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SPG4-related hereditary spastic paraplegia is associated with posterior fossa abnormalities that are part of the Dandy–Walker complex (DWC).
Scuderi et al1 share their finding of developmental posterior fossa anomalies in seven out of nine affected members of a large family and in one sporadic case with hereditary spastic paraplegia (HSP) due to SPG4 mutations (see page 440). The observed imaging abnormalities consisted of retrocerebellar fluid collections in all, accompanied by cerebellar hypoplasia and tentorial defects or displacements in some. These findings are compatible with abnormalities that are part of the DWC, although the authors do not specifically state that the retrocerebellar cysts …
Competing interests: None.
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