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Contents Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Friedreich’s Ataxia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) . . . . . . . . . . . . . . . . . Autosomal Recessive Cerebellar Ataxia Type 1 (ARCA-1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Autosomal Recessive Cerebellar Ataxia Type 2 (ARCA-2) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

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I. Haj Salem Faculté de médecine, Université Laval, Québec, QC, Canada e-mail: [email protected] A. Noreau Montreal Neurological Institute, McGill University, Montreal, QC, Canada e-mail: [email protected] J.-P. Bouchard Université Laval, Québec, Canada Département des sciences neurologiques, CHU de Québec, Hôpital de l’Enfant-Jésus, Québec, QC, Canada P. A. Dion Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada Department of Pathology and Cellular Biology, Université de Montréal, Montreal, QC, Canada e-mail: [email protected] G. A. Rouleau Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada e-mail: [email protected] N. Dupré (*) Centre Hospitalier Universitaire de Québec, Department of Medicine, CHU de Québec – Université Laval, Québec, QC, Canada e-mail: [email protected] © Springer Nature Switzerland AG 2020 M. Manto et al. (eds.), Handbook of the Cerebellum and Cerebellar Disorders, https://doi.org/10.1007/978-3-319-97911-3_100-2

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I. Haj Salem et al.

Ataxia with Oculomotor Apraxia Type 1 (AOA-1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Ataxia with Oculomotor Apraxia Type 2 (AOA-2) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Ataxia with Vitamin E Deficiency (AVED) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Conclusion and Future Directions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

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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 a

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