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Neurometabolic diseases

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https://www.readbyqxmd.com/read/28100251/consensus-guideline-for-the-diagnosis-and-treatment-of-aromatic-l-amino-acid-decarboxylase-aadc-deficiency
#1
REVIEW
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L Pearl, Wang Tso Lee, Manju A Kurian, Simon Heales, Lisa Flint, Marcel Verbeek, Michèl Willemsen, Thomas Opladen
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms.In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology...
January 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28093642/the-ethical-framework-for-performing-research-with-rare-inherited-neurometabolic-disease-patients
#2
Viviana Giannuzzi, Hugo Devlieger, Lucia Margari, Viveca Lena Odlind, Lamis Ragab, Cinzia Maria Bellettato, Francesca D'Avanzo, Christina Lampe, Linda Cassis, Elisenda Cortès-Saladelafont, Ángels Garcia Cazorla, Ivo Barić, Ljerka Cvitanović-Šojat, Ksenija Fumić, Christine I Dali, Franco Bartoloni, Fedele Bonifazi, Maurizio Scarpa, Adriana Ceci
: The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patients; the neurological impairment may compromise the capability to provide 'consent'; and the genetic nature of the disease leads to further ethical implications. This work is intended to identify the ethical provisions applicable to clinical research involving these patients and to evaluate if these cover the ethical issues...
January 16, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28062662/disease-causing-mutations-affecting-surface-residues-of-mitochondrial-glutaryl-coa-dehydrogenase-impair-stability-heteromeric-complex-formation-and-mitochondria-architecture
#3
Jessica Schmiesing, Benjamin Lohmöller, Michaela Schweizer, Henning Tidow, Søren W Gersting, Ania C Muntau, Thomas Braulke, Chris Mühlhausen
The neurometabolic disorder glutaric aciduria type 1 (GA1) is caused by mutations in the GCDH gene encoding the mitochondrial matrix protein glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes. Twenty percent of all pathogenic mutations affect single amino acid residues on the surface of GCDH resulting in a severe clinical phenotype. We report here on heterologous expression studies of 18 missense mutations identified in GA1 patients affecting surface amino acids. Western blot and pulse chase experiments revealed that the stability of half of the GCDH mutants was significantly reduced...
January 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28047515/su-f-i-67-neurometabolic-effect-induced-by-repeated-exposure-to-dizocilpine-on-prefrontal-cortex-of-schizophrenic-animal-model-using-in-vivo-proton-magnetic-resonance-spectroscopy-at-9-4-t
#4
C-H Yoo, K-H Song, S-I Lim, D-C Woo, B-Y Choe
PURPOSE: Repeated exposure of dizocilpine (MK-801) can provide a pathophysiological model for progressive development of schizophrenia. In vivo proton magnetic resonance spectroscopy ((1) H MRS) was widely used for non-invasive measurement of neurometabolites, and assessment of disease-induced neurometabolic alterations. The purpose of this study was to investigate neurometabolic alteration in prefrontal cortex (PFC) with respect to progression (from first-episode to chronic stage) of schizophrenia by using in vivo (1) H MRS...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28028868/neurometabolic-profiles-of-the-substantia-nigra-and-striatum-of-mptp-intoxicated-common-marmosets-an-in-vivo-proton-mrs-study-at-9-4%C3%A2-t
#5
Hwon Heo, Jae-Bum Ahn, Hyeong Hun Lee, Euna Kwon, Jun-Won Yun, Hyeonjin Kim, Byeong-Cheol Kang
Given the strong coupling between the substantia nigra (SN) and striatum (STR) in the early stage of Parkinson's disease (PD), yet only a few studies reported to date that have simultaneously investigated the neurochemistry of these two brain regions in vivo, we performed longitudinal metabolic profiling in the SN and STR of 1-methyl-1,2,3,6-tetrahydropyridine (MPTP)-intoxicated common marmoset monkey models of PD (n = 10) by using proton MRS ((1) H-MRS) at 9.4 T. T2 relaxometry was also performed in the SN by using MRI...
