Abstract
Since the description of Friedreich ataxia more than 140 years ago, the phenotypic description of the autosomal recessive cerebellar ataxias has been a perpetually evolving field. These disorders classically present with a varying combination of gait disturbance, truncal and appendicular ataxia, dysarthria, eye movement abnormalities, sensorimotor neuropathy, pyramidal and extra-pyramidal tracts involvement, and other systemic manifestations. The progress of genetics has recently allowed a more accurate diagnostic work-up, which brought to light the great phenotypical heterogeneity of the genetically defined disease entities. We review here the clinical, genetic and molecular features of the most frequent and best-defined autosomal recessive ataxias: Friedreich ataxia, autosomal recessive spastic ataxia of Charlevoix-Saguenay, ataxia-telangiectasia, ataxia-telangiectasia-like disorder, autosomal recessive cerebellar ataxia types 1 and 2, ataxia with oculomotor apraxia types 1 and 2, ataxia with vitamin E deficiency, and abetalipoproteinemia. Emphasis will be placed on the key clinical features that enable discrimination between these complex diseases.
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Beaudin, M., Dupré, N. (2016). Autosomal Recessive Ataxias. In: Gruol, D., Koibuchi, N., Manto, M., Molinari, M., Schmahmann, J., Shen, Y. (eds) Essentials of Cerebellum and Cerebellar Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-24551-5_73
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DOI: https://doi.org/10.1007/978-3-319-24551-5_73
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