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Subcortical white matter abnormalities of the brain

Shouta Sugio, Koujiro Tohyama, Shinichiro Oku, Kanehiro Fujiyoshi, Takeshi Yoshimura, Keigo Hikishima, Ryutaro Yano, Takahiro Fukuda, Masaya Nakamura, Hideyuki Okano, Masahiko Watanabe, Masaki Fukata, Kazuhiro Ikenaka, Kenji F Tanaka
Astrocytes have recently been shown to provide physiological support for various brain functions, although little is known about their involvement in white matter integrity. Several inherited infantile-onset leukoencephalopathies, such as Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts (MLC), implicate astrocytic involvement in the formation of white matter. Several mouse models of MLC had been generated by knocking out the Mlc1 gene; however, none of those models was reported to show myelin abnormalities prior to formation of the myelin sheath...
October 17, 2016: Glia
Joe Bathelt, Duncan Astle, Jessica Barnes, F Lucy Raymond, Kate Baker
Childhood speech and language deficits are highly prevalent and are a common feature of neurodevelopmental disorders. However, it is difficult to investigate the underlying causal pathways because many diagnostic groups have a heterogeneous aetiology. Studying disorders with a shared genetic cause and shared cognitive deficits can provide crucial insight into the cellular mechanisms and neural systems that give rise to those impairments. The current study investigated structural brain differences of individuals with mutations in ZDHHC9, which is associated with a specific neurodevelopmental phenotype including prominent speech and language impairments and intellectual disability...
2016: NeuroImage: Clinical
Rodney J Anderson, Kate E Hoy, Zafiris J Daskalakis, Paul B Fitzgerald
Repetitive transcranial magnetic stimulation (rTMS) is a relatively recent addition to the neurostimulation armamentarium for treating individuals suffering from treatment refractory depression and has demonstrated efficacy in clinical trials. One of the proposed mechanisms of action underlying the therapeutic effects of rTMS for depression involves the modulation of depression-associated dysfunctional activity in distributed brain networks involving frontal cortical and subcortical limbic regions, via changes to aberrant functional and structural connectivity...
August 31, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Oriol Grau-Rivera, Anna Calvo, Núria Bargalló, Gemma C Monté, Carlos Nos, Albert Lladó, José Luis Molinuevo, Ellen Gelpi, Raquel Sánchez-Valle
BACKGROUND: Quantitative neuroimaging might unveil abnormalities in prion diseases that are not perceivable at visual inspection. On the other hand, scarce studies have quantified volumetric changes in prion diseases. OBJECTIVES: We aim to characterize volumetric and diffusion tensor imaging (DTI) changes in patients with prion diseases who presented with either Creutzfeldt-Jakob disease (CJD) or fatal insomnia (FI) phenotype. METHODS: Twenty patients with prion diseases- 15 with CJD and 5 with fatal insomnia (FI)- and 40 healthy controls were examined with a 3-Tesla magnetic resonance imaging scanner...
September 21, 2016: Journal of Alzheimer's Disease: JAD
B Mark Keegan, Timothy J Kaufmann, Brian G Weinshenker, Orhun H Kantarci, William F Schmalstieg, M Mateo Paz Soldan, Eoin P Flanagan
OBJECTIVE: To report patients with progressive motor impairment resulting from an isolated CNS demyelinating lesion in cerebral, brainstem, or spinal cord white matter that we call progressive solitary sclerosis. METHODS: Thirty patients were identified with (1) progressive motor impairment for over 1 year with a single radiologically identified CNS demyelinating lesion along corticospinal tracts, (2) absence of other demyelinating CNS lesions, and (3) no history of relapses affecting other CNS pathways...
October 18, 2016: Neurology
Nabi Zorlu, Maria Angelique Di Biase, Çiğdem Çolak Kalaycı, Andrew Zalesky, Başak Bağcı, Nihan Oğuz, Fazıl Gelal, Lütfullah Beşiroğlu, Şeref Gülseren, Aybala Sarıçiçek, Emre Bora, Christos Pantelis
Synthetic cannabinoids have become increasingly popular in the last few years especially among adolescents and young adults. However, no previous studies have assessed the effects of synthetic cannabinoids on the structure of the human brain. Understanding the harms of synthetic cannabinoid use on brain structure is therefore crucial given its increasing use. Diffusion tensor imaging (DTI) was performed in 22 patients who used synthetic cannabinoids more than five times a week for at least 1 year and 18 healthy controls...
September 8, 2016: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
Ju-Rong Ding, Xin Ding, Bo Hua, Xingzhong Xiong, Qingsong Wang, Huafu Chen
White matter lesions (WMLs) are frequently detected in elderly people. Previous structural and functional studies have demonstrated that WMLs are associated with cognitive and motor decline. However, the underlying mechanism of how WMLs lead to cognitive decline and motor disturbance remains unclear. We used functional connectivity density mapping (FCDM) to investigate changes in brain functional connectivity in 16 patients with ischemic WMLs and 13 controls. Both short- and long-range FCD maps were computed, and group comparisons were performed between the 2 groups...
