredictable mild str...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-019-00471-8
更新日期：2019-12-01 00:00:00
abstract：:α-asarone (ASR) is a major bioactive compound isolated from the rhizome of Acorus tatarinowii Schott and it has extensive biological effects. Clinically, anxiety disorder is a common comorbidity of chronic pain. However, limited information is available regarding the effects of ASR on chronic pain-related anxiety. Thi...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-017-0108-z
更新日期：2017-12-01 00:00:00
abstract：:Increasing evidence indicates that fetal metabolic stress may result in a variety of post-natal perturbations during brain development. The goal of the study was to determine the duration of hypoxia/ischemia that would elicit a demonstrable regional depression of metabolism in the fetal brain and further to examine se...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-006-9031-4
更新日期：2006-12-01 00:00:00
abstract：:Glutaric aciduria type 1 is a neurometabolic disorder, caused by riboflavin-dependent glutaryl-CoA dehydrogenase deficiency. As its consequence, accumulation of the putatively neurotoxic metabolites (glutaric and 3-hydroxyglutaric acids) in body tissues, but especially within the brain, is observed. Estimated incidenc...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-018-0357-5
更新日期：2019-04-01 00:00:00
abstract：:D-Galactose (D-gal) chronic administration via intraperitoneal and subcutaneous routes has been used as a model of aging and Alzheimer disease in rodents. Intraperitoneal and subcutaneous administration of D-gal causes memory impairments, a reduction in the neurogenesis of adult mice, an increase in the levels of the ...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-017-9972-9
更新日期：2017-06-01 00:00:00
abstract：:Rare metabolic diseases may sometimes arise acutely and endanger human life if not immediately recognized and treated. Marchiafava Bignami disease is an uncommon neurologic disorder described in alcohol abusers and characterized by an acute severe damage of brain white matter. Even more rarely, it has been reported in...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-016-9893-z
更新日期：2017-02-01 00:00:00
abstract：:Schizophrenia is known to be associated with metabolic disturbances including diabetes mellitus, obesity and cardiovascular diseases. A growing body of evidence has suggested abnormal cytokine levels in schizophrenia. In the present study, we explored the effects of low-grade chronic inflammation on behavioral stereot...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-014-9630-4
更新日期：2015-06-01 00:00:00
abstract：:Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism, resulting in pathological accumulation of copper in many organs and tissues. The hallmarks of the disease are the presence of liver disease, neurologic symptoms, and Kayser-Fleischer corneal rings. The leading neurologic symptoms in...
journal_title：Metabolic brain disease
pub_type： 杂志文章,评审
doi：10.1007/s11011-005-7910-8
更新日期：2005-12-01 00:00:00
abstract：:The permeability of the blood-brain barrier to glutamate was measured by quantitative autoradiography in brains of 7-day-old rats (average plasma glutamate 114 microM) and rats injected subcutaneously with glutamate (average plasma glutamate 2,670 microM). Measurements of glutamate permeability were initiated by the i...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：
更新日期：1997-09-01 00:00:00
abstract：:Stroke is the leading cause of disability among adults as well as the 2nd leading cause of death globally. Ischemic stroke accounts for about 85% of strokes, and currently, tissue plasminogen activator (tPA), whose therapeutic window is limited to up to 4.5 h for the appropriate population, is the only FDA approved dr...
