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https://www.readbyqxmd.com/read/28916769/therapeutic-effects-of-the-mitochondrial-ros-redox-modulator-kh176-in-a-mammalian-model-of-leigh-disease
#1
Ria de Haas, Devashish Das, Alejandro Garanto, Herma G Renkema, Rick Greupink, Petra van den Broek, Jeanne Pertijs, Rob W J Collin, Peter Willems, Julien Beyrath, Arend Heerschap, Frans G Russel, Jan A Smeitink
Leigh Disease is a progressive neurometabolic disorder for which a clinical effective treatment is currently still lacking. Here, we report on the therapeutic efficacy of KH176, a new chemical entity derivative of Trolox, in Ndufs4 (-/-) mice, a mammalian model for Leigh Disease. Using in vivo brain diffusion tensor imaging, we show a loss of brain microstructural coherence in Ndufs4 (-/-) mice in the cerebral cortex, external capsule and cerebral peduncle. These findings are in line with the white matter diffusivity changes described in mitochondrial disease patients...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28915150/tics-and-tourette-a-clinical-pathophysiological-and-etiological-review
#2
Russell C Dale
PURPOSE OF REVIEW: Describe developments in the etiological understanding of Tourette syndrome. RECENT FINDINGS: Tourette syndrome is a complex heterogenous clinical syndrome, which is not a unitary entity. Pathophysiological models describe gamma-aminobutyric acid-ergic-associated disinhibition of cortico-basal ganglia motor, sensory and limbic loops. MRI studies support basal ganglia volume loss, with additional white matter and cerebellar changes. Tourette syndrome cause likely involves multiple vulnerability genes and environmental factors...
September 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28912043/abnormal-segments-of-right-uncinate-fasciculus-and-left-anterior-thalamic-radiation-in-major-and-bipolar-depression
#3
Feng Deng, Ying Wang, Huiyuan Huang, Meiqi Niu, Shuming Zhong, Ling Zhao, Zhangzhang Qi, Xiaoyan Wu, Yao Sun, Chen Niu, Yuan He, Li Huang, Ruiwang Huang
Differential brain structural abnormalities between bipolar disorder (BD) and major depressive disorder (MDD) may reflect different pathological mechanisms underlying these two brain disorders. However, few studies have directly compared the brain structural properties, especially in white matter (WM) tracts, between BD and MDD. Using automated fiber-tract quantification (AFQ), we utilized diffusion tensor images (DTI) from 67 unmedicated depressed patients, including 31 BD and 36 MDD, and 45 healthy controls (HC) to create fractional anisotropy (FA) tract profiles along 20 major WM tracts...
September 11, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28910378/neuroinflammation-myelin-and-behavior-temporal-patterns-following-mild-traumatic-brain-injury-in-mice
#4
Toufik Taib, Claire Leconte, Juliette Van Steenwinckel, Angelo H Cho, Bruno Palmier, Egle Torsello, Rene Lai Kuen, Somfieme Onyeomah, Karine Ecomard, Chiara Benedetto, Bérard Coqueran, Anne-Catherine Novak, Edwige Deou, Michel Plotkine, Pierre Gressens, Catherine Marchand-Leroux, Valérie C Besson
Traumatic brain injury (TBI) results in white matter injury (WMI) that is associated with neurological deficits. Neuroinflammation originating from microglial activation may participate in WMI and associated disorders. To date, there is little information on the time courses of these events after mild TBI. Therefore we investigated (i) neuroinflammation, (ii) WMI and (iii) behavioral disorders between 6 hours and 3 months after mild TBI. For that purpose, we used experimental mild TBI in mice induced by a controlled cortical impact...
2017: PloS One
https://www.readbyqxmd.com/read/28902409/binswanger-s-disease-biomarkers-in-the-inflammatory-form-of-vascular-cognitive-impairment-and-dementia
#5
REVIEW
Gary A Rosenberg
Vascular cognitive impairment and dementia (VCID) is a major public health concern because of the increased incidence of vascular disease in the aging population and the impact of vascular disease on Alzheimer's disease. VCID is a heterogeneous group of diseases for which there are no proven treatments. Biomarkers can be used to select more homogeneous populations. Small vessel disease is the most prevalent form of VCID and is the optimal form for treatment trials because there is a progressive course with characteristic pathological changes...
