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Author: G. Kuhlenbäumer
Publisher: Springer Science & Business Media
ISBN: 3798515867
Category : Medical
Languages : en
Pages : 278
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Book Description
"Hereditary Peripheral Neuropathies" deals with the Charcot-Marie-Tooth group of neuropathies and related primary hereditary neuropathies. The knowledge in this field has grown exponentially during the last ten years. The book is divided into two sections. The first section deals with the clinical presentation, electrophysiological features and differential diagnosis of these disorders as well as with the general biology of the peripheral nerve. The second section gives a detailed account of the known disease entities. The book will be interesting for both the clinician with a special interest in PNS diseases as well as for the researcher.
Author: G. Kuhlenbäumer
Publisher: Springer Science & Business Media
ISBN: 3798515867
Category : Medical
Languages : en
Pages : 278
Get Book Here
Book Description
"Hereditary Peripheral Neuropathies" deals with the Charcot-Marie-Tooth group of neuropathies and related primary hereditary neuropathies. The knowledge in this field has grown exponentially during the last ten years. The book is divided into two sections. The first section deals with the clinical presentation, electrophysiological features and differential diagnosis of these disorders as well as with the general biology of the peripheral nerve. The second section gives a detailed account of the known disease entities. The book will be interesting for both the clinician with a special interest in PNS diseases as well as for the researcher.
Author:
Publisher:
ISBN:
Category :
Languages : en
Pages : 0
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Book Description
Author: Sinéad M. Murphy
Publisher: Elsevier Inc. Chapters
ISBN: 012807843X
Category : Medical
Languages : en
Pages : 32
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Book Description
The inherited neuropathies are a clinically and genetically heterogeneous group of disorders in which there have been rapid advances in the last two decades. Molecular genetic testing is now an integral part of the evaluation of patients with inherited neuropathies. In this chapter we describe the genes responsible for the primary inherited neuropathies. We briefly discuss the clinical phenotype of each of the known inherited neuropathy subgroups, describe algorithms for molecular genetic testing of affected patients and discuss genetic counseling. The basic principles of careful phenotyping, documenting an accurate family history, and testing the available genes in an appropriate manner should identify the vast majority of individuals with CMT1 and many of those with CMT2. In this chapter we also describe the current methods of genetic testing. As advances are made in molecular genetic technologies and improvements are made in bioinformatics, it is likely that the current time-consuming methods of DNA sequencing will give way to quicker and more efficient high-throughput methods, which are briefly discussed here.
Author: Mark B. Bromberg
Publisher: CRC Press
ISBN: 9780824754327
Category : Medical
Languages : en
Pages : 728
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Book Description
Providing a detailed study of the anatomy, physiology, and pathology of peripheral nerves, this reference provides a clear approach to the evaluation, characterization, and treatment of peripheral neuropathies-reviewing each major class of these disorders with authoritative discussions of clinical characteristics, electrodiagnostic features, examination findings, and treatment options and outcomes.
Author: Federica Miressi
Publisher:
ISBN:
Category :
Languages : en
Pages : 0
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Book Description
Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. To date, more than 80 genes have been identified to be involved in CMT, but genetic diagnosis is achieved only in 30-40% of cases. This study presented two main objectives: first, we focused on CMT and associated peripheral neuropathies using molecular and bioinformatic approaches to optimize their genetic characterization ; secondly, we investigated impaired mechanisms in an axonal CMT form, by creating a human cellular model of human induced pluripotency stem cells (hiPSC) and their differentiation into motor neurons (MN).In the first part of the project, we developed a new bioinformatic tool, CovCopCan, to detect Copy Number Variations (CNV), starting from NGS data. Thanks to CovCopCan, two new CNV have been identified and we discuss their involvement in two complex cases of peripheral neuropathy. We also identified three genetic variations in a CMT patient highlighting that CMT can be a multilocus genetic pathology. In the second part of the project, we successfully generated a cellular model of MN for the study of GDAP1 gene and its associated CMT2H form. We reprogrammed dermal fibroblasts of five control subjects and two CMT patients, carrying two different homozygous codon-stop mutations in GDAP1, into human inducedpluripotent stem cells (hiPSC). Then, we established a differentiation protocol to generate MN from hiPSC.MN with the GDAP1 p.Ser194* mutation were analyzed by expression, morphological, and functional tests. We confirmed the neural expression of GDAP1, and we suggested that oxidative stress and mitochondrial impairment could be responsible for the pathological condition in CMT2H MN. Taken together, our results highlighted that both genetic and functional analyses are essential in the complete characterization of CMT disease.
