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Ataxia

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Abstract

The hereditary ataxias are a heterogeneous group of neurological disorders characterized by imbalance, unsteady gait, uncoordinated movements, dysarthria, and, often, abnormal oculomotor control. Age of onset of these disorders ranges from infancy to late life, and may include many additional clinical features such as neuropathy, cognitive dysfunction, and parkinsonism. Genetic counseling is frequently complicated by the overlap in phenotypes, anticipation, inability to predict age of onset, and lack of treatment options. This chapter will focus on the autosomal dominant spinocerebellar ataxias (SCAs), autosomal recessive Friedreich ataxia, and X-linked Fragile X tremor ataxia syndrome.

Keywords

  • Genetic Testing
  • Genetic Counselor
  • Repeat Expansion
  • Spinocerebellar Ataxia
  • Premature Ovarian Failure

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Fig. 5.1

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Correspondence to Alison La Pean Kirschner .

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Kirschner, A.L.P., Goldman, J.S. (2015). Ataxia. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_5

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