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Neurology. 2012 Oct 2;79(14):1507-14. doi: 10.1212/WNL.0b013e31826d5fb0.

Reviewing the genetic causes of spastic-ataxias.

Author information

1
Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.

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.

PMID:
23033504
DOI:
10.1212/WNL.0b013e31826d5fb0
[Indexed for MEDLINE]

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