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https://www.readbyqxmd.com/read/29997171/aberrant-regulation-of-the-gsk-3%C3%AE-nrf2-axis-unveils-a-novel-therapy-for-adrenoleukodystrophy
#1
Pablo Ranea-Robles, Nathalie Launay, Montserrat Ruiz, Noel Ylagan Calingasan, Magali Dumont, Alba Naudí, Manuel Portero-Otín, Reinald Pamplona, Isidre Ferrer, M Flint Beal, Stéphane Fourcade, Aurora Pujol
The nuclear factor erythroid 2-like 2 (NRF2) is the master regulator of endogenous antioxidant responses. Oxidative damage is a shared and early-appearing feature in X-linked adrenoleukodystrophy (X-ALD) patients and the mouse model ( Abcd1 null mouse). This rare neurometabolic disease is caused by the loss of function of the peroxisomal transporter ABCD1, leading to an accumulation of very long-chain fatty acids and the induction of reactive oxygen species of mitochondrial origin. Here, we identify an impaired NRF2 response caused by aberrant activity of GSK-3β...
July 11, 2018: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29987523/computational-approach-to-unravel-the-impact-of-missense-mutations-of-proteins-d2hgdh-and-idh2-causing-d-2-hydroxyglutaric-aciduria-2
#2
D Thirumal Kumar, L Jerushah Emerald, C George Priya Doss, P Sneha, R Siva, W Charles Emmanuel Jebaraj, Hatem Zayed
The 2-hydroxyglutaric aciduria (2-HGA) is a rare neurometabolic disorder that leads to the development of brain damage. It is classified into three categories: D-2-HGA, L-2-HGA, and combined D,L-2-HGA. The D-2-HGA includes two subtypes: type I and type II caused by the mutations in D2HGDH and IDH2 proteins, respectively. In this study, we studied six mutations, four in the D2HGDH (I147S, D375Y, N439D, and V444A) and two in the IDH2 proteins (R140G, R140Q). We performed in silico analysis to investigate the pathogenicity and stability changes of the mutant proteins using pathogenicity (PANTHER, PhD-SNP, SIFT, SNAP, and META-SNP) and stability (i-Mutant, MUpro, and iStable) predictors...
July 9, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29983176/-physical-activity-in-patients-with-schizophrenia-from-neurobiology-to-clinical-benefits
#3
M Tréhout, S Dollfus
Schizophrenia is a severe chronic mental disorder that mainly manifests by positive symptoms, negative symptoms, disorganized behavior and thought and cognitive impairments. Taken together, these symptoms have substantial impact on quality of life, well-being and functional outcome. Patients with schizophrenia have dramatically higher levels of cardiovascular and metabolic morbidity than the general population due to poor physical fitness and to sedentary lifestyle. They have a reduced life expectancy, and an excess mortality being two or three times more than that in the general population...
July 5, 2018: L'Encéphale
https://www.readbyqxmd.com/read/29980968/induced-pluripotent-stem-cells-ipscs-as-model-to-study-inherited-defects-of-neurotransmission-in-inborn-errors-of-metabolism
#4
Sabine Jung-Klawitter, Thomas Opladen
The ability to reprogram somatic cells to induced pluripotent stem cells (iPSCs) has revolutionized the way of modeling human disease. Especially for the modeling of rare human monogenetic diseases with limited numbers of patients available worldwide and limited access to the mostly affected tissues, iPSCs have become an invaluable tool. To study rare diseases affecting neurotransmitter biosynthesis and neurotransmission, stem cell models carrying patient-specific mutations have become highly important as most of the cell types present in the human brain and the central nervous system (CNS), including motoneurons, neurons, oligodendrocytes, astrocytes, and microglia, can be differentiated from iPSCs following distinct developmental programs...
July 6, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29971195/a-treatable-rare-cause-of-progressive-ataxia-and-palatal-tremor
#5
Malco Rossi, Martin Cesarini, Emilia M Gatto, Angel Cammarota, Marcelo Merello
Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms. Case Report: An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts. Discussion: The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29929752/nonketotic-hyperglycinemia-clinical-range-and-outcome-of-a-rare-neurometabolic-disease-in-a-single-center
#6
Çiğdem Genç Sel, Mustafa Kılıç, Deniz Yüksel, Ayşe Aksoy, Çiğdem Seher Kasapkara, Serdar Ceylaner, Kader Karlı Oğuz
BACKGROUND: Nonketotic hyperglycinemia (NKH) is an autosomal recessive severe life-threatening catostrophic metabolic disorder. MATERIALS AND METHODS: The present study was conducted in a tertiary reference center in Turkey for six years period. The accurate diagnosis of six NKH patients was based on clinical history of the patients, neurological examinations, seizure semiology, serial electroencephalography (EEG) recordings, neuroimaging findings, metabolic tests and genetic analysis...
