title: Neuroradiologic features of CASK mutations.
abstract: 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.
authors.affiliation: Department of Pediatrics, Kameda Medical Center, 929 Higashi-cho, Kamogawa-shi, Chiba, Japan. jtaka@kameda.jp
authors.forename: J
authors.initials: J
authors.lastname: Takanashi
authors.forename: H
authors.initials: H
authors.lastname: Arai
authors.forename: S
authors.initials: S
authors.lastname: Nabatame
authors.forename: S
authors.initials: S
authors.lastname: Hirai
authors.forename: S
authors.initials: S
authors.lastname: Hayashi
authors.forename: J
authors.initials: J
authors.lastname: Inazawa
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: A J
authors.initials: AJ
authors.lastname: Barkovich
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D051528:Guanylate Kinases / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics
chemical_list: C106868:CASK kinases; D051528:Guanylate Kinases