Reviewing the genetic causes of spastic-ataxias

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Title:	Reviewing the genetic causes of spastic-ataxias
Author(s):	Bot, S.T. de ; Willemsen, M.A.A.P. ; Vermeer, S. ; Kremer, H.P.H. ; Warrenburg, B.P.C. van de
Publication year:	2012
Source:	Neurology, vol. 79, iss. 14, (2012), pp. 1507-1514
ISSN:	0028-3878
DOI:	https://doi.org/10.1212/WNL.0b013e31826d5fb0
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/109404
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Subject:	DCN MP - Plasticity and memory IGMD 3: Genomic disorders and inherited multi-system disorders
Organization:	Neurology Paediatrics Human Genetics
Journal title:	Neurology
Volume:	vol. 79
Issue:	iss. 14
Page start:	p. 1507
Page end:	p. 1514
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.