Neurogenetics : scientific and clinical advances /: scientific and clinical advances. (2006)

• Record Type: Book
• Further Information: Note: Edited by David R. Lynch ; associate editor Jennifer M. Farmer.
• Other Names: Lynch, David R (David Robinson)
• Contents: Front cover; Foreword; Preface; Contents; Contributors; 1 Neurogenetics in the Clinic; FACTORS SUGGESTING A NEUROGENETIC DISORDER; NEUROGENETIC DISEASES ''HIDING'' IN NONSPECIFIC CATEGORIES; IMPORTANCE OF FAMILY HISTORY; ASSESSMENT OF SPORADIC CASES; GENETIC COUNSELING; GENETIC TESTING; NEUROGENETICS INFORMATION RESOURCES; AN INTEGRATED CLINICAL NEUROGENETICS STRATEGY; REFERENCES; 2 Genetic Testing for Neurological Disorders; INTRODUCTION; PRINCIPLES OF GENETIC INHERITANCE; Reduced Penetrance, Variable Expressivity, Manifesting Carriers; Splitting. GENOTYPE CHANGES AND THEIR SIGNIFICANCE IN PHENOTYPIC APPEARANCEGENE MUTATIONS AND ASSAYS TO DETECT THEM; CLINICAL USE OF GENE TESTS; Diagnostic Genetic Testing; Predictive Testing; Prenatal and Preimplantation Testing; Carrier Testing; RESOURCES FOR THE CLINICIAN; REFERENCES; 3 Genetic Counseling; INTRODUCTION; ARE GENETIC DISORDERS UNIQUE?; WHO ARE GENETIC COUNSELORS?; THE PROCESS OF GENETIC COUNSELING; GENETIC FAMILY HISTORY-THE PEDIGREE; PEDIGREE ANALYSIS AND RISK PERCEPTION; SUMMARY; REFERENCES; 4 Gene Therapy for Inherited Diseases of the Central Nervous System; INTRODUCTION. GENERAL PROPERTIES OF CNS GENE THERAPYCANDIDATE DISEASES FOR GENE THERAPY IN THE CNS; Autosomal Recessive Mutations of Cytoplasmic or Nuclear Proteins; Dominant Negative Mutations; Autosomal Recessive Mutations Causing Accumulation of Diffusible Toxins; Lysosomal Storage Disease; Disease Severity, Diagnosis, and Age of Treatment Initiation; ANIMAL MODELS OF GENETIC CNS DISORDERS; LYSOSOMAL STORAGE DISEASE: ANIMAL MODELS AS A PARADIGM FOR CNS GENE THERAPY; GENE DELIVERY VEHICLES; Liposomal Delivery Systems; Viral Delivery Systems; Ex Vivo Methods in Gene Therapy; SUMMARY; ACKNOWLEDGMENTS. TESTING A BLOOD SAMPLE FROM SOMEONE WHO HAS JUST COMMITTED SUICIDETESTING A PREGNANCY; GIVING INFORMED CONSENT FOR INDIVIDUALS WITH COGNITIVE/PSYCHIATRIC IMPAIRMENT; INSURANCE ISSUES; ANONYMOUS TESTING; LEGAL CASES; RESOURCES; SUMMARY; RECOMMENDED READING; REFERENCES; 6 Autosomal Dominant Charcot-Marie-Tooth Disease and Related Disorders; SCOPE OF THIS CHAPTER; CMT: BACKGROUND AND GENERAL CLINICAL FEATURES; ELECTROPHYSIOLOGICAL CLASSIFICATION OF CMT; MAJOR FORMS OF DEMYELINATING CMT1 Genetics of CMT1; CMT1: Etiology and Pathogenesis; CMT1A: The Peripheral Myelin Protein-22 Gene.
• Publisher Details: New York : Taylor & Francis
• Publication Date: 2006
• Extent: 1 online resource (xxi, 755 pages), illustrations
• Subjects: 616.8/0442; Nervous system -- Diseases -- Genetic aspects; Neurogenetics; Nervous System Diseases -- genetics; Genetics, Medical; Nervous system diseases -- Genetics; HEALTH & FITNESS -- Diseases -- Nervous System (incl. Brain); MEDICAL -- Neurology; Nervous system -- Diseases -- Genetic aspects; Neurogenetics; Online resources
• Languages: English
• ISBNs: 0849358361; 9780849358364; 9780824729424; 0824729420
• Related ISBNs: 0824729420
• Notes: Note: Includes bibliographical references and index.; Note: Print version record.
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.