http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
1 online resource (xix, 425 pages) : illustrations (some color)
Apply the expertise of today's leading authorities - all from the forefront of research and clinical practice! This volume in the Blue Books of Neurology series provides rapid access to essential information on the clinical features, differential diagnosis, genetic testing, and management of a broad group of spinocerebellar degenerative disorders, including ataxias and spastic paraplegias. It delivers the guidance you need to accurately diagnose and manage your patients' conditions using today's most effective methods! Presents a current understanding of the normal and pathological functioning of the genes responsible for ataxias and spastic paraplegias. Offers current, incisive guidance on the differential diagnosis of disorders within this group - as well as from other types of neurologic disease. Discusses today's best management approaches for both hereditary and acquired spinocerebellar degenerations.
SPINOCEREBELLAR DEGENERATIONS -- 1Cerebellum and Spinal Cord -- Principles of Development, Anatomical Organization, and Functional Relevance, Jeremy D. Schmahmann -- Ataxias -- 2Acquired Cerebellar Ataxias and Differential Diagnosis, Thomas Klockgether -- 3Multiple System Atrophy, Christoph Globas, Felix Geser, Gregor Wenning, and Ludger Sch̲ls -- Autosomal Dominant -- 4Clinical and Genetic Aspects of Spinocerebellar Ataxias with emphasis on Polyglutamine Expansions, Giovanni Stevanin, Alexandra Durr, and Alexis Brice -- 5 Polyglutamine Ataxias: In Vitro and In Vivo Models, Stefan-M. Pulst and Henry Paulson -- 6Mechanisms underlying Non-Coding Repeat Expansions, Katherine A. Dick, John W. Day, and Laura P.W. Ranum -- Autosomal Recessive -- 7Friedreich Ataxia, Massimo Pandolfo -- 8Ataxia-Telangiectasia, Thomas O. Crawford and Yosef Shiloh -- 9Hereditary Ataxias and Spastic Parapareses in Northeastern Canada, Nicolas Dupř, Bernard Brais, Guy A. Rouleau, and Jean-Pierre Bouchard -- 10Recessive Ataxia plus Oculomotor Apraxia Syndromes, Michel Koenig and Maria-Ceu Moreira -- 11Metabolic Causes of Ataxia, Anthony H.V. Schapira -- 12Other Autosomal Recessive Ataxias, Giuseppe De Michele and Alessandro Filla -- Spastic Paraplegias -- 13Differential Diagnosis of Acquired causes of Spastic Paraplegia, Bertrand Fontaine -- 14SPG4, the most frequent Hereditary Spastic Paraplegia: Clinical and Genetic Aspects -- Christel Depienne, Alexis Brice, and Alexandra Durr -- 15Autosomal Dominant Spastic Paraplegia: Loci/Genes other than SPG4 (spastin), Evan Reid -- 16Overview on Hereditary Spastic Paraplegias, Još Leal Loureiro and Paula Coutinho -- 17X-linked Spastic Paraplegia, James Garbern -- 18Genetic Testing for Hereditary Ataxia and Hereditary Spastic Paraplegia, Martha A. Nance -- 19Recessive Spastic Paraplegias, Paula Coutinho and Još Leal Loureiro.
edited by Alexis Brice, Stefan-M. Pulst.
Includes bibliographical references and index.
Philadephia, PA : Butterworth-Heinemann/Elsevier, ©2007
104852:104878 Elsevier Science & Technology