Author: Arthur K. Asbury
Publisher: Springer Science & Business Media
ISBN: 3709165954
Category : Medical
Languages : en
Pages : 228
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Book Description
While motor neuropathies and neuronopathies and mixed sensory-motor neuropathies have been met with adequate interest by clinical and basic researchers and physicians, pure sensory neuropathies and neuro nopathies have received comparably less attention, despite of the consider able morbidity they may cause in the individual patient. This prompted us to organize an International Symposium on Sensory Neuropathies which was held in Vienna, September 22-24,1990, as satellite to the International Neuromuscular Congress held one week earlier in Munich, Germany. We were fortunate to have a faculty of experienced authorities in the field as participants. This volume is the proceedings of the symposium. Due to factors which were beyond our control, publication of this volume was significantly delayed. Despite the enormous progress of biomedicine in recent years, most prominently in molecular biology, we feel that the contributions of this volume still represent a valuable reference for clinical, physiological, biochemical and pathomorphological studies on the sensory nervous system for which similarly comprehensive data are difficult to locate. November 1994 Arthur K Asbury Herbert Budka ElJriede Sluga Contents Contributors 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 IX 1.
Author: Emma Ciafaloni
Publisher: Oxford University Press
ISBN: 0190667354
Category : Medical
Languages : en
Pages : 417
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Book Description
For a woman of reproductive age, any medical appointment is a pre-conception visit and an opportunity to address pre-existing conditions that affect pregnancy and the maternal-fetal dyad. However, many neurologic conditions are rarely seen in pregnancy, and limited experience and knowledge may prevent the team from developing a shared approach to these complex conditions during pregnancy. Neurological Diseases and Pregnancy: A Coordinated Care Model for Best Management brings together experts across the disciplines of maternal fetal medicine, neurology, obstetrics, family planning, genetics, anesthesia, psychiatry, neurosurgery, and lactation to provide a multi-disciplinary, comprehensive, protocol-driven guide on best care for patients with neurologic disease before, during and after pregnancy. Each chapter provides a detailed care map on each unique disorder, and discusses the use of neurological medications during pregnancy and in lactation. Through this multi-disciplinary approach clinicians can navigate the complexities of preconception and pregnancy care, and help to optimize outcomes for the mother-infant dyad. Beyond pregnancy care, this volume further serves as a resource on best care for the life-course of women affected by neurologic disease including pre-pregnancy planning, genetic counseling, contraception, and sexuality in neurologic disease, as well as post-partum depression and menopausal neurologic changes.
Author:
Publisher: Academic Press
ISBN: 0128172258
Category : Medical
Languages : en
Pages : 252
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Book Description
Mitochondrial Neuropathies, Volume 146, brings together experts in a range of diseases that damage the nervous system to present the role of mitochondrial dysfunction in their particular field, with this new release focusing on Mitochondrial dysfunction in Alzheimer's Disease, HIV and the mitochondrial: immune interface in the CNS, The Impact of mitochondrial damage in HIV-induced peripheral neuropathy, Mitochondrial dysfunction and the pathogenesis of chemotherapy-induced peripheral neuropathy, Disorders of mitochondrial biogenesis in peripheral neuropathy, Mitochondrial dysfunction and the pathogenesis of diabetic neuropathy, Manipulating mitochondria to treat peripheral neuropathy, and DCA therapy - the yin and yang of mitochondrial activation. Contains contributions from a diverse group of experts Presents a timely resource that brings together different fields to highlight a common pathogenic mechanism Focuses on the role of mitochondria in diverse neuropathies
Author: Robert A. Ouvrier
Publisher: Cambridge University Press
ISBN: 9781898683179
Category : Medical
Languages : en
Pages : 350
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Book Description
A liberally illustrated and fully updated new edition of this very practical text.
Author: Satish V. Khadilkar
Publisher: Springer
ISBN: 9811053618
Category : Medical
Languages : en
Pages : 534
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Book Description
This book provides a concise overview of the diagnosis and therapy of a wide variety of neuromuscular disorders, in tabulated form and with illustrative cases. Treating neuromuscular disorders calls for a sound, step-by-step clinical approach based on differential diagnosis and laboratory investigations. Yet to date, there has been no single, compact book that offers all the relevant information related to the management of these disorders. This book fills that gap, presenting the state of the art in the field and addressing practical problems together with their solutions. Each chapter covers disorder characteristics, clinical differentiating points, relevant investigations and their interpretation, available genetic testing, best management approaches and counselling. Illustrative cases provide valuable insights, while extensive tables and illustrations mean that information can be rapidly found.
