Autosomal Recessive Cerebellar Ataxias

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 recessive 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, the causative gene, as well as any clues about the disease pathogenesis and currently available or potential treatment will be presented. Keywords Friedreich's ataxia • Autosomal recessive spastic ataxia of Charlevoix-Saguenay • Autosomal recessive cerebellar ataxia type 1 • Autosomal recessive cerebellar ataxia type 2 • Ataxia with oculomotor apraxia type 1 • Ataxia with oculomotor apraxia type 2 (AOA-2) • Ataxia with vitamin E deficiency