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Neurometabolic diseases

Zahraa Haidar, Nadine Jalkh, Sandra Corbani, Ali Fawaz, Eliane Chouery, André Mégarbané
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life. Both types are unresponsive to conventional anticonvulsant therapy, but can be controlled with pyridoxine monotherapy. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase have been reported to cause this disease in most patients...
March 10, 2018: Seizure: the Journal of the British Epilepsy Association
Simona Bertoli, Alberto Battezzati, Alessandra Petruzzi, Alessandro Leone, Ramona De Amicis, Elena Tramacere, Maddalena Meda, Andrea Foppiani, Antonio Silvani, Elena Lamperti
Nutritional status in adults with high-grade gliomas (HGGs) has been poorly investigated. We studied anthropometrics and fat mass (FM), fat free mass (FFM), and body water in HGGs patients also in relation to disease-related variables. Fifty-one patients (17 III and 34 IV-grade) and fifty-one control group (CG) matched for sex, age, and BMI were enrolled. Neurological scales, anthropometry, bioimpedance, and blood sampling were performed and analyzed according to grade, lesion location, extent of resection, phase of treatment, current steroids and antiepileptic therapy, and age of patient...
March 14, 2018: Nutrition and Cancer
L M Crowther, M Poms, Barbara Plecko
Conventional workup of rare neurological disease is frequently hampered by diagnostic delay or lack of diagnosis. While biomarkers have been established for many neurometabolic disorders, improved methods are required for diagnosis of previously unidentified or underreported causes of rare neurological disease. This would result in a higher diagnostic yield and increased patient numbers required for interventional studies. Recent studies using next-generation sequencing and metabolomics have led to identification of novel disease-causing genes and biomarkers...
March 13, 2018: Journal of Inherited Metabolic Disease
R J T Mocking, J Assies, H G Ruhé, A H Schene
Continuous research into the pathophysiology of psychiatric disorders, such as major depressive disorder (MDD), posttraumatic stress disorder (PTSD), and schizophrenia, suggests an important role for metabolism. This narrative review will provide an up-to-date summary of how metabolism is thought to be involved in the pathophysiology of these psychiatric disorders. We will focus on (I) the important role of fatty acids in these metabolic alterations, (II) whether fatty acid alterations represent epiphenomena or risk factors, and (III) similarities and dissociations in fatty acid alterations between different psychiatric disorders...
March 9, 2018: Journal of Inherited Metabolic Disease
Annu Aggarwal, Mohit Bhatt
Background: Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagnosis, and delayed or inadequate treatment. In this paper we survey WD-related literature in order to review recent advances in WD treatment...
2018: Tremor and Other Hyperkinetic Movements
Oleg B Shevelev, Alisa A Seryapina, Evgenii L Zavjalov, Lyudmila A Gerlinskaya, Tatiana N Goryachkovskaya, Nikolay M Slynko, Leonid V Kuibida, Sergey E Peltek, Arcady L Markel, Mikhail P Moshkin
BACKGROUND: As the standard clinically used hypotensive medicines have many undesirable side effects, there is a need for new therapeutic agents, especially ones of a natural origin. PURPOSE: One possible candidate is extract from the mushroom Reishi (Ganoderma lucidum), which is used in the treatment and prevention of many chronic diseases. STUDY DESIGN AND METHODS: To study the effectiveness of Reishi, which grows in the Altai Mountains, as an antihypertensive agent, we intragastrically administered Reishi water extract to adult male hypertensive ISIAH (inherited stress-induced arterial hypertension) rats...
March 1, 2018: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
M Szelechowski, N Amoedo, E Obre, C Léger, L Allard, M Bonneu, S Claverol, D Lacombe, S Oliet, S Chevallier, G Le Masson, R Rossignol
Mitochondrial dysfunction in the spinal cord is a hallmark of amyotrophic lateral sclerosis (ALS), but the neurometabolic alterations during early stages of the disease remain unknown. Here, we investigated the bioenergetic and proteomic changes in ALS mouse motor neurons and patients' skin fibroblasts. We first observed that SODG93A mice presymptomatic motor neurons display alterations in the coupling efficiency of oxidative phosphorylation, along with fragmentation of the mitochondrial network. The proteome of presymptomatic ALS mice motor neurons also revealed a peculiar metabolic signature with upregulation of most energy-transducing enzymes, including the fatty acid oxidation (FAO) and the ketogenic components HADHA and ACAT2, respectively...
