RT Journal Article
SR Electronic
T1 Neuroradiologic Features of <em>CASK</em>  Mutations
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1619
OP 1622
DO 10.3174/ajnr.A2173
VO 31
IS 9
A1 Takanashi, J.
A1 Arai, H.
A1 Nabatame, S.
A1 Hirai, S.
A1 Hayashi, S.
A1 Inazawa, J.
A1 Okamoto, N.
A1 Barkovich, A.J.
YR 2010
UL http://www.ajnr.org/content/31/9/1619.abstract
AB SUMMARY: Mutations of the CASK gene are associated with X-linked mental retardation with microcephaly and disproportionate brain stem and cerebellar hypoplasia in females. The areas of the cerebrum, corpus callosum, pons, midbrain, and cerebellar vermis and hemisphere and a ratio of cerebrum/corpus callosum areas were measured in 5 female patients with CASK mutations, 67 female controls, and 5 patients with pontine hypoplasia. MR imaging in patients with CASK mutations revealed a normal size of the corpus callosum and a low ratio of the cerebrum/corpus callosum with a reduced area of the cerebrum, pons, midbrain, and cerebellar vermis and hemispheres. The 5 patients with pontine hypoplasia showed thinning of the corpus callosum and a high ratio of the cerebrum/corpus callosum, irrespective of the size of the cerebrum. The normal size of the corpus callosum, which gives an impression of callosal thickening at first glance, may be an imaging clue to detect patients with CASK mutations. CASKcalcium/calmodulin-dependent serine protein kinaseCINAPCASK interacting nucleosome assembly proteinPEHOprogressive encephalopathy, edema, hypsarrhythmia, and optic atrophyTBR1T-brain-1RELNreelin