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https://www.readbyqxmd.com/read/28334938/clinical-and-genetic-characterization-of-leukoencephalopathies-in-adults
#1
David S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lucia Inês Macedo-Souza, Rahul Lakshmanan, Justin A Kinsella, Aine Merwick, Alexander M Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J Morrison, Deborah Hughes, Alan Pittman, Matilde Laurà, Mary M Reilly, Jason D Warren, Catherine J Mummery, Jonathan M Schott, Matthew Adams, Nick C Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden
Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all...
March 2, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334875/white-matter-changes-in-paediatric-multiple-sclerosis-and-monophasic-demyelinating-disorders
#2
Giulia Longoni, Robert A Brown, Parya MomayyezSiahkal, Colm Elliott, Sridar Narayanan, Amit Bar-Or, Ruth Ann Marrie, E Ann Yeh, Massimo Filippi, Brenda Banwell, Douglas L Arnold
Most children who experience an acquired demyelinating syndrome of the central nervous system will have a monophasic disease course, with no further clinical or radiological symptoms. A subset will be diagnosed with multiple sclerosis, a life-long disorder. Using linear mixed effects models we examined longitudinal diffusion properties of normal-appearing white matter in 505 serial scans of 132 paediatric participants with acquired demyelinating syndromes followed for a median of 4.4 years, many from first clinical presentation, and 106 scans of 80 healthy paediatric participants...
March 14, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334615/the-ncam1-gene-set-is-linked-to-depressive-symptoms-and-their-brain-structural-correlates-in-healthy-individuals
#3
Jana Petrovska, David Coynel, Matthias Fastenrath, Annette Milnik, Bianca Auschra, Tobias Egli, Leo Gschwind, Francina Hartmann, Eva Loos, Klara Sifalakis, Christian Vogler, Dominique J-F de Quervain, Andreas Papassotiropoulos, Angela Heck
Depressive symptoms exist on a continuum, the far end of which is found in depressive disorders. Utilizing the continuous spectrum of depressive symptoms may therefore contribute to the understanding of the biological underpinnings of depression. Gene set enrichment analysis (GSEA) is an important tool for the identification of gene groups linked to complex traits, and was applied in the present study on genome-wide association study (GWAS) data of depression scores and their brain-level structural correlates in healthy young individuals...
March 6, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28332051/white-matter-involvement-on-dti-mri-in-cushing-s-syndrome-relates-to-mood-disturbances-and-processing-speed-a-case-control-study
#4
Patricia Pires, Alicia Santos, Yolanda Vives-Gilabert, Susan M Webb, Aitor Sainz-Ruiz, Eugenia Resmini, Iris Crespo, Manel de Juan-Delago, Beatriz Gómez-Anson
PURPOSE: Cushing's syndrome (CS) is an endocrine disorder due to prolonged exposure to cortisol. Recently, microstructural white matter (WM) alterations detected by diffusion tensor imaging (DTI) have been reported in CS patients, and related to depression, but other functional significances. remain otherwise unclear. We aimed at investigating in more depth mood symptoms in CS patients, and how these relate to cognition (information processing speed), and to WM alterations on DTI. METHODS: The sample comprised 35 CS patients and 35 healthy controls...
March 22, 2017: Pituitary
https://www.readbyqxmd.com/read/28326199/predictors-of-recovery-from-traumatic-brain-injury-induced-prolonged-consciousness-disorder
#5
Hiroaki Abe, Keigo Shimoji, Yoshihide Nagamine, Satoru Fujiwara, Shin-Ichi Izumi
We investigated the clinical predictors of the degree of recovery in patients with prolonged disorders of consciousness (PDC) caused by traumatic brain injury. Fourteen patients with PDC underwent two diffusion tensor imaging (DTI) studies; the first and second scans were performed at 345.6 ± 192.6 and 689.1 ± 272.2 days after the injury, respectively. In addition to the temporal changes in each of these diffusion parameters, fractional anisotropy (FA), mean diffusivity, axial diffusivity (AD), and radial diffusivity were assessed over a 1-year period...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28323821/comparing-resting-state-fmri-de-noising-approaches-using-multi-and-single-echo-acquisitions
#6
Ottavia Dipasquale, Arjun Sethi, Maria Marcella Laganà, Francesca Baglio, Giuseppe Baselli, Prantik Kundu, Neil A Harrison, Mara Cercignani
Artifact removal in resting state fMRI (rfMRI) data remains a serious challenge, with even subtle head motion undermining reliability and reproducibility. Here we compared some of the most popular single-echo de-noising methods-regression of Motion parameters, White matter and Cerebrospinal fluid signals (MWC method), FMRIB's ICA-based X-noiseifier (FIX) and ICA-based Automatic Removal Of Motion Artifacts (ICA-AROMA)-with a multi-echo approach (ME-ICA) that exploits the linear dependency of BOLD on the echo time...