September 2016: Medicine (Baltimore)
Qi-Yu Bo, Xiu-He Zhao, Xue Yang, Sheng-Jun Wang
Late onset postpartum eclampsia (LPE) is defined by its onset at >48 h after delivery. Reversible posterior encephalopathy syndrome (RPES) associated with LPE is uncommon, with the majority of RPES cases having a late postpartum onset within 4 weeks after childbirth. The present study reported the case of a 15-year old female presenting with convulsions that began 5 weeks after delivery. A magnetic resonance imaging scan of the brain revealed multiple lesions in the cortex, subcortical region and deep white matter of the bilateral cerebellum, and occipital, frontal and parietal lobes...
September 2016: Experimental and Therapeutic Medicine
Paul Klauser, Simon T Baker, Vanessa L Cropley, Chad Bousman, Alex Fornito, Luca Cocchi, Janice M Fullerton, Paul Rasser, Ulrich Schall, Frans Henskens, Patricia T Michie, Carmel Loughland, Stanley V Catts, Bryan Mowry, Thomas W Weickert, Cynthia Shannon Weickert, Vaughan Carr, Rhoshel Lenroot, Christos Pantelis, Andrew Zalesky
White matter abnormalities associated with schizophrenia have been widely reported, although the consistency of findings across studies is moderate. In this study, neuroimaging was used to investigate white matter pathology and its impact on whole-brain white matter connectivity in one of the largest samples of patients with schizophrenia. Fractional anisotropy (FA) and mean diffusivity (MD) were compared between patients with schizophrenia or schizoaffective disorder (n = 326) and age-matched healthy controls (n = 197)...
August 17, 2016: Schizophrenia Bulletin
Alexandra Badea, Lauren Kane, Robert J Anderson, Yi Qi, Mark Foster, Gary P Cofer, Neil Medvitz, Anne F Buckley, Andreas K Badea, William C Wetsel, Carol A Colton
Multivariate biomarkers are needed for detecting Alzheimer's disease (AD), understanding its etiology, and quantifying the effect of therapies. Mouse models provide opportunities to study characteristics of AD in well-controlled environments that can help facilitate development of early interventions. The CVN-AD mouse model replicates multiple AD hallmark pathologies, and we identified multivariate biomarkers characterizing a brain circuit disruption predictive of cognitive decline. In vivo and ex vivo magnetic resonance imaging (MRI) revealed that CVN-AD mice replicate the hippocampal atrophy (6%), characteristic of humans with AD, and also present changes in subcortical areas...
August 10, 2016: NeuroImage
Vanessa van der Linden, Epitacio Leite Rolim Filho, Otavio Gomes Lins, Ana van der Linden, Maria de Fátima Viana Vasco Aragão, Alessandra Mertens Brainer-Lima, Danielle Di Cavalcanti Sousa Cruz, Maria Angela Wanderley Rocha, Paula Fabiana Sobral da Silva, Maria Durce Costa Gomes Carvalho, Fernando José do Amaral, Joelma Arruda Gomes, Igor Colaço Ribeiro de Medeiros, Camila V Ventura, Regina Coeli Ramos
OBJECTIVE: To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. DESIGN: Retrospective case series study. SETTING: Association for Assistance of Disabled Children, Pernambuco state, Brazil. PARTICIPANTS: Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic...
2016: BMJ: British Medical Journal
Valentina Moro, Simone Pernigo, Manos Tsakiris, Renato Avesani, Nicola M J Edelstyn, Paul M Jenkinson, Aikaterini Fotopoulou
Anosognosia for hemiplegia (AHP) is informative about the neurocognitive basis of motor awareness. However, it is frequently associated with concomitant symptoms, such as hemispatial neglect and disturbances in the sense of body ownership (DSO). Although double dissociations between these symptoms have been reported, there is ongoing debate about whether they are manifestations of independent abnormalities, or a single neurocognitive deficit. We aimed to investigate the specificity of lesions associated with AHP by surpassing four, existing methodological limitations: (a) recruit a relatively large sample of patients (total N = 70) in a multi-centre study; (b) identify lesions associated with AHP in grey and white matter using voxel-based methods; (c) take into account the duration of AHP and concomitant neglect symptoms; and (d) compare lesions against a control hemiplegic group, patients suffering from AHP and DSO, and a few, rare patients with selective DSO...
October 2016: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
Sharmili Edwin Thanarajah, Cheol E Han, Anna Rotarska-Jagiela, Wolf Singer, Ralf Deichmann, Konrad Maurer, Marcus Kaiser, Peter J Uhlhaas
The graph theoretical analysis of structural magnetic resonance imaging (MRI) data has received a great deal of interest in recent years to characterize the organizational principles of brain networks and their alterations in psychiatric disorders, such as schizophrenia. However, the characterization of networks in clinical populations can be challenging, since the comparison of connectivity between groups is influenced by several factors, such as the overall number of connections and the structural abnormalities of the seed regions...