March 2, 2018: Scientific Reports
Agatha Schlüter, Juan Sandoval, Stéphane Fourcade, Angel Díaz-Lagares, Montserrat Ruiz, Patrizia Casaccia, Manel Esteller, Aurora Pujol
Epigenomic changes may either cause disease or modulate its expressivity, adding a layer of complexity to mendelian diseases. X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic condition exhibiting discordant phenotypes, ranging from a childhood cerebral inflammatory demyelination (cALD) to an adult-onset mild axonopathy in spinal cords (AMN). The AMN form may occur with superimposed inflammatory brain demyelination (cAMN). All patients harbor loss of function mutations in the ABCD1 peroxisomal transporter of very-long chain fatty acids...
February 24, 2018: Brain Pathology
Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L Baple, Andrew H Crosby, Barry A Chioza
BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits. CASE PRESENTATION: We describe an index case of the family presented with generalised tonic-clonic seizure, developmental delay, intellectual disability, and ataxia...
February 20, 2018: BMC Medical Genetics
Rafael Teixeira Ribeiro, Ângela Zanatta, Alexandre Umpierrez Amaral, Guilhian Leipnitz, Francine Hehn de Oliveira, Bianca Seminotti, Moacir Wajner
Tissue accumulation of L-2-hydroxyglutaric acid (L-2-HG) is the biochemical hallmark of L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic inherited disease characterized by neurological symptoms and brain white matter abnormalities whose pathogenesis is not yet well established. L-2-HG was intracerebrally administered to rat pups at postnatal day 1 (P1) to induce a rise of L-2-HG levels in the central nervous system (CNS). Thereafter, we investigated whether L-2-HG in vivo administration could disturb redox homeostasis and induce brain histopathological alterations in the cerebral cortex and striatum of neonatal rats...
February 6, 2018: Neurotoxicity Research
Jonathan M Oliver, Anthony J Anzalone, Stephanie M Turner
Even in the presence of underreporting, sports-related concussions/mild traumatic brain injuries (mTBI) are on the rise. In the absence of proper diagnosis, an athlete may return to play prior to full recovery, increasing the risk of second-impact syndrome or protracted symptoms. Recent evidence has demonstrated that sub-concussive impacts, those sustained routinely in practice and competition, result in a quantifiable pathophysiological response and the accumulation of both concussive and sub-concussive impacts sustained over a lifetime of sports participation may lead to long-term neurological impairments and an increased risk of developing neurodegenerative diseases...
January 24, 2018: Sports Medicine
Vivek Tiwari, Kamal Saba, Pandichelvam Veeraiah, Jedy Jose, Subhash C Lakhotia, Anant B Patel
Alzheimer's disease (AD) is the most common neurodegenerative disorder characterized by progressive loss of memory and cognitive function. The cerebral metabolic rate of glucose oxidation has been shown to be reduced in AD. The present study evaluated efficacy of dietary Amalaki Rasayana (AR), an Ayurvedic formulation used in Indian traditional system, in AbPP-PS1 mouse model of AD in ameliorating memory and neurometabolism, and compared with donepezil, a standard FDA approved drug for AD. The memory of mice was measured using Morris Water Maze analysis...
September 2017: Journal of Biosciences
Simon J Schreiner, Thomas Kirchner, Atul Narkhede, Michael Wyss, Jiri M G Van Bergen, Stephanie C Steininger, Anton Gietl, Sandra E Leh, Valerie Treyer, Alfred Buck, Klaas P Pruessmann, Roger M Nitsch, Christoph Hock, Anke Henning, Adam M Brickman, Paul G Unschuld
Alzheimer's disease (AD) is the most common cause of cognitive dysfunction in older adults. The pathological hallmarks of AD such as beta amyloid (Aβ) aggregation and neurometabolic change, as indicated by altered myo-inositol (mI) and N-acetylaspartate (NAA) levels, typically precede the onset of cognitive dysfunction by years. Furthermore, cerebrovascular disease occurs early in AD, but the interplay between vascular and neurometabolic brain change is largely unknown. Thirty cognitively normal older adults (age = 70 ± 5...
December 12, 2017: Neurobiology of Aging
Graeme A M Nimmo, Resham Ejaz, Dawn Cordeiro, Peter Kannu, Saadet Mercimek-Andrews
Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms. We report two new patients whose clinical and biochemical features were mimicking mitochondrial myopathy. Patient 1 is an 8-year-old male with global developmental delay, axial and appendicular hypotonia, ataxia, and sensorineural hearing loss...