2017: PloS One
https://www.readbyqxmd.com/read/28322982/toward-biomarkers-of-the-addicted-human-brain-using-neuroimaging-to-predict-relapse-and-sustained-abstinence-in-substance-use-disorder
#7
REVIEW
Scott J Moeller, Martin P Paulus
The ability to predict relapse is a major goal of drug addiction research. Clinical and diagnostic measures are useful in this regard, but these measures do not fully and consistently identify who will relapse and who will remain abstinent. Neuroimaging approaches have the potential to complement these standard clinical measures to optimize relapse prediction. The goal of this review was to survey the existing drug addiction literature that either used a baseline functional or structural neuroimaging phenotype to longitudinally predict a clinical outcome, or that examined test-retest of a neuroimaging phenotype during a course of abstinence or treatment...
March 16, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28320130/spg2-mimicking-multiple-sclerosis-in-a-family-identified-using-next-generation-sequencing
#8
Anna Rubegni, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M Santorelli, Antonio Federico
Several single gene disorders can potentially be overlooked in the differential diagnostic evaluation of patients with multiple sclerosis (MS). Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1. Neurological symptoms are occasionally observed in female carriers of these mutations. Two women - the proposita (Pt1) and her mother (Pt2) - reported walking difficulties since adolescence and showed progressive cognitive decline...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319253/heat-shock-protein-expression-in-cerebral-x-linked-adrenoleukodystrophy-reveals-astrocyte-stress-prior-to-myelin-loss
#9
Anna Lena Görtz, Laura A N Peferoen, Wouter H Gerritsen, Johannes M van Noort, Marianna Bugiani, Sandra Amor
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a genetic white matter disorder in which demyelination occurs due to accumulation of very long chain fatty acids. Inflammation in the brain white matter is a hallmark of the pathology of cerebral X-ALD, but the underlying pathogenic mechanisms are still largely unknown. In other inflammatory demyelinating disorders such as multiple sclerosis, the expression of heat shock proteins (HSPs) in combination with interferon-γ (IFN-γ) has been suggested to play a prominent role in the initiation of demyelination and inflammation...
March 20, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28316772/neural-circuitry-at-age-6%C3%A2-months-associated-with-later-repetitive-behavior-and-sensory-responsiveness-in-autism
#10
Jason J Wolff, Meghan R Swanson, Jed T Elison, Guido Gerig, John R Pruett, Martin A Styner, Clement Vachet, Kelly N Botteron, Stephen R Dager, Annette M Estes, Heather C Hazlett, Robert T Schultz, Mark D Shen, Lonnie Zwaigenbaum, Joseph Piven
BACKGROUND: Restricted and repetitive behaviors are defining features of autism spectrum disorder (ASD). Under revised diagnostic criteria for ASD, this behavioral domain now includes atypical responses to sensory stimuli. To date, little is known about the neural circuitry underlying these features of ASD early in life. METHODS: Longitudinal diffusion tensor imaging data were collected from 217 infants at high familial risk for ASD. Forty-four of these infants were diagnosed with ASD at age 2...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28315740/population-based-mri-and-dti-templates-of-the-adult-ferret-brain-and-tools-for-voxelwise-analysis
#11
E B Hutchinson, S C Schwerin, K L Radomski, N Sadeghi, J Jenkins, M E Komlosh, M O Irfanoglu, S L Juliano, C Pierpaoli
Non-invasive imaging has the potential to play a crucial role in the characterization and translation of experimental animal models to investigate human brain development and disorders, especially when employed to study animal models that more accurately represent features of human neuroanatomy. The purpose of this study was to build and make available MRI and DTI templates and analysis tools for the ferret brain as the ferret is a well-suited species for pre-clinical MRI studies with folded cortical surface, relatively high white matter volume and body dimensions that allow imaging with pre-clinical MRI scanners...