September 13, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28901627/microstructural-white-matter-alterations-in-patients-with-drug-induced-parkinsonism
#6
Yoonju Lee, Yong Ho Choi, Jae Jung Lee, Hye Sun Lee, Young H Sohn, Jong-Min Lee, Phil Hyu Lee
Drug-induced parkinsonism (DIP) is the second most common etiology of parkinsonism. And yet, there is little information on structural imaging in DIP to elucidate the accurate underlying pathomechanisms. To investigate microstructural white matter (WM) in patients with DIP using diffusion tensor image and to determine its relationship to severity of parkinsonian motor symptoms and cognitive function. A total of 42 patients with DIP, 65 with Parkinson's disease, and 33 control subjects were recruited from a movement disorders outpatient clinic...
September 12, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28898497/a-pediatric-structural-mri-analysis-of-healthy-brain-development-from-newborns-to-young-adults
#7
Jacob Levman, Patrick MacDonald, Ashley Ruyan Lim, Cynthia Forgeron, Emi Takahashi
Assessment of healthy brain maturation can be useful toward better understanding natural patterns of brain growth and toward the characterization of a variety of neurodevelopmental disorders as deviations from normal growth trajectories. Structural magnetic resonance imaging (MRI) provides excellent soft-tissue contrast, which allows for the assessment of gray and white matter in the developing brain. We performed a large-scale retrospective analysis of 993 pediatric structural brain MRI examinations of healthy subjects (n = 988, aged 0-32 years) imaged clinically at 3 T, and extracted a wide variety of measurements such as white matter volumes, cortical thickness, and gyral curvature localized to subregions of the brain...
September 12, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28895702/-x-linked-adrenoleukodystrophy-a-report-of-three-cases-the-importance-of-early-diagnosis
#8
Marta López Úbeda, Antonio de Arriba Muñoz, Marta Ferrer Lozano, José I Labarta Aizpún, María C García Jiménez
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28892806/a-novel-missense-gla-mutation-p-g35v-detected-in-hemodialysis-screening-leads-to-severe-systemic-manifestations-of-fabry-disease-in-men-and-women
#9
Valeria Soares Pigozzi Veloso, Thiago Lacerda Ataides, Maria Eugênia Fernandes Canziani, Mariana Pigozzi Veloso, Nilzio Antônio da Silva, Daniela Veit Barreto, Edna Regina Silva Pereira, Luiz Antonio Ribeiro de Moura, Fellype Carvalho Barreto
BACKGROUND/AIMS: Fabry disease (FD), an X-linked lysosomal storage disorder, leads to accumulation of globotriaosylceramide. Screening in dialysis patients may identify genetic variants of unknown clinical significance. We aimed to characterize the pathogenicity of a novel GLA gene mutation identified during hemodialysis screening and the histologic findings of early Fabry nephropathy. METHODS: One out of 108 male hemodialysis patients screened for FD presented low α-galactosidase A activity...
September 12, 2017: Nephron
https://www.readbyqxmd.com/read/28889822/the-relationship-between-obesity-and-cognitive-health-and-decline
#10
Louise Dye, Neil Bernard Boyle, Claire Champ, Clare Lawton
The relationship between obesity and cognitive impairment is important given the globally ageing population in whom cognitive decline and neurodegenerative disorders will carry grave individual, societal and financial burdens. This review examines the evidence for the link between obesity and cognitive function in terms of both the immediate effects on cognitive performance, and effects on the trajectory of cognitive ageing and likelihood of dementia. In mid-life, there is a strong association between obesity and impaired cognitive function...