December 28, 2016: NMR in Biomedicine
https://www.readbyqxmd.com/read/28028858/mid-face-toddler-excoriation-syndrome-mites-a-new-paediatric-diagnosis
#6
S M Srinivas, V K Gowda, C M Owen, C Moss, R Hiremagalore
Chronic ulcerating lesions on the face are rarely seen in toddlers. Blistering disease, vasculitis, infections and self-mutilation due to neurometabolic disease can usually be excluded on clinical and histological grounds. In the absence of identifiable disease, such lesions are sometimes attributed to child abuse or fabricated illness. We describe three toddlers with chronic mid-face erosions, two from India and one from the UK. One had moderate developmental delay and one had had seizures. The lesions appeared to be self-inflicted, no underlying disease was identified and there was no suspicion of child abuse...
January 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28007989/cad-mutations-and-uridine-responsive-epileptic-encephalopathy
#7
Johannes Koch, Johannes A Mayr, Bader Alhaddad, Christian Rauscher, Jörgen Bierau, Reka Kovacs-Nagy, Karlien L M Coene, Ingrid Bader, Monika Holzhacker, Holger Prokisch, Hanka Venselaar, Ron A Wevers, Felix Distelmaier, Tilman Polster, Steffen Leiz, Cornelia Betzler, Tim M Strom, Wolfgang Sperl, Thomas Meitinger, Saskia B Wortmann, Tobias B Haack
Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis. Alternatively, pyrimidines can be recycled from uridine. Exome sequencing in three families identified biallelic CAD mutations in four children with global developmental delay, epileptic encephalopathy, and anaemia with anisopoikilocytosis...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28004277/tauroursodeoxycholic-bile-acid-arrests-axonal-degeneration-by-inhibiting-the-unfolded-protein-response-in-x-linked-adrenoleukodystrophy
#8
Nathalie Launay, Montserrat Ruiz, Laia Grau, Francisco J Ortega, Ekaterina V Ilieva, Juan José Martínez, Elena Galea, Isidre Ferrer, Erwin Knecht, Aurora Pujol, Stéphane Fourcade
The activation of the highly conserved unfolded protein response (UPR) is prominent in the pathogenesis of the most prevalent neurodegenerative disorders, such as Alzheimer's disease (AD), Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS), which are classically characterized by an accumulation of aggregated or misfolded proteins. This activation is orchestrated by three endoplasmic reticulum (ER) stress sensors: PERK, ATF6 and IRE1. These sensors transduce signals that induce the expression of the UPR gene programme...
December 21, 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/27984186/immunolocalization-of-glutaryl-coa-dehydrogenase-gcdh-in-adult-and-embryonic-rat-brain-and-peripheral-tissues
#9
Olivier Braissant, Paris Jafari, Noémie Remacle, Hong-Phuc Cudré-Cung, Sonia Do Vale Pereira, Diana Ballhausen
Glutaryl-CoA dehydrogenase (GCDH) is a mitochondrial enzyme that is involved in the degradation of tryptophan, lysine and hydroxylysine. Deficient enzyme activity leads to glutaric aciduria type-I (GA-I). This neurometabolic disease usually manifests with acute encephalopathic crises and striatal neuronal death in early childhood leading to an irreversible dystonic-dyskinetic movement disorder. Fronto-temporal atrophy and white matter changes are already present in the pre-symptomatic period. No detailed information on GCDH expression during embryonic development and in adulthood was available so far...
October 27, 2016: Neuroscience
https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#10
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...
February 2017: Neurological Research
https://www.readbyqxmd.com/read/27859928/microstructural-changes-of-brain-in-patients-with-aromatic-l-amino-acid-decarboxylase-deficiency
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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...
December 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27714692/astrocyte-dysfunction-in-developmental-neurometabolic-diseases
#18
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
#19
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...
November 16, 2016: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/27631243/in-vivo-neurometabolic-profiling-in-orthostatic-tremor
#20
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)
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