Key Features

  • 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.

Table of Contents


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

Autosomal Dominant

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

Autosomal Recessive

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


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© 2007
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About the authors