keyword
MENU ▼
Read by QxMD icon Read
search

Neurometabolic diseases

keyword
https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#1
Hussein Algahtani, Saeed Ghamdi, Bader Shirah, Bader Alharbi, Raghad Algahtani, Abdulrahman Bazaid
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder...
December 1, 2016: Neurological Research
https://www.readbyqxmd.com/read/27859928/microstructural-changes-of-brain-in-patients-with-aromatic-l-amino-acid-decarboxylase-deficiency
#2
Wang-Tso Lee, Jui-Hsiang Lin, Wen-Chin Weng, Steven Shinn-Forng Peng
Aromatic L-amino acid decarboxylase (AADC) deficiency is an uncommon inherited neurometabolic disease. The clinical presentations and MR findings in children with AADC deficiency were investigated. Total 12 children (6 boys, 6 girls), aged from 9 to 50 months (mean, 23 ±13 months), with AADC deficiency, were enrolled for analysis. Of 12 patients enrolled, clinical presentations included global developmental delay with generalized hypotonia in 12 (100%), dystonia in 12 (100%), oculogyric crisis in 12 (100%), and excessive sweating in 8 (67%)...
November 17, 2016: Human Brain Mapping
https://www.readbyqxmd.com/read/27857784/pyridoxine-dependent-convulsions-among-children-with-refractory-seizures-a-3-year-follow-up-study
#3
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, Sai Deepak, Ravi Teja, Seby Kuruthukulangara
INTRODUCTION: Epilepsy accounts for 1% of the global disease burden and about 8-10 million epilepsy patients live in India. About 30-40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries. This is a situation causing great concern in view of the psychosocial and economic burden on the patient and the family apart from severe cognitive and motor consequences, especially in children. Therefore, it is mandatory to have an insight into the wide spectrum of causes with reference to refractoriness to antiepileptic medications in children with epilepsy...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27830117/the-international-working-group-on-neurotransmitter-related-disorders-intd-a-worldwide-research-project-focused-on-primary-and-secondary-neurotransmitter-disorders
#4
Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, Gabriella Horvath, Roser Pons, Eduardo Lopez-Laso, Joaquín A Fernández-Ramos, Tomas Honzik, Toni Pearson, Jennifer Friedman, Sabine Scholl-Bürgi, Tessa Wassenberg, Sabine Jung-Klawitter, Oya Kuseyri, Kathrin Jeltsch, Manju A Kurian, Àngels Garcia-Cazorla
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood. METHODS AND RESULTS: The International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27817865/mecr-mutations-cause-childhood-onset-dystonia-and-optic-atrophy-a-mitochondrial-fatty-acid-synthesis-disorder
#5
Gali Heimer, Juha M Kerätär, Lisa G Riley, Shanti Balasubramaniam, Eran Eyal, Laura P Pietikäinen, J Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J Kastaniotis, Bruria Ben-Zeev, Susan J Hayflick
Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defective mtFAS. Seven individuals from five unrelated families presented with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI. All affected individuals were found to harbor recessive mutations in MECR encoding the mitochondrial trans-2-enoyl-coenzyme A-reductase involved in human mtFAS...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27815831/current-perspective-of-stem-cell-therapy-in-neurodegenerative-and-metabolic-diseases
#6
REVIEW
Ajay Kumar, Karthikeyan Narayanan, Ravi Kumar Chaudhary, Sachin Mishra, Sundramurthy Kumar, Kumar Jayaseelan Vinoth, Parasuraman Padmanabhan, Balázs Gulyás
Neurodegenerative diseases have been an unsolved riddle for quite a while; to date, there are no proper and effective curative treatments and only palliative and symptomatic treatments are available to treat these illnesses. The absence of therapeutic treatments for neurodegenerative ailments has huge economic hit and strain on the society. Pharmacotherapies and various surgical procedures like deep brain stimulation are being given to the patient, but they are only effective for the symptoms and not for the diseases...
