Download or read book Screening for Mutations in the Genes VCP and KIAA0196 in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis written by Katharina Timmer and published by . This book was released on 2016 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Multifaceted Genes in Amyotrophic Lateral Sclerosis Frontotemporal Dementia written by Henry Houlden and published by Frontiers Media SA. This book was released on 2021-06-28 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias written by Michael J. Strong and published by OUP Oxford. This book was released on 2012-10-11 with total page 426 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past ten years, there has been an increasing recognition that syndromes of frontotemporal dysfunction (FTD) are a common occurrence in patients with amyotrophic lateral sclerosis (ALS). Such syndromes may be present in as many as 60% of patients with ALS. Conversely, the occurrence of motor neuron dysfunction in patients with clinically pure frontotemporal dementia is increasingly recognized. This suggests that to some extent there are overlapping syndromes in which both ALS and FTD occur within the same individual. This volume summarizes the advances in our understanding of these two disorders, as well as the potential relationship between the two. Key topics include advances in our ability to clinically describe the frontotemporal syndromes, preclinical detection, neuroimaging, and genetics. The exploding field of new markers in neuropathology is examined, as is the role of new genetic mutations in DNA/RNA transport systems. This book is the essential reference text for this topic, and will be of interest to neurologists and neurological trainees with a clinical or research interest in the FTDs or ALS, neuropsychologists, neuropathologists, and researchers.
Download or read book THE GENETIC BASIS OF FRONTOTEMPORAL DEMENTIA AMYOTROPHIC LATERAL SCLEROSIS AND CYSTIC FIBROSIS written by Frederico Simu00f5es Couto and published by . This book was released on 2017 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Objectives:Non-systematic literature review on the eventual relationship between frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS) and cystic fibrosis (CF).Background:The literature suggests that FTD and ALS share a common genetic background. A positive family history is present in about 30% of patients with FTD and in 5% of those with ALS.The authors report and discuss the clinical case of a 59-years-old male patient diagnosed with a behavior variant of FTD and ALS, who have a family history of dementia of unknown etiology in his mother and CF diagnosed in his daughter.Materials and Methods:The research strategy on the Pubmed database considered the keywords u201cfrontotemporal dementiau201d, u201camyotrophic lateral sclerosisu201d and u201ccystic fibrosisu201d. The selection of the articles was based on critical appraisal of the literature published between 2014 and 2019. Results and Conclusions:The most common genetic findings in patients with DFT and ALS are in C9ORF72 gene, and less frequently in the TARDBP and FUS/TLS genes. Although the relation between DFT with ALS and CF is not described, some authors suggest a common pathway between ALS and CF through the presence of modifications on TDP-43 protein that is encoded by the mutated TARDBP gene. Interestingly, the genetic study performed did not reveal any mutation in the studied genes, including the TARDBP one.Not all genetic findings involved in FTD, ALS and CF are identified and the relationship between those entities should be clarified. To the best of our knowledge, this is the first clinical case that considers this eventual genetic association.
Download or read book RNA Dysregulation in Models of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis written by Jack Humphrey and published by . This book was released on 2019 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal dementia (FTD) are two rare but devastating neurodegenerative diseases that share pathological features and genetic factors. A central question in both diseases is the role of the RNA-binding proteins transactive response DNA-binding protein 43kDa (TDP-43) and fused in sarcoma (FUS). These proteins play a vital role in RNA regulation in all cells but in diseased neurons they alter their cellular localisation to form potentially pathogenic aggregates. This process can be linked to rare genetic mutations in the TARDBP and FUS genes, although most cases of ALS and FTD have no known genetic cause. My work uses the revolutionary technology of RNA sequencing to measure and compare gene expression and RNA splicing in different cellular and animal models of sporadic and genetic disease. Here I present the results of four studies that investigate the biology of TDP-43 and FUS, assessing both their normal cellular roles and the impact of rare disease-causing mutations. In these projects I analyse RNA sequencing data to discover novel gene expression and RNA splicing phenomena. This includes the repression of cryptic splicing by TDP-43 but not FUS, the progressive downregulation of mitochondrial and ribosomal transcripts in a mouse model of FUS ALS, a gain of splicing function by TDP-43 mutations affecting constitutive exon splicing, and widespread changes in intron retention caused by FUS knockout or aggressive FUS mutations. I also discover a novel mechanism for how FUS might regulate its own translation. This work expands on what is currently known about the roles in RNA regulation for TDP- 43 and FUS and provides new avenues for understanding both the causes and progression of ALS and FTD.
