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Handbook of the Cerebellum and Cerebellar Disorders pp 2177–2191Cite as

Autosomal Recessive Cerebellar Ataxias

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Abstract

The hereditary ataxias represent a mixed group of conditions that can be classified according to their mode of inheritance into autosomal dominant, autosomal recessive, X-linked, and mitochondrial ataxias. The group of autosomal “recessive ataxias” alone comprises a very heterogeneous group of disorders for which mutations in several causative genes have been identified. This chapter will review autosomal recessives ataxias with an emphasis on those that are best defined: Friedreich’s Ataxia (FA), Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), Autosomal Recessive Cerebellar Ataxia type 1 (ARCA-1) and type 2 (ARCA-2), Ataxia with Oculomotor Apraxia type 1 (AOA-1) and type 2 (AOA-2) and Ataxia with Vitamin E Deficiency (AVED). For each disorder an overview of the clinical signs will be presented, the causative gene, as well as any clues about the disease pathogenesis and currently available or potential treatment.

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Authors and Affiliations

  1. Centre of Excellence in Neuroscience of Université de Montréal (CENUM), Centre de Recherche du Centre Hospitalier de l’Université de Montréal (CRCHUM), Montréal, Québec, H2L 4M1, Canada

    Dr. Anne Noreau, Dr. Patrick A. Dion & Dr. Guy A. Rouleau

  2. Department of Neurological Sciences, Laval University CHAUQ (Enfant-Jésus), Québec, Québec, G1J 1Z4, Canada

    Dr. Nicolas Dupré (Faculty of Medecine) & Dr. Jean-Pierre Bouchard (Faculty of Medecine)

  3. Department of Pathology and cellular biology, Université de Montréal, Montréal, Québec, H3T 1J4, Canada

    Dr. Patrick A. Dion

  4. Research Center CHU Ste–Justine, and Department of Pediatrics and Biochemistry, University of Montreal, Montréal, Québec, Canada

    Dr. Guy A. Rouleau

  5. Research Center CHU Ste–Justine, and Department of Pediatrics and Biochemistry, CHUM Research Centre, Montréal, Québec, Canada

    Dr. Guy A. Rouleau

Authors
  1. Dr. Anne Noreau
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  2. Dr. Nicolas Dupré
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  3. Dr. Jean-Pierre Bouchard
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  4. Dr. Patrick A. Dion
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  5. Dr. Guy A. Rouleau
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Correspondence to Guy A. Rouleau .

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Editors and Affiliations

  1. Unité d'Etude du Mouvement (UEM), FNRS, Neurologie ULB Erasme, Bruxelles, Belgium

    Mario Manto

  2. Ataxia Unit, Cognitive and Behavioral Neurology Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

    Jeremy D. Schmahmann

  3. Neuroscience Institute of the Cavalieri-Ottolenghi Foundation (NICO), University of Turin, Orbassano, Turin, Italy

    Ferdinando Rossi

  4. Molecular and Integrative Neuroscience Department (MIND), The Scripps Research Institute, California, CA, USA

    Donna L. Gruol

  5. Department of Integrative Physiolgy, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan

    Noriyuki Koibuchi

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Noreau, A., Dupré, N., Bouchard, JP., Dion, P.A., Rouleau, G.A. (2013). Autosomal Recessive Cerebellar Ataxias. In: Manto, M., Schmahmann, J.D., Rossi, F., Gruol, D.L., Koibuchi, N. (eds) Handbook of the Cerebellum and Cerebellar Disorders. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-1333-8_100

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