November 4, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27749535/a-case-report-of-biotin-thiamine-responsive-basal-ganglia-disease-in-a-saudi-child-is-extended-genetic-family-study-recommended
#7
Mohammad F Aljabri, Naglaa M Kamal, Moinuddin Arif, Asrar M AlQaedi, Enas Y M Santali
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated.We herein present our experience with in an extended family study of an index case of BTRBGD aiming to support its AR mode of inheritance, diagnose asymptomatic and missed symptomatic cases, and provide family screening with proper genetic counseling...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27718422/low-episodic-memory-performance-in-cognitively-normal-elderly-subjects-is-associated-with-increased-posterior-cingulate-gray-matter-n-acetylaspartate-a-1-h-mrsi-study-at-7%C3%A2-tesla
#8
Simon J Schreiner, Thomas Kirchner, Michael Wyss, Jiri M G Van Bergen, Frances C Quevenco, Stefanie C Steininger, Erica Y Griffith, Irene Meier, Lars Michels, Anton F Gietl, Sandra E Leh, Adam M Brickman, Christoph Hock, Roger M Nitsch, Klaas P Pruessmann, Anke Henning, Paul G Unschuld
Low episodic memory performance characterizes elderly subjects at increased risk for Alzheimer's disease (AD) and may reflect neuronal dysfunction within the posterior cingulate cortex and precuneus (PCP) region. To investigate a potential association between cerebral neurometabolism and low episodic memory in the absence of cognitive impairment, tissue-specific magnetic resonance spectroscopic imaging at ultrahigh field strength of 7 Tesla was used to investigate the PCP region in a healthy elderly study population (n = 30, age 70 ± 5...
August 31, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27714692/astrocyte-dysfunction-in-developmental-neurometabolic-diseases
#9
Silvia Olivera-Bravo, Eugenia Isasi, Anabel Fernández, Gabriela Casanova, Juan Carlos Rosillo, Luigi Barbeito
Astrocytes play crucial roles in maintaining brain homeostasis and in orchestrating neural development, all through tightly coordinated steps that cooperate to maintain the balance needed for normal development. Here, we review the alterations in astrocyte functions that contribute to a variety of developmental neurometabolic disorders and provide additional data on the predominant role of astrocyte dysfunction in the neurometabolic neurodegenerative disease glutaric acidemia type I. Finally, we describe some of the therapeutical approaches directed to neurometabolic diseases and discuss if astrocytes can be possible therapeutic targets for treating these disorders...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27635664/an-11-mer-amyloid-beta-peptide-fragment-provokes-chemical-mutations-and-parkinsonian-biomarker-aggregation-in-dopaminergic-cells-a-novel-road-map-for-transfected-parkinson-s
#10
Parijat Kabiraj, Jose Eduardo Marin, Armando Varela-Ramirez, Mahesh Narayan
Amyloid beta (Aβ) aggregation is generally associated with Alzheimer's onset. Here, we demonstrate that incubation of dopaminergic SH-SY5Y cells with an Aβ peptide fragment (an 11-mer composed of residues 25-35; Aβ (25-35)) results in elevated intracellular nitrosative stress and induces chemical mutation of protein disulfide isomerase (PDI), an endoplasmic reticulum-resident oxidoreductase chaperone. Furthermore, Aβ (25-35) provokes aggregation of both the minor and major biomarkers of Parkinson's disease, namely, synphilin-1 and α-synuclein, respectively...
