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Ocular Motor and Vestibular Function in Neurometabolic, Neurogenetic, and Neurodegenerative Disorders

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889455638 Year: Pages: 247 DOI: 10.3389/978-2-88945-563-8 Language: English
Publisher: Frontiers Media SA
Subject: Medicine (General) --- Neurology
Added to DOAB on : 2019-01-23 14:53:43
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Eye movements provide rich source of information about brain functioning for neurologists and neuroscientists. They provide diagnostic clues, define, and localize motor and cognitive disorders. Objective eye movement assessments associated with clinical observation and genetic testing in neurodegenerative, neurometabolic, and neurogenetic diseases provide insight into their pathophysiology and disease mechanism. Finally the eye movements may be used for testing and following the response to therapies. The concrete value of studying eye movement stems from a number of advantages compared to the study of movements of axial or limb muscles.

The eye movements are accessible to clinical inspection, they can be measured precisely, their interpretation is clear and therefore ocular motility examination has high localization value. There are several standardized tasks to study of each subclass of eye movements that are recognized for motor or cognitive behavior. Indeed the studies of eye movement had allowed test of motor and cognitive functions of the brain in a vast range of neurological disease. Both cortical and subcortical dysfunctions may be detected with the analysis of subclasses of eye movements and interpreted in association with other clinical, laboratory and neuroimaging features.

The goal of this topic-focused volume of Frontiers in Neurology is to gather seminal studies, from well-known scientists and laboratories from across the world, delineating the features of eye movements and vestibular system in neurogenetic, neurometabolic, and neurodegenerative disorders. Such collection of articles, to our knowledge, is unique and never done in the past. The topics and the compilation will be of interest to broad groups of neuroscientists and neurologists for the reasons as follows:

1) Neurodegenerative diseases represent a large portion of neurological diseases encountered in neurological clinical practice. Eye movement changes may occur early in their course and may be specific, thus orienting the diagnosis.

2) Neurometabolic and neurogenetic conditions, although rare, show specific and characteristic eye movements that represent the hallmark of the disease. Such disorders often represent a pathologic model that helps to understand the normal functioning of specific brain regions and networks.

The enigma of Balint's syndrome: complexity of neural substrates and cognitive deficits

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889195992 Year: Pages: 130 DOI: 10.3389/978-2-88919-599-2 Language: English
Publisher: Frontiers Media SA
Subject: Neurology --- Science (General)
Added to DOAB on : 2016-03-10 08:14:32
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Bálint’s syndrome is named after the Hungarian physician who first reported a remarkable case of a man with complex visuospatial deficits following bilateral lesions within parietal and occipital cortex (Bálint, 1909). The syndrome has three primary symptoms: simultanagnosia (impaired spatial awareness of more than one object at time), optic ataxia (misreaching to visual targets) and ocular apraxia (described by Bálint as “psychic paralysis of gaze”). Balint’s patients not only cannot perceive more than one object at time and therefore show poor comprehension of multi-object visual scenes i.e. poor detection of all the objects present and difficulty in grasping the relationship between them; in addition they typically fail to reach towards location of the single object, which they can perceive. The deficit of the allocation of spatial attention in Balint’s syndrome has been linked to a problem in feature binding which results in illusory conjunctions. Patients with Balint’s syndrome also show deficits in global processing i.e. when integration of multiple local elements into global compound shapes is required. Consequently, Balint’s syndrome provides a unique opportunity to study the nature and neuroanatomy of human visuospatial processing, in particular multi-level object representation, spatial awareness and the distribution of visual attention. The studies collected here cover both the anatomical and the cognitive mechanisms of the different symptoms associated with the syndrome. Furthermore, the dissociations between the components of Bálints’ syndrome, in particular simultanagnosia and optic ataxia, can also co-occur with visual neglect and extinction and the different combinations of reported lesions raises a question about the status of the syndrome and whether it should be merely treated as a historical compilation of symptoms which may or may not coexist cohesively. This interesting argument is raised here.

Cell Stress, Metabolic Reprogramming, and Cancer

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889455652 Year: Pages: 68 DOI: 10.3389/978-2-88945-565-2 Language: English
Publisher: Frontiers Media SA
Subject: Medicine (General) --- Oncology
Added to DOAB on : 2019-01-23 14:53:43
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The present eBook presents one review, five mini-reviews, and an opinion article on the achievements and perspectives of studies on important aspects of cancer cell metabolic reprogramming whose mechanisms and regulation are still largely elusive. It also sheds light on certain novel functional components, which rewires cell metabolism in tumor transformation.

Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping

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ISBN: 9783039216109 / 9783039216116 Year: Pages: 94 DOI: 10.3390/books978-3-03921-611-6 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General) --- Neurology
Added to DOAB on : 2019-12-09 11:49:16
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The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.