September 11, 2017: Proceedings of the Nutrition Society
https://www.readbyqxmd.com/read/28889092/quantitative-mr-spectroscopic-imaging-in-metachromatic-leukodystrophy-value-for-prognosis-and-treatment
#11
Diane F van Rappard, Antoine Klauser, Marjan E Steenweg, Jaap Jan Boelens, Marianna Bugiani, Marjo S van der Knaap, Nicole I Wolf, Petra J W Pouwels
OBJECTIVE: To determine whether proton magnetic resonance spectroscopic imaging is useful in predicting clinical course of patients with metachromatic leukodystrophy (MLD), an inherited white matter disorder treatable with haematopoietic cell transplantation (HCT). METHODS: 21 patients with juvenile or adult MLD (12 HCT-treated) were compared with 16 controls in the same age range. Clinical outcome was determined as good, moderate or poor. Metabolites were quantified in white matter, and significance of metabolite concentrations at baseline for outcome prediction was assessed using logistic regression analysis...
September 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28888534/psychiatric-phenotypes-in-chronic-traumatic-encephalopathy
#12
REVIEW
Ian Mahar, Michael L Alosco, Ann C McKee
Chronic traumatic encephalopathy (CTE) is a neurodegenerative disorder involving cognitive, motor, and psychiatrically-relevant symptoms resulting from repetitive head impacts. Psychiatric phenotypes of CTE, including depression and suicidality, present particular challenges for CTE research, given that the diagnosis requires postmortem neuropathological examination. The pathognomonic lesion of CTE is the perivascular accumulation of hyperphosphorylated tau (ptau) protein at the depths of cortical sulci. These lesions are found in the earliest disease stages, and with advancing pathological severity, ptau deposition occurs in widespread brain regions in a four-stage scheme of severity...
September 6, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28886240/a-review-of-diffusion-mri-of-typical-white-matter-development-from-early-childhood-to-young-adulthood
#13
Catherine Lebel, Sarah Treit, Christian Beaulieu
Understanding typical, healthy brain development provides a baseline from which to detect and characterize brain anomalies associated with various neurological or psychiatric disorders and diseases. Diffusion MRI is well suited to study white matter development, as it can virtually extract individual tracts and yield parameters that may reflect alterations in the underlying neural micro-structure (e.g. myelination, axon density, fiber coherence), though it is limited by its lack of specificity and other methodological concerns...
September 8, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28881256/structural-brain-correlates-of-resilience-to-traumatic-stress-in-dutch-police-officers
#14
Steven J A van der Werff, Bernet M Elzinga, Annika S Smit, Nic J A van der Wee
OBJECTIVE: Neurobiological research has traditionally focused on vulnerability rather than on resilience to severe stress. So far, only a few neuroimaging studies examining resilience have used designs that allow disentangling of the neural correlates of resilience from those related to psychopathology or trauma-exposure. The aim of this study was to identify structural brain correlates of resilience, and their correlations with behavioral measures. METHOD: MRI scanning was performed in three groups of police officers: (1) a resilient group (N=29; trauma-exposed, no psychopathology), (2) a vulnerable group (N=33; trauma-exposed, psychopathology), and (3) a control group (N=19; no trauma, no psychopathology)...
August 26, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28879200/the-nuclear-proteome-of-white-and-gray-matter-from-schizophrenia-postmortem-brains
#15
Verônica M Saia-Cereda, Aline G Santana, Andrea Schmitt, Peter Falkai, Daniel Martins-de-Souza
Schizophrenia (SCZ) is a serious neuropsychiatric disorder that manifests through several symptoms from early adulthood. Numerous studies over the last decades have led to significant advances in increasing our understanding of the factors involved in SCZ. For example, mass spectrometry-based proteomic analysis has provided important insights by uncovering protein dysfunctions inherent to SCZ. Here, we present a comprehensive analysis of the nuclear proteome of postmortem brain tissues from corpus callosum (CC) and anterior temporal lobe (ATL)...
July 2017: Molecular Neuropsychiatry
https://www.readbyqxmd.com/read/28877317/association-of-white-matter-structure-with-autism-spectrum-disorder-and-attention-deficit-hyperactivity-disorder
#16
Yuta Aoki, Yuliya N Yoncheva, Bosi Chen, Tanmay Nath, Dillon Sharp, Mariana Lazar, Pablo Velasco, Michael P Milham, Adriana Di Martino
Importance: Clinical overlap between autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) is increasingly appreciated, but the underlying brain mechanisms remain unknown to date. Objective: To examine associations between white matter organization and 2 commonly co-occurring neurodevelopmental conditions, ASD and ADHD, through both categorical and dimensional approaches. Design, Setting, and Participants: This investigation was a cross-sectional diffusion tensor imaging (DTI) study at an outpatient academic clinical and research center, the Department of Child and Adolescent Psychiatry at New York University Langone Medical Center...