journal_title：Metabolic brain disease
pub_type： 杂志文章,评审
doi：10.1007/s11011-020-00573-8
更新日期：2020-08-01 00:00:00
abstract：:Relation between soya bean (SB) consumption and aggressive behavior has not been elucidated yet. Thus, this study was conducted to investigate the effect of large amount of SB consumption on adult male rats' aggressive behavior through investigating changes in the expression of gonadotropin-inhibitory hormone/ RF amid...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-019-00431-2
更新日期：2019-08-01 00:00:00
abstract：:3-Nitropropionic acid (3-NPA) is a toxin sometimes produced on moldy crops (sugarcane, peanuts, etc.) in amounts sufficient to cause severe neurological disorders when consumed by humans. In vitro, 3-NPA irreversibly inactivates SDH, a Complex II respiratory enzyme required for mitochondrial energy production. A singl...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1023/a:1020753629477
更新日期：1999-06-01 00:00:00
abstract：:D-galactose (GAL) causes aging-related changes and oxidative stress in the organism. We investigated the effect of whole fresh blueberry (BB) (Vaccinium corymbosum L.) treatment on oxidative stress in age-related brain damage model. Rats received GAL (300 mg/kg; s.c.; 5 days per week) alone or together with 5 % (BB1) ...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-014-9643-z
更新日期：2015-06-01 00:00:00
abstract：:Glutaric aciduria type I (GA-I) is an inborn error of lysine and tryptophan metabolism. Clinical manifestations of GA-I include dystonic or dyskinetic cerebral palsy, but when the symptoms occur, treatment is not effective. In Taiwan, newborn screening for GA-I started in 2001; we wish to evaluate the outcomes of pati...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-012-9349-z
更新日期：2013-03-01 00:00:00
abstract：:Depression is a complex progressive disorder accompanied by activation of inflammatory and Th-1 driven pathways, oxidative and nitrosative stress (O&NS), lowered antioxidant levels, mitochondrial dysfunctions, neuroprogression and increased bacterial translocation. In depression, activation of immuno-inflammatory path...
journal_title：Metabolic brain disease
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s11011-012-9326-6
更新日期：2012-12-01 00:00:00
abstract：:Applying different technologies to monitor disease activity and treatment efficacy are essential in a complex disease such as multiple sclerosis. Combining current assays with flow cytometry could create a powerful tool for such analyses. The cell surface expression level of CD74, the MHC class II invariant chain, is ...
journal_title：Metabolic brain disease
pub_type： 杂志文章,评审
doi：10.1007/s11011-014-9634-0
更新日期：2015-08-01 00:00:00
abstract：:Adult-onset type II citrullinemia (CTLN2), characterized by a liver-specific deficiency of urea cycle enzyme, argininosuccinate synthetase, is caused by mutations in SLC25A13 that encodes a calcium binding mitochondrial solute carrier protein, citrin. Citrin deficiency causes not only CTLN2 but also neonatal intrahepa...
journal_title：Metabolic brain disease
pub_type： 杂志文章,评审
doi：10.1023/a:1021961919148
更新日期：2002-12-01 00:00:00
abstract：:Substantial evidence demonstrated that maternal dietary nutrients can significantly determine the susceptibility to developing metabolic disorders in the offspring. Therefore, we aimed to investigate the later-life effects of maternal and postweaning diets interaction on epigenetic modification of the central nervous ...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-015-9678-9
更新日期：2015-10-01 00:00:00
abstract：:Betanin, a natural food colorant with powerful antioxidative properties, has not been studied in terms of neurodegenerative disease intervention. Therefore, the present study aimed to investigate the neuroprotective effects of betanin against trimethyltin chloride (TMT) -induced neurodegeneration in mice. Forty male I...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-020-00615-1
更新日期：2020-12-01 00:00:00
abstract：:In the normal adult brain, glucose provides 90% of the energy requirements as well as substrate for nucleic acid and lipid synthesis. In the present study, effects of ethanol on glucose transporters (GLUT) and glucose utilization were examined in rat brain. Male Sprague-Dawley rats weighing 250-300 gms were given eith...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/BF02674530
更新日期：2000-09-01 00:00:00
abstract：:Effects of sertraline, haloperidol or olanzapine administration on ketamine-induced behaviours in mice were examined. The aim was to ascertain the degree of reversal of such behaviours by sertraline, and compare its effectiveness to haloperidol and olanzapine. Ten-week old mice (N = 120) were equally divided into main...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-017-0031-3
更新日期：2017-10-01 00:00:00
abstract：:Thyroid hormone insufficiency during neurodevelopment can result into significant structural and functional changes within the developing central nervous system (CNS), and is associated with the establishment of serious cognitive impairment and neuropsychiatric symptomatology. The aim of the present study was to shed ...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-014-9581-9
更新日期：2015-02-01 00:00:00
abstract：:Schizophrenia is one of the most disabling mental disorders that affects up to 1 % of the population worldwide. Although the causes of this disorder remain unknown, it has been extensively characterized by a broad range of emotional, ideational and cognitive impairments. Studies indicate that schizophrenia affects neu...
journal_title：Metabolic brain disease
pub_type： 杂志文章
doi：10.1007/s11011-013-9417-z
更新日期：2013-09-01 00:00:00