February 2018: American Journal of Medical Genetics. Part A
Ai Peng Tan, Kshitij Mankad
L2-hydroxyglutaric aciduria (L2-HGA) is a rare neurometabolic disease characterized by accumulation of L2-hydroxyglutarate (L2-HG), a potential oncometabolite resulting in significant lifetime risk for cerebral tumors. Herein, we present a case of intraventricular glioblastoma multiforme (GBM) in a 16-year-old child with L2-HGA who presented with rapid functional decline and persistent vomiting. The tumor was completely resected, and the patient remained well at 2-year follow-up. Clinicians should be aware of the usual insidious nature of the disease...
February 2018: World Neurosurgery
Patrick M Schaefer, Diana Hilpert, Moritz Niederschweiberer, Larissa Neuhauser, Sviatlana Kalinina, Enrico Calzia, Angelika Rueck, Bjoern von Einem, Christine A F von Arnim
Alterations of cellular bioenergetics are a common feature in most neurodegenerative disorders. However, there is a selective vulnerability of different brain regions, cell types, and even mitochondrial populations to these metabolic disturbances. Thus, the aim of our study was to establish and validate an in vivo metabolic imaging technique to screen for mitochondrial function on the subcellular level. Based on nicotinamide adenine dinucleotide (phosphate) fluorescence lifetime imaging microscopy [NAD(P)H FLIM], we performed a quantitative correlation to high-resolution respirometry...
October 2017: Neurophotonics
P Victor Sgobbi de Souza, T Bortholin, F George Monteiro Naylor, M Antônio Troccoli Chieia, W Bocca Vieira de Rezende Pinto, A Souza Bulle Oliveira
Inherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system dysfunction. Many neurological presentations may arise from the same metabolic defect, especially in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly represented by amyotrophic lateral sclerosis, may also result from various inborn errors of metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases...
November 8, 2017: Revue Neurologique
Georg von Jonquieres, Ziggy H T Spencer, Benjamin D Rowlands, Claudia B Klugmann, Andre Bongers, Anne E Harasta, Kristina E Parley, Jennie Cederholm, Orla Teahan, Russell Pickford, Fabien Delerue, Lars M Ittner, Dominik Fröhlich, Catriona A McLean, Anthony S Don, Miriam Schneider, Gary D Housley, Caroline D Rae, Matthias Klugmann
N-Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA accumulation appears to be the key factor for neurological decline in Canavan disease-a fatal neurometabolic disorder caused by deficiency in the NAA-degrading enzyme aspartoacylase. To date clinical outcome of gene replacement therapy for this spongiform leukodystrophy has not met expectations. To identify the target tissue and cells for maximum anticipated treatment benefit, we employed comprehensive phenotyping of novel mouse models to assess cell type-specific consequences of NAA depletion or elevation...
January 2018: Acta Neuropathologica
Raphael Schiffmann, Mary E Wallace, Daisy Rinaldi, Isabelle Ledoux, Marie-Pierre Luton, Scott Coleman, H Orhan Akman, Karine Martin, Jean-Yves Hogrel, Derek Blankenship, Jacob Turner, Fanny Mochel
BACKGROUND: Adult polyglucosan body disease (APBD) is a progressive neurometabolic disorder caused by a deficiency of glycogen branching enzyme. We tested the efficacy of triheptanoin as a therapy for patients with APBD based on the hypothesis that decreased glycogen degradation leads to brain energy deficit. METHODS AND RESULTS: This was a two-site, randomized crossover trial of 23 patients (age 35-73 years; 63% men) who received triheptanoin or vegetable oil as placebo...
November 6, 2017: Journal of Inherited Metabolic Disease
Gregory A Grabowski
Neuroinflammation is an intrinsic component of the neurodegeneration of inborn errors of neurometabolic diseases. Diseases resulting in lysosomal, peroxisomal, and autophagocytic disruption lead to neuroinflammation by different mechanisms relating to accumulated substrates and/or downstream deficiencies that cause presymptomatic microglial activation, axonal instabilities and/or direct hyperactivation of intrinsic inflammatory mechanisms. Only in selected diseases is the blood-brain barrier (BBB) breached, thereby permitting peripheral adaptive immune mechanisms to amplify intrinsic immune reactions in the central nervous system...
August 2017: Seminars in Pediatric Neurology
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