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.
1 Cerebellum and Spinal Cord – Principles of Development, Anatomical Organization, and Functional Relevance, Jeremy D. Schmahmann
2 Acquired Cerebellar Ataxias and Differential Diagnosis, Thomas Klockgether
3 Multiple System Atrophy, Christoph Globas, Felix Geser, Gregor Wenning, and Ludger Schöls
4 Clinical 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
6 Mechanisms underlying Non-Coding Repeat Expansions, Katherine A. Dick, John W. Day, and Laura P.W. Ranum
7 Friedreich Ataxia, Massimo Pandolfo
8 Ataxia-Telangiectasia, Thomas O. Crawford and Yosef Shiloh
9 Hereditary Ataxias and Spastic Parapareses in Northeastern Canada, Nicolas Dupré, Bernard Brais, Guy A. Rouleau, and Jean-Pierre Bouchard
10 Recessive Ataxia plus Oculomotor Apraxia Syndromes, Michel Koenig and Maria-Ceu Moreira
11 Metabolic Causes of Ataxia, Anthony H.V. Schapira
12 Other Autosomal Recessive Ataxias, Giuseppe De Michele and Alessandro Filla Spastic Paraplegias
13 Differential Diagnosis of Acquired causes of Spastic Paraplegia, Bertrand Fontaine
14 SPG4, the most frequent Hereditary Spastic Paraplegia: Clinical and Genetic Aspects Christel Depienne, Alexis Brice, and Alexandra Durr
15 Autosomal Dominant Spastic Paraplegia: Loci/Genes other than SPG4 (spastin), Evan Reid
16 Overview on Hereditary Spastic Paraplegias, José Leal Loureiro and Paula Coutinho
17 X-linked Spastic Paraplegia, James Garbern
18 Genetic Testing for Hereditary Ataxia and Hereditary Spastic Paraplegia, Martha A. Nance
19 Recessive Spastic Paraplegias, Paula Coutinho and José Leal Loureiro