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Cortical visual impairment

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https://www.readbyqxmd.com/read/29439072/-because-my-brain-isn-t-as-active-as-it-should-be-my-eyes-don-t-always-see-a-qualitative-exploration-of-the-stress-process-for-those-living-with-posterior-cortical-atrophy
#1
Emma Harding, Mary Pat Sullivan, Rachel Woodbridge, Keir X X Yong, Anne McIntyre, Mary L Gilhooly, Kenneth J Gilhooly, Sebastian J Crutch
OBJECTIVES: To explore the stress process for individuals living with posterior cortical atrophy (PCA) and their families. DESIGN: A qualitative study using in-depth semi-structured dyadic and individual interviews with people living with a diagnosis of PCA and a family carer. Interview transcripts were thematically analysed. SETTING: Participants' homes. PARTICIPANTS: 20 individuals in the mild to moderate stages of PCA and 20 family carers...
February 8, 2018: BMJ Open
https://www.readbyqxmd.com/read/29437810/down-syndrome-with-posterior-cortical-atrophy
#2
Claire Boutoleau-Bretonnière, Amandine Pallardy
Down syndrome (DS) is caused by trisomy of chromosome 21. The average age of onset of Alzheimer's disease (AD) ranged from 50 to 55 years in DS, with early symptoms usually characterised by changes in behaviour and executive dysfunction. On the other hand, posterior cortical atrophy (PCA) is a rare neurodegenerative syndrome characterised by progressive impairment of visual functions in the absence of visual deficits and a pattern of atrophy involving posterior cortex. This syndrome is mostly caused by AD pathology...
February 8, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29423817/characterization-of-behavioral-signaling-and-cytokine-alterations-in-a-rat-neurodevelopmental-model-for-schizophrenia-and-their-reversal-by-the-5-ht6-receptor-antagonist-sb-399885
#3
Sinead E Shortall, Ola H Negm, Maxine Fowler, Lucy C Fairclough, Patrick J Tighe, Peter M Wigmore, Madeleine V King
Post-weaning social isolation of rats produces neuroanatomical, neurochemical and behavioral alterations resembling some core features of schizophrenia. This study examined the ability of the 5-HT6 receptor antagonist SB-399885 to reverse isolation-induced cognitive deficits, then investigated alterations in hippocampal cell proliferation and hippocampal and frontal cortical expression of selected intracellular signaling molecules and cytokines. Male Lister hooded rats (weaned on post-natal days 21-24 and housed individually or in groups of 3-4) received six i...
February 8, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29414284/relationship-between-social-cognition-and-traditional-cognitive-impairment-in-progressive-multiple-sclerosis-and-possible-implicated-neuroanatomical-regions
#4
E Ciampi, R Uribe-San-Martin, M Vásquez, A Ruiz-Tagle, T Labbe, J P Cruz, P Lillo, A Slachevsky, D Reyes, A Reyes, C Cárcamo-Rodríguez
BACKGROUND: Cognitive impairment is a relevant contributor of the medical and social burden in Progressive MS. Social Cognition, the neurocognitive processes underlying social interaction, has been explored mainly in European and North American cohorts, influencing social aspects of quality of life (QOL) of early MS patients and families. Few studies have studied Social Cognition in Progressive MS and the literature on its neuroanatomical bases or brain atrophy measurements is still scarce...
January 25, 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29395664/rett-like-features-and-cortical-visual-impairment-in-a-japanese-patient-with-hecw2-mutation
#5
Haruhiko Nakamura, Mitsugu Uematsu, Yurika Numata-Uematsu, Yu Abe, Wakaba Endo, Atsuo Kikuchi, Yusuke Takezawa, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Tetsuya Niihori, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kure
Numerous genetic syndromes that include intellectual disability (ID) have been reported. Recently, HECW2 mutations were detected in patients with ID and growth development disorders. Four de novo missense mutations have been reported. Here, we report a Japanese girl with Rett-like symptoms of severe ID, hypotonia, refractory epilepsy, and stereotypical hand movement (hand tapping, flapping, and wringing) after the age of 1 year. Characteristically, she had cortical visual impairment. She had difficulty swallowing since the age of 4 years, and diminished activity was noticeable since the age of 12 years, suggesting neurodevelopmental regression...
