title: Reviewing the genetic causes of spastic-ataxias.
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.
authors.affiliation: Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.
authors.forename: Susanne T
authors.initials: ST
authors.lastname: de Bot
authors.forename: Michel A A P
authors.initials: MA
authors.lastname: Willemsen
authors.forename: Sascha
authors.initials: S
authors.lastname: Vermeer
authors.forename: Hubertus P H
authors.initials: HP
authors.lastname: Kremer
authors.forename: Bart P C
authors.initials: BP
authors.lastname: van de Warrenburg
mesh_terms: D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics*