Document Detail

Reviewing the genetic causes of spastic-ataxias.
MedLine Citation:
PMID:  23033504     Owner:  NLM     Status:  In-Data-Review    
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.
Susanne T de Bot; Michel A A P Willemsen; Sascha Vermeer; Hubertus P H Kremer; Bart P C van de Warrenburg
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Neurology     Volume:  79     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-03     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1507-14     Citation Subset:  AIM; IM    
From the Donders Institute for Brain, Cognition and Behaviour, Departments of Neurology (S.T.d.B., B.P.C.v.d.W.), Paediatric Neurology (M.A.A.P.W.), and Human Genetics (S.V.), Radboud University Nijmegen Medical Centre, Nijmegen; and Department of Neurology (H.P.H.K.), University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
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