June 18, 2018: Brain & Development
https://www.readbyqxmd.com/read/29885426/understanding-individual-variability-in-symptoms-and-recovery-following-mtbi-a-role-for-tms-eeg
#7
REVIEW
Hannah L Coyle, Jennie Ponsford, Kate E Hoy
The pathophysiology associated with mild traumatic brain injury (mTBI) includes neurometabolic and cytoskeletal changes that have been shown to impair structural and functional connectivity. Evidence that persistent neuropsychological impairments post injury are linked to structural and functional connectivity changes is increasing. However, to date the relationship between connectivity changes, heterogeneity of persistent symptoms and recovery post mTBI has been poorly characterised. Recent innovations in neuroimaging provide new ways of exploring connectivity changes post mTBI...
June 6, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29876912/-novel-treatments-in-neurometabolic-diseases-the-importance-of-chaperones
#8
B Perez
Incorrect protein folding has been related to a number of genetic diseases. In these pathologies, loss and gain of function mutations can cause protein instability, giving rise to alterations in their catalytic properties or in their subcellular location. The literature includes reports of a number of diseases, called conformational diseases, which are produced by mutations that affect folding. Therefore, many pathologies could benefit from treatment with certain drugs such as proteostasis regulators or pharmacologic chaperones...
June 5, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29876911/-new-insights-in-inborn-errors-of-metabolism-are-leading-to-new-paradigms-in-child-neurology
#9
A Garcia-Cazorla, J M Saudubray
In the last recent years, the -omics era has already transformed child neurology. Next generation sequencing (NGS) has identified many novel disease causing genes and phenotypes. While genetics is of great importance as a diagnostic tool, it is less helpful when it comes to a comprehensive understanding of mechanisms of brain dysfunction. Child neurologists are at high risk of being lost in genomics if they do not face the necessity of a new approach in their clinical practice. The large amount of data provided by NGS is just one more element in a complex puzzle...
June 5, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29871004/age-related-changes-and-reference-values-of-bicaudate-ratio-and-sagittal-brainstem-diameters-on-mri
#10
Sven F Garbade, Nikolas Boy, Jana Heringer, Stefan Kölker, Inga Harting
Cranial magnetic resonance imaging (MRI) plays an important role in the diagnosis of neurometabolic diseases, and, in addition, temporal patterns of signal and volume changes allow insight into the underlying pathogenesis. While assessment of volume changes by visual inspection is subjective, volumetric approaches are often not feasible with rare neurometabolic diseases, where MRIs are often acquired with different scanners and protocols. Linear surrogate parameters of brain volume, for example, the bicaudate ratio, present a robust alternative that can be derived from standard imaging sequences...
August 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29851841/when-dysphoria-is-not-a-primary-mental-state-a-case-report-of-the-role-of-the-aromatic-l-aminoacid-decarboxylase
#11
Simona Portaro, Agnese Gugliandolo, Domenico Scionti, Simona Cammaroto, Rosa Morabito, Salvatore Leonardi, Filippo Fraggetta, Placido Bramanti, Emanuela Mazzon
RATIONALE: The aromatic L-amino acid decarboxylase (AADC) deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder caused by a deficit of the AADC that is involved in serotonin and dopamine biosynthesis, causing as a consequence, their deficits, but also a lack of norepinephrine and epinephrine, given that dopamine is their precursor. PATIENT CONCERNS: We report the case of a Caucasian 43-year-old woman heterozygous for p.Ser250Phe in DDC, encoding for AADC with a positive family history for behavioral problems...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29802602/dependence-on-subconcussive-impacts-of-brain-metabolism-in-collision-sport-athletes-an-mr-spectroscopic-study
#12
Sumra Bari, Diana O Svaldi, Ikbeom Jang, Trey E Shenk, Victoria N Poole, Taylor Lee, Ulrike Dydak, Joseph V Rispoli, Eric A Nauman, Thomas M Talavage
Long term neurological impairments due to repetitive head trauma are a growing concern for collision sport athletes. American Football has the highest rate of reported concussions among male high school athletes, a position held by soccer for female high school athletes. Recent research has shown that subconcussive events experienced by collision sport athletes can be a further significant source of accrued damage. Collision sport athletes experience hundreds of subconcussive events in a single season, and these largely go uninvestigated as they produce no overt clinical symptoms...
May 25, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29795463/the-vagus-neurometabolic-interface-and-clinical-disease
#13
REVIEW
Emily Battinelli Masi, Sergio Iván Valdés-Ferrer, Benjamin Ethan Steinberg
The nervous system both monitors and modulates body metabolism to maintain homoeostasis. In disease states such as obesity and diabetes, the neurometabolic interface is dysfunctional and contributes to clinical illness. The vagus nerve, in particular, with both sensory and motor fibres, provides an anatomical substrate for this interface. Its sensory fibres contain receptors for important circulating metabolic mediators, including leptin and cholecystokinin, and provide real-time information about these mediators to the central nervous system...
June 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29786802/-treatment-with-neurostimulation-and-ketogenic-diet-for-people-with-medically-refractory-epilepsy
#14
Eva Kumlien, Tove Hallbook, Maria Dahlin
For some people with medically refractory epilepsy adjunct treatment with neurostimulation and ketogenic diet can be an option. Vagal nerve stimulation, VNS, consists of chronic intermittent electrical stimulation of the vagus nerve. VNS is effective and well tolerated in adolescents and adults. There is insufficient evidence on the efficacy of deep brain stimulation, DBS, and brain-responsive neurostimulation, RNS. Ketogenic diet is an established treatment in epilepsy with an increased number of indications, especially in neurometabolic diseases, where dietary therapy can completely eliminate epilepsy and improve cognitive and motor development...
May 22, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29779173/long-lasting-high-lysine-diet-aggravates-white-matter-injury-in-glutaryl-coa-dehydrogenase-deficient-gcdh-mice
#15
Silvia Olivera-Bravo, Bianca Seminotti, Eugenia Isasi, César A Ribeiro, Guilhian Leipnitz, Michael Woontner, Stephen I Goodman, Diogo Souza, Luis Barbeito, Moacir Wajner
Glutaric acidemia type I (GA-I) is a neurometabolic disease caused by deficient activity of glutaryl-CoA dehydrogenase (GCDH) that results in accumulation of metabolites derived from lysine (Lys), hydroxylysine, and tryptophan catabolism. GA-I patients typically develop encephalopatic crises with striatal degeneration and progressive white matter defects. However, late onset patients as well as Gcdh-/- mice only suffer diffuse myelinopathy, suggesting that neuronal death and white matter defects are different pathophysiological events...
May 19, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#16
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29739804/etiology-and-treatment-of-adrenoleukodystrophy-new-insights-from-drosophila
#17
Hannah B Gordon, Lourdes Valdez, Anthea Letsou
Adrenoleukodystrophy (ALD) is a fatal progressive neurodegenerative disorder affecting brain white matter. The most common form of ALD is X-linked (X-ALD) and results from mutation of the ABCD1 -encoded very-long-chain fatty acid (VLCFA) transporter. X-ALD is clinically heterogeneous, with the cerebral form being the most severe. Diagnosed in boys usually between the ages of 4 and 8 years, cerebral X-ALD symptoms progress rapidly (in as little as 2 years) through declines in cognition, learning and behavior, to paralysis and ultimately to a vegetative state and death...
June 15, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29735120/movement-disorders-and-neurometabolic-diseases
#18
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29713308/-in-vivo-multimodal-magnetic-resonance-imaging-changes-after-n-methyl-d-aspartate-triggered-spasms-in-infant-rats
#19
Minyoung Lee, Mi-Sun Yum, Dong-Cheol Woo, Woo-Hyun Shim, Tae-Sung Ko, Libor Velíšek
Objective: Despite the serious neurodevelopmental sequelae of epileptic encephalopathy during infancy, the pathomechanisms involved remain unclear. To find potential biomarkers that can reflect the pathogenesis of epileptic encephalopathy, we explored the neurometabolic and microstructural sequelae after infantile spasms using a rat model of infantile spasms and in vivo magnetic resonance imaging techniques. Methods: Rats prenatally exposed to betamethasone were subjected to three rounds of intraperitoneal N -methyl-d-aspartate (NMDA) triggering of spasms or received saline injections (controls) on postnatal days (P) 12, 13, and 15...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29700128/letter-to-the-editor-neurometabolic-resting-state-networks-derived-from-seed-based-functional-connectivity-analysis
#20
Nicola Trotta, Kristof Baete, Koen Van Laere, Serge Goldman, Xavier De Tiège, Vincent Wens
No abstract text is available yet for this article.
April 26, 2018: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
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