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Ataxia

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Genetic Counseling for Adult Neurogenetic Disease

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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.

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Author information

Authors and Affiliations

  1. Department of Neurology, Center for Patient Care and Outcomes Research (PCOR), Medical College of Wisconsin, 8701 Watertown Plank Rd., Rm H3155, Milwaukee, WI, 53226, USA

    Alison La Pean Kirschner

  2. Taub Institute, Columbia University Medical Center, 630W. 168th St., Box 16, New York, NY, 10032, USA

    Jill S. Goldman

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  1. Alison La Pean Kirschner
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Correspondence to Alison La Pean Kirschner .

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  1. Taub Institute, Columbia University Medical Center, New York, New York, USA

    Jill S. Goldman

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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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