Reviewing the genetic causes of spastic-ataxias
- 2 October 2012
- journal article
- review article
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 79 (14), 1507-1514
- https://doi.org/10.1212/wnl.0b013e31826d5fb0
Abstract
Although the combined presence of ataxia and pyramidal features has a long differential, the presence of a true spastic-ataxia as the predominant clinical syndrome has a rather limited differential diagnosis. Autosomal recessive ataxia of Charlevoix-Saguenay, late-onset Friedreich ataxia, and hereditary spastic paraplegia type 7 are examples of genetic diseases with such a prominent spastic-ataxic syndrome as the clinical hallmark. We review the various causes of spastic-ataxic syndromes with a focus on the genetic disorders, and provide a clinical framework, based on age at onset, mode of inheritance, and additional clinical features and neuroimaging signs, that could serve the diagnostic workup.This publication has 37 references indexed in Scilit:
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