October 3, 2016: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/27631243/in-vivo-neurometabolic-profiling-in-orthostatic-tremor
#11
Julián Benito-León, Elan D Louis, Virginia Mato-Abad, Ulrike Dydak, Juan Álvarez-Linera, Juan Antonio Hernández-Tamames, José Antonio Molina-Arjona, Norberto Malpica, Michele Matarazzo, Juan Pablo Romero, Álvaro Sánchez-Ferro
The pathogenesis of orthostatic tremor (OT) remains unclear, although some evidence points to dysfunction in the brainstem or cerebellum. We used single voxel proton magnetic resonance spectroscopy (1H-MRS) (3 T) to investigate whether neurochemical changes underlie abnormal cerebellar or cortical function in OT. Fourteen OT patients and 14 healthy controls underwent 1H-MRS studies with voxels placed in midparietal gray matter and cerebellum (vermis and central white matter). Spectral analysis was analyzed using the software package LCModel (version 6...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27616477/naxe-mutations-disrupt-the-cellular-nad-p-hx-repair-system-and-cause-a-lethal-neurometabolic-disorder-of-early-childhood
#12
Laura S Kremer, Katharina Danhauser, Diran Herebian, Danijela Petkovic Ramadža, Dorota Piekutowska-Abramczuk, Annette Seibt, Wolfgang Müller-Felber, Tobias B Haack, Rafał Płoski, Klaus Lohmeier, Dominik Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M Strom, Thomas Meitinger, Thomas Klopstock, Ewa Pronicka, Johannes A Mayr, Ivo Baric, Felix Distelmaier, Holger Prokisch
To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites. The clinical importance of the NAD(P)HX repair system has been unknown. Exome sequencing revealed pathogenic biallelic mutations in NAXE in children from four families with (sub-) acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27604308/advantages-and-pitfalls-of-an-extended-gene-panel-for-investigating-complex-neurometabolic-phenotypes
#13
Emma S Reid, Apostolos Papandreou, Suzanne Drury, Christopher Boustred, Wyatt W Yue, Yehani Wedatilake, Clare Beesley, Thomas S Jacques, Glenn Anderson, Lara Abulhoul, Alex Broomfield, Maureen Cleary, Stephanie Grunewald, Sophia M Varadkar, Nick Lench, Shamima Rahman, Paul Gissen, Peter T Clayton, Philippa B Mills
Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities. Despite early specialist input, delays in diagnosis and appropriate treatment initiation are common. Next-generation sequencing approaches still have limitations but are already enabling earlier and more efficient diagnoses in these patients. We designed a gene panel targeting 614 genes causing inborn errors of metabolism and tested its diagnostic efficacy in a paediatric cohort of 30 undiagnosed patients presenting with variable neurometabolic phenotypes...
September 6, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27572858/differential-diagnosis-and-evaluation-in-pediatric-inflammatory-demyelinating-disorders
#14
Kevin Rostasy, Barbara Bajer-Kornek, Sunita Venkateswaran, Cheryl Hemingway, Marc Tardieu
Major advances have been made in the clinical and radiologic characterization of children presenting with the different forms of an acquired inflammatory demyelinating syndrome (ADS) such as acute disseminating encephalomyelitis, neuromyelitis optica spectrum disorders, and clinically isolated syndromes. Nevertheless, a proportion of cases that present with similar symptoms are due to a broad spectrum of other inflammatory disorders affecting the white matter, primary CNS tumors, or neurometabolic diseases...
August 30, 2016: Neurology
https://www.readbyqxmd.com/read/27543339/in-vivo-brain-h1-mr-spectroscopy-identification-and-quantification-of-2-hydroxyglutarate-in-l-2-hydroxyglutaric-aciduria
#15
Elena Anghileri, Nicola Bertolino, Ettore Salsano, Luigi Antelmi, Patrizia Carpinelli, Barbara Castellotti, Ileana Zucca, Cinzia Gellera, Raffaele Bisogno, Claudio Caccia, Valeria Cuccarini
UNLABELLED: L-2-Hydroxyglutaric aciduria (L2HGA) is an extremely rare hereditary neurometabolic disease, characterized by increased L-2-hydroxyglutarate (L2HG) levels in the brain and biological fluids. 24-h urine 2HG level remains the biochemical hallmark for the diagnosis of L2HGA, whereas it is unknown the feasibility to measure in vivo the intracerebral levels of 2HG by using magnetic resonance spectroscopy (MRS). PATIENTS AND METHODS: We used at 3T H(1)-MRS Single-Voxel (SV) PRESS sequences tailored to detect 2HG, in three adult patients with the diagnosis of L2HGA and in healthy controls...
October 1, 2016: Brain Research
https://www.readbyqxmd.com/read/27488561/diagnostic-and-prognostic-value-of-in-vivo-proton-mr-spectroscopy-for-zellweger-syndrome-spectrum-patients
#16
H Rosewich, P Dechent, C Krause, A Ohlenbusch, K Brockmann, J Gärtner
Defects in the biogenesis of peroxisomes cause a clinically and genetically heterogeneous group of neurometabolic disorders, the Zellweger syndrome spectrum (ZSS). Diagnosis predominantly is based on characteristic clinical symptoms, a typical biochemical profile, as well as on identification of the molecular defect in any of the 12 known human PEX genes. The diagnostic workup can be hindered if the typical clinical symptoms are missing and predicting the clinical course of a given patient is almost unfeasible...
November 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27469131/diaphragmatic-eventration-in-sisters-with-asparagine-synthetase-deficiency-a-novel-homozygous-asns-mutation-and-expanded-phenotype
#17
Jun Sun, Angela J McGillivray, Jason Pinner, Zhihui Yan, Fengxia Liu, Drago Bratkovic, Elizabeth Thompson, Xiuxiu Wei, Huifeng Jiang, Asan, Maya Chopra
BACKGROUND: Asparagine Synthetase Deficiency (ASNSD; OMIM #615574) is a newly described rare autosomal recessive neurometabolic disorder, characterised by congenital microcephaly, severe psychomotor delay, encephalopathy and progressive cerebral atrophy. To date, seven families and seven missense mutations in the ASNSD disease causing gene, ASNS, have been published. METHODS: We report two further affected infant sisters from a consanguineous Indian family, who in addition to the previously described features had diaphragmatic eventration...
July 27, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27460153/age-dependent-changes-in-the-glutamate-nitric-oxide-pathway-in%C3%A2-the-hippocampus-of-the-triple-transgenic-model-of-alzheimer-s-disease-implications-for-neurometabolic-regulation
#18
Cândida Dias, Cátia F Lourenço, Elisabete Ferreiro, Rui M Barbosa, João Laranjinha, Ana Ledo
Age-dependent changes in nitric oxide ((•)NO) concentration dynamics may play a significant role in both decaying synaptic and metabolic functions in Alzheimer's disease (AD). This neuromodulator acts presynaptically to increase vesicle release and glutamatergic transmission and also regulates mitochondrial function. Under conditions of altered intracellular redox environment, (•)NO may react and produce reactive species such as peroxynitrite. Using the triple transgenic mouse model of AD (3xTgAD), we investigated age-dependent changes in the glutamate-(•)NO axis in the hippocampus...
October 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27422383/hyperekplexia-microcephaly-and-simplified-gyral-pattern-caused-by-novel-asns-mutations-case-report
#19
Mohammed Zain Seidahmed, Mustafa A Salih, Omer B Abdulbasit, Abdulmohsen Samadi, Khalid Al Hussien, Abeer M Miqdad, Maha S Biary, Anas M Alazami, Ibrahim A Alorainy, Mohammad M Kabiraj, Ranad Shaheen, Fowzan S Alkuraya
BACKGROUND: Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia. Brain MRI typically shows cerebral atrophy with simplified gyral pattern and delayed myelination. Only 12 cases have been described to date. The disease is caused by homozygous or compound heterozygous mutations in the ASNS gene on chromosome 7q21...
2016: BMC Neurology
https://www.readbyqxmd.com/read/27375759/neurometabolic-diagnosis-in-children-who-referred-as-neurodevelopmental-delay-a-practical-criteria-in-iranian-pediatric-patients
#20
Parvaneh Karimzadeh, Narjes Jafari, Habibeh Nejad Biglari, Sayena Jabbehdari, Simin Khayat Zadeh, Farzad Ahmad Abadi, Azra Lotfi
OBJECTIVE: We aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones. MATERIALS & METHODS: The patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between 2004 and 2014 were included in our study. These patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests...
2016: Iranian Journal of Child Neurology
keyword
keyword
93744
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"