Download or read book Disorders of Movement written by Davide Martino and published by Springer. This book was released on 2015-12-17 with total page 458 pages. Available in PDF, EPUB and Kindle. Book excerpt: This concise but comprehensive book will help interested readers in the health care professions to navigate their way through the jungle of movement disorders, including the potentially complex differential diagnosis and management. The different disorders are discussed in individual sections that explain how to examine the patient and recognize the disorder from its basic phenomenology, how to confirm a diagnosis, how to distinguish a particular disorder from related conditions, and how to treat each disorder effectively. The book makes liberal use of diagrams, algorithms, tables, summary boxes, and illustrations to facilitate solution of clinical problems at the bedside and to solidify previously learned clinical and therapeutic concepts. It will be of interest to a broad audience of health professionals, scientists, and medical students.
Download or read book Human Motor Neuron Diseases written by Lewis P. Rowland and published by Lippincott Williams & Wilkins. This book was released on 1982 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Download or read book Rare Diseases Epidemiology Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 675 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.
Download or read book Brain written by and published by . This book was released on 1922 with total page 532 pages. Available in PDF, EPUB and Kindle. Book excerpt: Aimed at researchers and clinicians, this journal of neurology balances studies in neurological science with practical clinical articles.
Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
Download or read book Epigenetics and Metabolomics written by Paban K. Agrawala and published by Elsevier. This book was released on 2021-08-25 with total page 478 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics and Metabolomics, a new volume in the Translational Epigenetics series, offers a synthesized discussion of epigenetic control of metabolic activity, and systems-based approaches for better understanding these mechanisms. Over a dozen chapter authors provide an overview of epigenetics in translational medicine and metabolomics techniques, followed by analyses of epigenetic and metabolomic linkage mechanisms likely to result in effective identification of disease biomarkers, as well as new therapies targeting the removal of the inappropriate epigenetic alterations. Epigenetic interventions in cancer, brain damage, and neuroendocrine disease, among other disorders, are discussed in-depth, with an emphasis on exploring next steps for clinical translation and personalized healthcare. - Offers a synthesized discussion of epigenetic regulation of metabolic activity and systems-based approaches to power new research - Discusses epigenetic control of metabolic pathways and possible therapeutic targets for cancer, neurodegenerative, and neuroendocrine diseases, among others - Provides guidance in epigenomics and metabolomic research methodology
Download or read book Epigenetics in Psychiatry written by Jacob Peedicayil and published by Academic Press. This book was released on 2021-08-21 with total page 848 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. - Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease - Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins - Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery - Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) - Features chapter contributions from international leaders in the field
Download or read book Genetic Diagnosis of Endocrine Disorders written by Roy E. Weiss and published by Academic Press. This book was released on 2015-10-09 with total page 462 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. - Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases - Teaches the essentials of the genetic basis of disease in each major endocrine organ system - Offers expert advice from genetic counselors on how to use genetic information in counseling patients - Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
Download or read book Acute Encephalopathy and Encephalitis in Infancy and Its Related Disorders written by Hideo Yamanouchi and published by Elsevier Health Sciences. This book was released on 2017-10-21 with total page 259 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stay current with recent progress in the field of acute encephalopathy and encephalitis in infants with this practical resource by Drs. Hideo Yamanouchi, Solomon L. Moshé, and Akihisa Okumura. This practical resource covers key information relevant to physicians, surgeons, and nurses who often must take prompt action in the everyday clinical care of patients with these disorders. - Features a wealth of information for all health care professionals who encounter these complex conditions. - Covers diagnostic strategy, subtypes of acute encephalopathy, and management of acute encephalopathy and encephalitis. - Consolidates today's available information and guidance on acute encephalopathy and encephalitis in infancy, in addition to related disorders, into one convenient resource.
Download or read book Clinical Applications for Next Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. - Fills the gap between state-of-the-art technology and evidence-based practice - Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment - Promotes a practical tool that clinicians can apply directly to patient care - Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases - Presents evidence regarding the important role of NGS in current diagnostic strategies
Download or read book Cognitive Neurology written by and published by . This book was released on 2008 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: Many clinicians within neurology remain unaware of the significant advances that have taken place in the field of cognitive neuroscience in the last decades, and how these might affect clinical practice. This book provides an introduction to the cognitive and behavioral aspects of the clinical practice of neurology.