2016: Frontiers in Psychiatry
Jolien Gooijers, Iseult A M Beets, Genevieve Albouy, Kurt Beeckmans, Karla Michiels, Stefan Sunaert, Stephan P Swinnen
Years following the insult, patients with traumatic brain injury often experience persistent motor control problems, including bimanual coordination deficits. Previous studies revealed that such deficits are related to brain structural white and grey matter abnormalities. Here, we assessed, for the first time, cerebral functional activation patterns during bimanual movement preparation and performance in patients with traumatic brain injury, using functional magnetic resonance imaging. Eighteen patients with moderate-to-severe traumatic brain injury (10 females; aged 26...
September 2016: Brain: a Journal of Neurology
Hisham M Dahmoush, Elias R Melhem, Arastoo Vossough
Metabolic, endocrine, and genetic diseases of the brain include a very large array of disorders caused by a wide range of underlying abnormalities and involving a variety of brain structures. Often these disorders manifest as recognizable, though sometimes overlapping, patterns on neuroimaging studies that may enable a diagnosis based on imaging or may alternatively provide enough clues to direct further diagnostic evaluation. The diagnostic workup can include various biochemical laboratory or genetic studies...
2016: Handbook of Clinical Neurology
Pamela L Lutsey, Faye L Norby, Rebecca F Gottesman, Thomas Mosley, Richard F MacLehose, Naresh M Punjabi, Eyal Shahar, Clifford R Jack, Alvaro Alonso
BACKGROUND: A growing body of literature has suggested that obstructive sleep apnea (OSA) and habitual short sleep duration are linked to poor cognitive function. Neuroimaging studies may provide insight into this relation. OBJECTIVE: We tested the hypotheses that OSA and habitual short sleep duration, measured at ages 54-73 years, would be associated with adverse brain morphology at ages 67-89 years. METHODS: Included in this analysis are 312 ARIC study participants who underwent in-home overnight polysomnography in 1996-1998 and brain MRI scans about 15 years later (2012-2013)...
2016: PloS One
Armine Darbinyan, Eugene O Major, Susan Morgello, Steven Holland, Caroline Ryschkewitsch, Maria Chiara Monaco, Thomas P Naidich, Joshua Bederson, Joanna Malaczynska, Fei Ye, Ronald Gordon, Charlotte Cunningham-Rundles, Mary Fowkes, Nadejda M Tsankova
Human BK polyomavirus (BKV) is reactivated under conditions of immunosuppression leading most commonly to nephropathy or cystitis; its tropism for the brain is rare and poorly understood. We present a unique case of BKV-associated encephalopathy in a man with hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) due to IKK-gamma (NEMO) mutation, who developed progressive neurological symptoms. Brain biopsy demonstrated polyomavirus infection of gray and white matter, with predominant involvement of cortex and distinct neuronal tropism, in addition to limited demyelination and oligodendroglial inclusions...
2016: Acta Neuropathologica Communications
Chiao-Yun Chen, Adrian Raine, Kun-Hsien Chou, I-Yun Chen, Daisy Hung, Ching-Po Lin
BACKGROUND: Recent research has documented structural brain abnormalities in various criminal offenders. However, there have been few brain imaging studies of sex offenders, and none on white matter integrity. The current study tested the hypothesis that rapists, when compared to matched controls, would show abnormal cortical and subcortical white matter integrity. RESULTS: Rapists showed significantly increased fractional anisotropy in the internal capsul e in the thalamus, caudate, and globus pallidus, and also in white matter tracts near the angular gyrus, posterior cingulate, frontal pole, lateral occipital cortex, and genu compared to controls matched for age, gender, and educational status...
2016: BMC Neuroscience
Stefano Zanigni, Stefania Evangelisti, Maria Pia Giannoccaro, Federico Oppi, Roberto Poda, Antonio Giorgio, Claudia Testa, David Neil Manners, Patrizia Avoni, Laura Ludovica Gramegna, Nicola De Stefano, Raffaele Lodi, Caterina Tonon, Rocco Liguori
BACKGROUND: Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described. We aimed to evaluate in the brain of adult patients with DM1 (i) white and gray matter differences, including cortical-subcortical gray matter volume and cortical thickness and (ii) their correlation with clinical disability, global neuropsychological performance and triplet expansion. METHODS: We included 24 adult genetically-confirmed DM1 patients (14 males; age: 38...
2016: NeuroImage: Clinical
Sergio Cabrera, Kim Edelstein, Warren P Mason, Maria Carmela Tartaglia
BACKGROUND: Personality changes following brain tumors may be due to disruption of frontal-subcortical networks. The relation between personality changes and tumor parameters such as volumes of the surgical cavity, residual tumor, or nonspecific white matter abnormalities is unknown. In this study we examined the relation between these tumor parameters and abnormal behaviors typically associated with frontal lobe dysfunction. METHODS: Thirty-one patients with intracranial tumors who completed the Frontal Systems Behavior Scale (FrSBe) during clinical neuropsychological assessment and had a solitary, well-delimited brain lesion on MRI within 3 months of that assessment were included...
June 2016: Neuro-oncology Practice
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