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Hereditary Peripheral Neuropathies

Hereditary Peripheral Neuropathies
Author: G. Kuhlenbäumer
Publisher: Springer Science & Business Media
Total Pages: 278
Release: 2006-01-16
Genre: Medical
ISBN: 3798515867

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"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.


Hereditary Peripheral Neuropathies

Hereditary Peripheral Neuropathies
Author: Federica Miressi
Publisher:
Total Pages: 0
Release: 2020
Genre:
ISBN:

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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.


Handbook of Peripheral Neuropathy

Handbook of Peripheral Neuropathy
Author: Mark B. Bromberg
Publisher: CRC Press
Total Pages: 728
Release: 2005-08-12
Genre: Medical
ISBN: 9780824754327

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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.


Mitochondrial Neuropathies

Mitochondrial Neuropathies
Author:
Publisher: Academic Press
Total Pages: 252
Release: 2019-06-15
Genre: Medical
ISBN: 0128172258

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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


Sensory Neuropathies

Sensory Neuropathies
Author: Arthur K. Asbury
Publisher: Springer Science & Business Media
Total Pages: 228
Release: 2012-12-06
Genre: Medical
ISBN: 3709165954

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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.


Peripheral Neuropathy in Childhood

Peripheral Neuropathy in Childhood
Author: Robert A. Ouvrier
Publisher: Cambridge University Press
Total Pages: 350
Release: 1999-02-03
Genre: Medical
ISBN: 9781898683179

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A liberally illustrated and fully updated new edition of this very practical text.


Neuromuscular Disorders

Neuromuscular Disorders
Author: Satish V. Khadilkar
Publisher: Springer
Total Pages: 534
Release: 2017-12-28
Genre: Medical
ISBN: 9811053618

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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.


Textbook of Peripheral Neuropathy

Textbook of Peripheral Neuropathy
Author: Peter D. Donofrio, MD
Publisher: Demos Medical Publishing
Total Pages: 469
Release: 2012-04-17
Genre: Medical
ISBN: 1617050342

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Textbook of Peripheral Neuropathy is a practical but authoritative reference for clinicians in anymedical specialty who are evaluating and treating patients with signs and symptoms of a peripheralneuropathy. Reviewing the full spectrum of clinically significant neuropathies, the book contains chapterson common and rare forms including mononeuropathy in the upper and lower extremities, mononeuritismultiplex, diffuse and symmetric polyneuropathies, brachial and lumbrosacral plexopathies, and spinalroot disordersódisorders that can mimic diffuse and/or focal neuropathies, complicating diagnosis andevaluation. Coverage encompasses both inherited and acquired diseases, including neuropathies arisingfrom physical injury, diabetes, alcoholism, toxins, autoimmune responses, nutritional deficiencies, vascularand metabolic disorders, medication-induced neuropathies, and idiopathic conditions. The textbookprovides an evidence-based approach to testing, differential diagnosis, and treatment, and should serveas a trusted resource for healthcare professionals confronting the many manifestations of peripheralneuropathy in clinical practice. The chapters are written by internationally renowned expert contributors with deep clinical experienceand contain numerous tables, figures, and algorithms providing clear diagnostic and managementguidelines. Boxed Clinical Pearls and Key Points allow for quick access to pertinent information, making evaluation and review easy and rewarding. Features of Textbook of Peripheral Neuropathy Include: ̈ Practical yet comprehensiveóan accessible ìgo-toî reference for clinicians ̈ Covers all clinically relevant peripheral neuropathies ̈ Clinical Pearls and Key Points are set off from the text for quick reference ̈ Contains clear diagnostic and management guidelines from expert contributors ̈ Structured chapters make it easy to find essential point-of-careinformation


Peripheral Nerve Disorders

Peripheral Nerve Disorders
Author: Jean-Michel Vallat
Publisher: John Wiley & Sons
Total Pages: 318
Release: 2014-08-01
Genre: Medical
ISBN: 1118618416

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Peripheral Nerve Disorders: Pathology and Genetics is a definitive, clinically-oriented guide to the pathology of peripheral nerve disorders. These commonly seen neurological challenges have many causes and accurate diagnosis is often necessary via pathological analysis. New techniques exploiting molecular biological knowledge have opened up new vistas to understanding the pathogenesis of these disorders, and hence their effective management. This new title takes a disease-oriented approach to understanding the pathology of these conditions. It combines classical and contemporary techniques to enable practitioners in neurology and neuropathology to better understanding of the disease processes underlying patients’ presentations and to formulate appropriate management plans. Peripheral Nerve Disorders: Pathology and Genetics is a valuable resource for neurologists, neuropathologists, pathologists, neurobiologists and geneticists.