January 26, 2018: Brain & Development
https://www.readbyqxmd.com/read/29380776/a-pilot-study-regarding-basic-knowledge-of-cortical-visual-impairment-in-children-among-ophthalmologists
#6
Amit Maitreya, Darshika Rawat, Shubham Pandey
PURPOSE: A pilot study was done to evaluate knowledge regarding "cortical visual impairment (CVI) in children" among ophthalmologists. METHODS: This study was conducted during the annual conference of a zonal ophthalmological society. All ophthalmologists who attended the conference were requested to participate in this study. Those who agreed were given a validated questionnaire to assess knowledge regarding CVI. Cronbach's alpha of the questionnaire was 0.6. Participants were asked to respond to multiple choice questions by choosing the single best option...
February 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29380120/altered-white-matter-development-in-children-born-very-preterm
#7
Julia M Young, Marlee M Vandewouw, Benjamin R Morgan, Mary Lou Smith, John G Sled, Margot J Taylor
Children born very preterm (VPT) at less than 32 weeks' gestational age (GA) are prone to disrupted white matter maturation and impaired cognitive development. The aims of the present study were to identify differences in white matter microstructure and connectivity of children born VPT compared to term-born children, as well as relations between white matter measures with cognitive outcomes and early brain injury. Diffusion images and T1-weighted anatomical MR images were acquired along with developmental assessments in 31 VPT children (mean GA: 28...
January 29, 2018: Brain Structure & Function
https://www.readbyqxmd.com/read/29375013/comparison-of-visual-and-auditory-emotion-recognition-in-patients-with-cerebellar-and-parkinson%C3%A2-s-disease
#8
Michael Adamaszek, Federico D'Agata, Christopher J Steele, Bernhard Sehm, Cornelia Schoppe, Karl Strecker, Hartwig Woldag, Horst Hummelsheim, Ken C Kirkby
Introduction Research indicates that widespread cortical-subcortical networks are involved in the recognition and discrimination of emotional contents of facial and vocal expression. The cerebellum and basal ganglia are two subcortical regions implicated in these networks but evidence as to their specific contributions is limited. To investigate this we compared patients with circumscribed cerebellar lesions and patients with Parkinson's disease (PD) on a range of neuropsychological measures, we studied subjects of both clinical entities by an approved test battery...
January 29, 2018: Social Neuroscience
https://www.readbyqxmd.com/read/29365063/de-novo-mutations-in-grin1-cause-extensive-bilateral-polymicrogyria
#9
Andrew E Fry, Katherine A Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A N Thompson, Lilach Shemer-Meiri, Thomas D Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo-Kyung Chung, Mark I Rees, Chirag V Patel, Louise A Brueton, Valérie Layet, Fabienne Giuliano, Michael P Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman-Sagie, Katherine L Helbig, Laura H Kofman, Kristin M Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A Swanger, Gil H Shaulsky, Ghayda M Mirzaa, Alison M Muir, Heather C Mefford, William B Dobyns, Amanda B Mackenzie, Jonathan G L Mullins, Johannes R Lemke, Nadia Bahi-Buisson, Stephen F Traynelis, Heledd F Iago, Daniela T Pilz
Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1 mutations in additional cortical malformation patients. Shared features in the patients were extensive bilateral polymicrogyria associated with severe developmental delay, postnatal microcephaly, cortical visual impairment and intractable epilepsy...
January 22, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29357982/altered-gradients-of-glutamate-and-gamma-aminobutyric-acid-transcripts-in-the-cortical-visuospatial-working-memory-network-in-schizophrenia
#10
Gil D Hoftman, Samuel J Dienel, Holly H Bazmi, Yun Zhang, Kehui Chen, David A Lewis
BACKGROUND: Visuospatial working memory (vsWM), which is impaired in schizophrenia, requires information transfer across multiple nodes in the cerebral cortex, including visual, posterior parietal, and dorsolateral prefrontal regions. Information is conveyed across these regions via the excitatory projections of glutamatergic pyramidal neurons located in layer 3, whose activity is modulated by local inhibitory gamma-aminobutyric acidergic (GABAergic) neurons. Key properties of these neurons differ across these cortical regions...
