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  • Title: Reviewing the genetic causes of spastic-ataxias.
    Author: de Bot ST, Willemsen MA, Vermeer S, Kremer HP, van de Warrenburg BP.
    Journal: Neurology; 2012 Oct 02; 79(14):1507-14. PubMed ID: 23033504.
    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.
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