March 15, 2017: NeuroImage
https://www.readbyqxmd.com/read/28306143/mutant-eif2b-leads-to-impaired-mitochondrial-oxidative-phosphorylation-in-vanishing-white-matter-disease
#12
Gali Raini, Reut Sharet, Melisa Herrero, Andrea Atzmon, Anjana Shenoy, Tamar Geiger, Orna Elroy-Stein
Eukaryotic translation initiation factor 2B (eIF2B) is a master regulator of protein synthesis under normal and stress conditions. Mutations in any of the five genes encoding its subunits lead to Vanishing White Matter (VWM) disease, a recessive genetic deadly illness caused by progressive loss of white matter in the brain. In the current study we used fibroblasts, which are not involved in the disease, to demonstrate the involvement of eIF2B in mitochondrial function and abundance. Mass-spectrometry of total proteome of mouse embryonic fibroblasts (MEFs) isolated from Eif2b5(R132H/R132H) mice revealed unbalanced stoichiometry of proteins involved in oxidative phosphorylation and of mitochondrial translation machinery components, among others...
March 17, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28301102/neural-correlates-of-language-variability-in-preschool-aged-boys-with-autism-spectrum-disorder
#13
Letitia R Naigles, Ryan Johnson, Ann Mastergeorge, Sally Ozonoff, Sally J Rogers, David G Amaral, Christine Wu Nordahl
Children with autism vary widely in their language abilities, yet the neural correlates of this language variability remain unclear, especially early in development. Diffusion tensor imaging (DTI) was used to examine diffusivity measures along the length of 18 major fiber tracts in 104 preschool-aged boys with autism spectrum disorder (ASD). The boys were assigned to subgroups according to their level of language development (Low: no/low language, Middle: small vocabulary, High: large vocabulary and grammar), based on their raw scores on the expressive language (EL) and receptive language (RL) sections of the Mullen Scales of Early Learning (MSEL)...
March 16, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28295837/compromised-hippocampus-striatum-pathway-as-a-potential-imaging-biomarker-of-mild-traumatic-brain-injury-and-posttraumatic-stress-disorder
#14
D Rangaprakash, Gopikrishna Deshpande, Thomas A Daniel, Adam M Goodman, Jennifer L Robinson, Nouha Salibi, Jeffrey S Katz, Thomas S Denney, Michael N Dretsch
OBJECTIVES: Military service members risk acquiring posttraumatic stress disorder (PTSD) and mild-traumatic brain injury (mTBI), with high comorbidity. Owing to overlapping symptomatology in chronic mTBI or postconcussion syndrome (PCS) and PTSD, it is difficult to assess the etiology of a patient's condition without objective measures. Using resting-state functional MRI in a novel framework, we tested the hypothesis that their neural signatures are characterized by functionally hyperconnected brain regions which are less variable over time...
March 15, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28295280/structural-and-functional-connectivity-in-children-and-adolescents-with-and-without-attention-deficit-hyperactivity-disorder
#15
Dienke J Bos, Bob Oranje, Michelle Achterberg, Chantal Vlaskamp, Sara Ambrosino, Marcel A de Reus, Martijn P van den Heuvel, Serge A R B Rombouts, Sarah Durston
BACKGROUND: Attention deficit/hyperactivity disorder (ADHD) has frequently been associated with changes in resting-state functional connectivity, and decreased white matter (WM) integrity. In the current study, we investigated functional connectivity within Default Mode and frontal control resting-state networks (RSNs) in children with and without ADHD. We hypothesized the RSNs of interest would show a pattern of impaired functional integration and segregation and corresponding changes in WM structure...