December 7, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29355798/awake-surgery-for-gliomas-within-the-right-inferior-parietal-lobule-new-insights-into-the-functional-connectivity-gained-from-stimulation-mapping-and-surgical-implications
#11
Alice Rolland, Guillaume Herbet, Hugues Duffau
OBJECTIVE: Little is known about the functional role of the white matter connections running within and around the right inferior parietal lobule (IPL). We used direct electrostimulation during awake surgery to investigate this connectivity and to avoid permanent deficit following resection for right IPL gliomas. METHODS: We reviewed patients who underwent awake mapping for a glioma involving the right IPL. Resection was achieved up to functional cortico-subcortical boundaries detected by electrostimulation...
January 16, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29343804/compound-heterozygous-spata5-variants-in-four-families-and-functional-studies-of-spata5-deficiency
#12
Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J Rodenburg, Dzhamilja Safiulina, Tim M Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B Haack, Katrin Õunap
Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial function and brain developmental processes. However no functional studies have been performed. This study describes five patients with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29331846/functional-neuroimaging-in-rasmussen-syndrome
#13
Ichiro Kuki, Kazumi Matsuda, Yuko Kubota, Tetsuhiro Fukuyama, Yukitoshi Takahashi, Yushi Inoue, Haruo Shintaku
PURPOSE: For a diagnosis of Rasmussen syndrome (RS), clinical course together with electroencephalography (EEG) and magnetic resonance imaging (MRI) findings are considered important, but there are few reports on functional neuroimaging. This study investigated cerebral blood flow (CBF)-single photon emission computed tomography (SPECT), central benzodiazepine receptor (BZR)-SPECT, and fluorine-18 fluorodeoxy glucose-positron emission tomography (FDG-PET) in RS patients, and correlated neuroimaging results with MRI and pathological findings...
January 5, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29322009/improvement-of-spatial-learning-and-memory-cortical-gyrification-patterns-and-brain-oxidative-stress-markers-in-diabetic-rats-treated-with-ficus-deltoidea-leaf-extract-and-vitexin
#14
S Nurdiana, Y M Goh, A Hafandi, S M Dom, A Nur Syimal'ain, N M Noor Syaffinaz, M Ebrahimi
Despite the fact that Ficus deltoidea and vitexin played important roles in controlling hyperglycemia, an effective mitigation strategy dealing with cognitive deficit observed in diabetes, little is known about its neuroprotective effects. The study is aimed to determine changes in behavioral, gyrification patterns and brain oxidative stress markers in streptozotocin (STZ)-induced diabetic rats following F. deltoidea and vitexin treatments. Diabetic rats were treated orally with metformin, methanolic extract of F...
January 2018: Journal of Traditional and Complementary Medicine
https://www.readbyqxmd.com/read/29321584/the-critical-role-of-phase-difference-in-theta-oscillation-between-bilateral-parietal-cortices-for-visuospatial-working-memory
#15
Philip Tseng, Kai-Chi Iu, Chi-Hung Juan
Visual working memory (VWM) refers to people's ability to maintain and manipulate visual information on line. Its capacity varies between individuals, and neuroimaging studies have suggested a link between one's VWM capacity and theta power in the parietal cortex. However, it is unclear how the parietal cortices communicate with each other in order to support VWM processing. In two experiments we employed transcranial alternate current stimulation (tACS) to use frequency-specific (6 Hz) alternating current to modulate theta oscillation between the left and right parietal cortex with either in-phase (0° difference, Exp 1), anti-phase (180° difference, Exp 2), or sham sinusoidal current stimulation...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29309976/loss-of-subcortical-language-pathways-correlates-with-surgery-related-aphasia-in-brain-tumor-patients-an-investigation-via-rtms-based-dti-fiber-tracking
#16
Chiara Negwer, Eva Beurskens, Nico Sollmann, Stefanie Maurer, Sebastian Ille, Katrin Giglhuber, Jan S Kirschke, Florian Ringel, Bernhard Meyer, Sandro M Krieg
BACKGROUND: Within language function research there is a shift of focus from cortical specialization to a more hodotopical view including subcortical fiber tracts in functional and oncological considerations. Diffusion tensor imaging fiber tracking (DTI FT) is well established to visualize subcortical fiber tracts. Recently a new technique was developed using cortical regions mapped via repetitive navigated transcranial magnetic stimulation (rTMS) as seed regions. This study investigates if rTMS-based DTI FT for language pathways is also feasible postoperatively and whether pre- vs...