Extraintestinal Manifestations of Coeliac Disease

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ISBN: 9783038977988 9783038977995 Year: Pages: 270 DOI: 10.3390/books978-3-03897-799-5 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Biology --- Nutrition and Food Sciences
Added to DOAB on : 2019-04-25 16:37:17
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Coeliac Disease (CD) affects at least 1% of the population. “Classical” CD refers to gastrointestinal presentations with anaemia and gastrointestinal symptoms. CD can, however, present with extraintestinal manifestations, the commonest of which are dermatitis herpetiformis and neurological presentations (e.g., ataxia, neuropathy, encephalopathy). Recognition and research into the pathophysiology of such manifestations is likely to enhance our understanding of this complex autoimmune disorder.

Keywords

dermatitis herpetiformis --- coeliac disease --- fracture --- bone health --- quality of life --- Gilles de la Tourette syndrome (GTS) --- children and adults --- motor and vocal/phonic tics --- obsessive-compulsive disorder (OCD) --- non-coeliac gluten sensitivity (NCGS) --- gluten-free diet --- one-year adherence --- dermatitis herpetiformis --- coeliac disease --- prevalence --- epidermal transglutaminase --- gluten-free diet --- long-term prognosis --- dermatitis herpetiformis --- coeliac disease --- gluten-free diet --- small bowel --- villous atrophy --- prognosis --- gluten neuropathy --- coeliac disease --- gluten free diet --- quality of life --- male --- extra-intestinal --- gastrointestinal --- celiac disease --- celiac disease --- dermatitis herpetiformis --- urticaria --- atopic dermatitis --- psoriasis --- recurrent aphtous ulceration --- rosacea --- alopecia areata --- cutaneous vasculitis --- gluten-free diet --- celiac disease --- glandular autoimmunity --- autoimmune thyroid disease --- type 1 diabetes --- polyglandular autoimmune syndrome --- coeliac disease --- osteoporosis --- fractures --- celiac disease --- non-celiac gluten sensitivity --- psychiatric disorders --- depression --- anxiety disorders --- eating disorders --- ADHD --- autism --- psychosis --- autoimmunity --- celiac hepatitis --- gut–liver axis --- liver immunity --- non-alcoholic fatty liver disease --- tolerance --- intestinal barrier --- celiac disease --- extraintestinal --- recognition --- diagnosis --- clinical presentation --- gluten-free diet --- prognosis --- movement disorders --- coeliac disease --- gluten --- gluten free diet --- celiac disease --- gluten --- gliadin --- autoantibody --- B cell --- T cell --- transglutaminase --- synapsin --- ganglioside --- gluten sensitivity --- gastrointestinal symptoms --- molecular mimicry --- intermolecular help --- biomarker --- autoimmune pancreatitis --- coeliac disease --- pancreatic disorders --- screening --- Gluten ataxia --- antigliadin antibodies --- coeliac disease --- MR spectroscopy --- gluten sensitive enteropathy --- antigliadin antibody titre --- gluten sensitivity --- coeliac disease --- gluten free diet --- migraine --- headache --- fatigue --- energy --- celiac disease --- extra-intestinal manifestations --- gluten --- latent celiac disease --- potential celiac disease --- extra-intestinal manifestations --- mild enteropathy --- early developing celiac disease --- genetic gluten intolerance --- natural history --- celiac trait --- celiac disease --- gluten neuropathy --- gluten ataxia --- prevalence --- incidence --- gluten-free diet

Towards Mechanism-based Treatments for Fragile X Syndrome

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ISBN: 9783039215058 / 9783039215065 Year: Pages: 250 DOI: 10.3390/books978-3-03921-506-5 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Biology
Added to DOAB on : 2019-12-09 11:49:15
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It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.

Keywords

fragile X syndrome --- clinical trials --- targeted treatments --- drug development --- fragile X syndrome --- clinical trials --- treatment development --- best practices --- fragile X syndrome --- newborn screening --- early identification --- fragile X syndrome --- X chromosome --- females --- FMR1 --- anxiety --- avoidance --- cognition --- behavior --- brain --- Fragile X --- FMRP --- Fxr2 --- Fmr1 --- fragile X syndrome --- executive function --- working memory --- set-shifting --- cognitive flexibility --- inhibitory control --- attention --- planning --- processing speed --- Fragile X syndrome 1 --- Fragile X-associated Tremor/Ataxia Syndrome 2 --- CRISPR 3 --- Trinucleotide Repeat 4 --- Gene editing --- fragile X syndrome --- FMR1 gene --- voice of the person --- voice of the patient --- characteristics that have the greatest impact --- developmental disorders --- fragile X syndrome --- language development --- automated vocal analysis --- adeno-associated virus --- autism spectrum disorders --- cerebral spinal fluid --- fragile X mental retardation protein --- neurodevelopmental disorders --- viral vector --- fragile X syndrome --- gene reactivation --- RNA:DNA hybrid --- FMRP --- histone methylation --- DNA methylation --- FMR1 --- PRC2 --- fragile X syndrome --- unstable repeat diseases --- epigenetic gene silencing --- DNA methylation --- repeat instability --- pluripotent stem cells --- CGG Repeat Expansion Disease --- DNA instability --- expansion --- contraction --- mismatch repair (MMR) --- base excision repair (BER) --- transcription coupled repair (TCR) --- double-strand break repair (DSBR) --- Non-homologous end-joining (NHEJ) --- mosaicism --- protein synthesis --- Fragile X Syndrome --- biomarker --- iPSC --- fibroblast --- lymphoblast --- fragile X syndrome --- molecular biomarkers --- FMR1 --- FMRP --- intellectual disability --- Fmr1 KO mouse --- ASD --- n/a