September 6, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28876969/noncognitive-behavioral-changes-associated-with-alzheimer-s-disease-implications-of-neuroimaging-findings
#17
Jeff Victoroff, Feng V Lin, Kerry L Coburn, Samuel D Shillcutt, Valerie Voon, Simon Ducharme
Alzheimer's disease (AD) is commonly associated with noncognitive behavioral changes (NCBCs). The authors systematically reviewed whether neuroimaging has helped with understanding the pathophysiology, diagnosis, or management of NCBCs associated with AD, including depression, aggression or agitation, anxiety, apathy, psychosis, and sleep disorder. The authors identified dissociable neural substrates with multimodal imaging: depression implicates the lateral and superior prefrontal cortex; apathy and agitation implicate the dorsal anterior cingulate; psychosis implicates right lateralized frontal and medial temporal areas; and anxiety implicates mesial temporal regions...
September 6, 2017: Journal of Neuropsychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28875553/human-brain-imaging-of-nicotinic-acetylcholine-%C3%AE-4%C3%AE-2-receptors-using-18-f-nifene-selectivity-functional-activity-toxicity-aging-effects-gender-effects-and-extrathalamic-pathways
#18
Jogeshwar Mukherjee, Patrick J Lao, Tobey J Betthauser, Gurleen K Samra, Min-Liang Pan, Ishani H Patel, Christopher Liang, Raju Metherate, Bradley T Christian
Nicotinic acetylcholinergic receptors (nAChR's) have been implicated in several brain disorders, including addiction, Parkinson's disease, Alzheimer's disease and schizophrenia. Here we report in vitro selectivity and functional properties, toxicity in rats, in vivo evaluation in humans, and comparison across species of [(18) F]Nifene, a fast acting PET imaging agent for α4β2* nAChRs. Nifene had subnanomolar affinities for hα2β2 (0.34 nM), hα3β2 (0.80 nM) and hα4β2 (0.83 nM) nAChR but weaker (27 to 219 nM) for hβ4 nAChR subtypes and 169 nM for hα7 nAChR...
September 5, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28875386/novel-spg20-mutation-in-an-extended-family-with-troyer-syndrome
#19
S Bizzari, A R Hamzeh, P Nair, M Mohamed, F Saif, G Aithala, M T Al-Ali, F Bastaki
Troyer Syndrome (TRS) is a rare autosomal recessive complicated spastic paraplegia disorder characterized by various neurological and musculoskeletal manifestations. Pathogenicity stems from mutations in SPG20 which encodes Spartin, a multifunctional protein that is thought to be essential for neuron viability. Here we report on the clinical and molecular characterization of TRS in five patients from an extended consanguineous family in the United Arab Emirates. Molecular analysis involved Whole Exome Sequencing and Sanger sequencing for identification and confirmation of the causative variant respectively...
September 5, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28872667/cognitive-and-neuroimaging-findings-in-developmental-coordination-disorder-new-insights-from-a-systematic-review-of-recent-research
#20
REVIEW
Peter H Wilson, Bouwien Smits-Engelsman, Karen Caeyenberghs, Bert Steenbergen, David Sugden, Jane Clark, Nick Mumford, Rainer Blank
AIM: To better understand the neural and performance factors that may underlie developmental coordination disorder (DCD), and implications for a multi-component account. METHOD: A systematic review of the experimental literature published between June 2011 and September 2016 was conducted using a modified PICOS (population, intervention, comparison, outcomes, and study type) framework. A total of 106 studies were included. RESULTS: Behavioural data from 91 studies showed a broad cluster of deficits in the anticipatory control of movement, basic processes of motor learning, and cognitive control...
September 5, 2017: Developmental Medicine and Child Neurology
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