January 5, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29304099/functional-magnetic-resonance-imaging-reveals-differences-in-brain-activation-in-response-to-thermal-stimuli-in-diabetic-patients-with-and-without-diabetic-peripheral-neuropathy
#17
Juan Li, Wanying Zhang, Xia Wang, Tangmi Yuan, Peiyao Liu, Tao Wang, Le Shen, Yuguang Huang, Naishi Li, Hui You, Tixian Xiao, Feng Feng, Chao Ma
INTRODUCTION: Diabetes affects both the peripheral and central nervous systems. The aim of this study was to explore the changes in brain activity in response to thermal stimuli in diabetic patients with and without diabetic peripheral neuropathy (DPN) using functional magnetic resonance imaging (fMRI). METHODS: A total of 36 right-handed volunteers were enrolled: eight patients with Type-2 diabetes mellitus and DPN, 13 patients with Type-2 diabetes mellitus lacking DPN (NDPN patients), and 15 healthy volunteers (HV)...
2018: PloS One
https://www.readbyqxmd.com/read/29279860/cortical-neuroprosthesis-merges-visible-and-invisible-light-without-impairing-native-sensory-function
#18
Eric E Thomson, Ivan Zea, William Windham, Yohann Thenaisie, Cameron Walker, Jason Pedowitz, Wendy França, Ana L Graneiro, Miguel A L Nicolelis
Adult rats equipped with a sensory prosthesis, which transduced infrared (IR) signals into electrical signals delivered to somatosensory cortex (S1), took approximately 4 d to learn a four-choice IR discrimination task. Here, we show that when such IR signals are projected to the primary visual cortex (V1), rats that are pretrained in a visual-discrimination task typically learn the same IR discrimination task on their first day of training. However, without prior training on a visual discrimination task, the learning rates for S1- and V1-implanted animals converged, suggesting there is no intrinsic difference in learning rate between the two areas...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29278715/accumulation-of-beta-synuclein-in-cortical-neurons-is-associated-with-autophagy-attenuation-in-the-brains-of-dementia-with-lewy-body-patients
#19
Tracey Evans, Wai Ling Kok, Katrina Cowan, Megan Hefford, Oleg Anichtchik
Dementia with Lewy bodies (DLB) is the second most prevalent neurodegenerative dementia, where an accumulation of aggregated fibrillar alpha-synuclein in neurons of limbic and forebrain regions of the brain leads to visual hallucination, cognitive impairment of a fluctuating nature and extrapyramidal motor disturbances. Beta-synuclein counteracts aggregation of alpha-synuclein in vitro and in animal models, however it is not clear whether this effect occurs in human Lewy body dementia (LBD) diseases. Here we examine expression of alpha-, beta-synuclein and autophagy markers in the frontal cortex (BA9) and occipital cortex (BA18-19) of patients with neuropathologically confirmed DLB/LBD and age-matched controls...
December 23, 2017: Brain Research
https://www.readbyqxmd.com/read/29258410/different-cortical-source-activation-patterns-in-children-with-attention-deficit-hyperactivity-disorder-during-a-time-reproduction-task
#20
Shiva Khoshnoud, Mousa Shamsi, Mohammad Ali Nazari, Scott Makeig
Several neurocognitive studies have indicated that children with attention-deficit/hyperactivity disorder (ADHD) exhibit cognitive deficits in perceptual timing functions; however, only a few electroencephalographic studies have investigated their time reproduction abilities. In the present research, 15 children with ADHD were studied along with 19 age-matched control subjects (aged 7-11 years) as they attempted to reproduce shorter (1000 ms) and longer (2200 ms) time intervals. Trial-mean event-related potential (ERP) and event-related spectral perturbation measures were used to compare the electroencephalography (EEG) source-level activity patterns of the ADHD and control subjects during the time-encoding and reproduction phases...
December 19, 2017: Journal of Clinical and Experimental Neuropsychology
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