DNA Replication Stress

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ISBN: 9783039213894 / 9783039213900 Year: Pages: 368 DOI: 10.3390/books978-3-03921-390-0 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Biology
Added to DOAB on : 2019-12-09 16:10:12
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This Special Issue of International Journal of Molecular Sciences (IJMS) is dedicated to the mechanisms mediated at the molecular and cellular levels in response to adverse genomic perturbations and DNA replication stress. The relevant proteins and processes play paramount roles in nucleic acid transactions to maintain genomic stability and cellular homeostasis. A total of 18 articles are presented which encompass a broad range of highly relevant topics in genome biology. These include replication fork dynamics, DNA repair processes, DNA damage signaling and cell cycle control, cancer biology, epigenetics, cellular senescence, neurodegeneration, and aging. As Guest Editor for this IJMS Special Issue, I am very pleased to offer this collection of riveting articles centered on the theme of DNA replication stress. The blend of articles builds upon a theme that DNA damage has profound consequences for genomic stability and cellular homeostasis that affect tissue function, disease, cancer, and aging at multiple levels and through unique mechanisms. I thank the authors for their excellent contributions, which provide new insight into this fascinating and highly relevant area of genome biology.

Keywords

barley --- chromosome --- DNA replication pattern --- EdU --- mutagens --- DNA replication --- DNA damage --- DNA repair --- genome integrity --- A549 cells --- H1299 cells --- heterogeneity --- DNA damage response --- 8-chloro-adenosine --- DNA replication --- S phase --- origin firing --- TopBP1 --- ATR --- DNA fiber assay --- APE2 --- ATR-Chk1 DDR pathway --- Genome integrity --- SSB end resection --- SSB repair --- SSB signaling --- DNA replication stress --- genome stability --- ubiquitin --- replication fork restart --- translesion synthesis --- template-switching --- homologous recombination --- Fanconi Anemia --- G protein-coupled receptor (GPCR) --- aging --- DNA damage --- ?-arrestin --- G protein-coupled receptor kinase (GRK) --- interactome --- G protein-coupled receptor kinase interacting protein 2 (GIT2) --- ataxia telangiectasia mutated (ATM) --- clock proteins --- energy metabolism --- neurodegeneration --- cellular senescence --- ageing --- Alzheimer’s disease --- multiple sclerosis --- Parkinson’s disease --- lipofuscin --- SenTraGorTM (GL13) --- senolytics --- DNA replication --- DNA repair --- DNA damage response --- DNA translocation --- DNA helicase --- superfamily 2 ATPase --- replication restart --- fork reversal --- fork regression --- chromatin remodeler --- C9orf72 --- ALS --- motor neuron disease --- R loops, nucleolar stress --- neurodegeneration --- Difficult-to-Replicate Sequences --- replication stress --- non-B DNA --- Polymerase eta --- Polymerase kappa --- genome instability --- common fragile sites --- Microsatellites --- cancer --- DNA double-strand repair --- premature aging --- post-translational modification --- protein stability --- replication stress --- Werner Syndrome --- Werner Syndrome Protein --- dormant origins --- replicative stress --- replication timing --- DNA damage --- genome instability --- cancer --- Thermococcus eurythermalis --- endonuclease IV --- AP site analogue --- spacer --- DNA repair --- DNA repair --- double strand break repair --- exonuclease 1 --- EXO1 --- mismatch repair --- MMR --- NER --- nucleotide excision repair --- strand displacements --- TLS --- translesion DNA synthesis --- POL? --- mutation frequency --- mutations spectra --- SupF --- mutagenicity --- oxidative stress --- DNA damage --- DNA repair --- replication --- 8-oxoG --- epigenetic --- gene expression --- helicase --- cell cycle checkpoints --- genomic instability --- G2-arrest --- cell death --- repair of DNA damage --- adaptation --- n/a

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