There might be more to SPG4!

van de Warrenburg, Bart P. C.
April 2009
Journal of Neurology, Neurosurgery & Psychiatry;Apr2009, Vol. 80 Issue 4, p357
Academic Journal
The article discusses the study which evaluated the association of SPG4-related hereditary spastic paraplegia (HSP) with posterior fossa abnormalities that are part of the Dandy-Walker complex (DWC). It showed that imaging abnormalities composed of retrocerebellar fluid collections are linked by cerebellar hypoplasia and tentorial defects. It also indicated that SPG4 is the most common mutated gene and HSPs are genetically extremely heterogeneous.


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