March 10, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28294478/the-predictive-value-of-dorsal-cingulate-activity-and-fractional-anisotropy-on-long-term-ptsd-symptom-severity
#16
Mitzy Kennis PhD, Sanne J H van Rooij PhD, Alieke Reijnen MSc, Elbert Geuze PhD
BACKGROUND: Posttraumatic stress disorder (PTSD) can be treated with trauma-focused therapy, although only about 50% of the patients recover on the short-term. In order to improve response rates it is important to identify who will and will not recover from trauma-focused therapy. Although previous studies reported dorsal anterior cingulate cortex (ACC) activity, as well as dorsal cingulum bundle white matter microstructure integrity as markers for the persistence of PTSD symptoms on the short-term, it remains unclear whether these markers also predict long-term PTSD symptom severity...
March 15, 2017: Depression and Anxiety
https://www.readbyqxmd.com/read/28294462/disruption-of-white-matter-structural-integrity-and-connectivity-in-posttraumatic-stress-disorder-a-tbss-and-tractography-study
#17
Elizabeth A Olson, Jiaolong Cui, Rena Fukunaga, Lisa D Nickerson, Scott L Rauch, Isabelle M Rosso
BACKGROUND: Most studies of brain white matter (WM) in posttraumatic stress disorder (PTSD) have focused on combat trauma, and often were confounded by neurological and substance dependence comorbidity. This study used tract-based spatial statistics (TBSS) and probabilistic tractography to characterize WM microstructure in a mixed-sex community sample of PTSD patients exposed to diverse and multiple traumas, and in trauma-exposed normal comparison (TENC) subjects. METHODS: TBSS compared diffusion measures between 20 adults with DSM-IV PTSD and 17 TENC, using a whole-brain voxel-wise approach...
March 15, 2017: Depression and Anxiety
https://www.readbyqxmd.com/read/28293473/separating-generalized-anxiety-disorder-from-major-depression-using-clinical-hormonal-and-structural-mri-data-a-multimodal-machine-learning-study
#18
Kevin Hilbert, Ulrike Lueken, Markus Muehlhan, Katja Beesdo-Baum
BACKGROUND: Generalized anxiety disorder (GAD) is difficult to recognize and hard to separate from major depression (MD) in clinical settings. Biomarkers might support diagnostic decisions. This study used machine learning on multimodal biobehavioral data from a sample of GAD, MD and healthy subjects to differentiate subjects with a disorder from healthy subjects (case-classification) and to differentiate GAD from MD (disorder-classification). METHODS: Subjects with GAD (n = 19), MD without GAD (n = 14), and healthy comparison subjects (n = 24) were included...
March 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28291592/white-matter-and-cortical-changes-in-atypical-parkinsonisms-a-multimodal-quantitative-mr-study
#19
Stefano Zanigni, Stefania Evangelisti, Claudia Testa, David N Manners, Giovanna Calandra-Buonaura, Maria Guarino, Anna Gabellini, Laura Ludovica Gramegna, Giulia Giannini, Luisa Sambati, Pietro Cortelli, Raffaele Lodi, Caterina Tonon
OBJECTIVES: To evaluate white matter and cortical changes in patients with parkinsonisms and healthy controls (HC), applying both hypothesis-free and regions of interest (ROI)-based advanced brain MR analyses. METHODS: Twenty-five patients with Progressive Supranuclear Palsy - Richardson's Syndrome (PSP-RS), nine with cerebellar and nine with parkinsonian Multiple System Atrophy variants (MSA-C and MSA-P), forty-seven with Parkinson's Disease (PD) and twenty-seven HC underwent a 1...
March 6, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28291264/abnormal-white-matter-structural-connectivity-in-adults-with-obsessive-compulsive-disorder
#20
J Gan, M Zhong, J Fan, W Liu, C Niu, S Cai, L Zou, Ya Wang, Yi Wang, C Tan, R C K Chan, X Zhu
Obsessive-compulsive disorder (OCD) is a complex and severe psychiatric disorder whose pathogenesis is not fully understood. Recent studies have shown white matter (WM) alterations in adults with OCD, but the results have been inconsistent. The present study investigated WM structure in OCD patients with the hypothesis that large-scale brain networks may be disrupted in OCD. A total of 24 patients with OCD and 23 healthy controls (HCs) were scanned with diffusion tensor imaging. A tract-based spatial statistics (TBSS) approach was used to detect differences across the whole brain in patients with OCD vs HCs; post hoc fiber tractography was applied to characterize developmental differences between the two groups...
March 14, 2017: Translational Psychiatry
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