Mikako Enokizono1, Noriko Aida2, Tetsu Niwa3, Hitoshi Osaka4, Takuya Naruto5, Kenji Kurosawa5, Chihiro Ohba6, Toshifumi Suzuki7, Hirotomo Saitsu8, Tomohide Goto9, Naomichi Matsumoto10. 1. Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address: menokizono@ncnp.go.jp. 2. Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan. 3. Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Radiology, Tokai University School of Medicine, Isehara, Japan. 4. Department of Pediatrics, Jichi Medical University, Tochigi, Japan. 5. Department of Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. 6. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan. 7. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan. 8. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. 9. Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan. 10. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Abstract
PURPOSE: Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations. MATERIALS AND METHODS: Neuroimaging findings in five JBTS patients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on T1-magnetization prepared rapid gradient echo (MPRAGE), T2-weighted images, and color-coded fractional anisotropy (FA) maps; the findings were compared to those in four JBTS patients with mutations in other genes (including three with AHI1 and one with TMEM67 mutations). RESULTS: In C5orf42-mutant patients, the infratentorial magnetic resonance (MR) images showed normal or minimally thickened and minimally elongated superior cerebellar peduncles (SCP), normal or minimally deepened interpeduncular fossa (IF), and mild vermian hypoplasia (VH). However, in other patients, all had severe abnormalities in the SCP and IF, and moderate to marked VH. Supratentorial abnormalities were found in one individual in other JBTS. In JBTS with all mutations, color-coded FA maps showed the absence of decussation of the SCP (DSCP). CONCLUSION: The morphological neuroimaging findings in C5orf42-mutant JBTS were distinctly mild and made diagnosis difficult. However, the absence of DSCP on color-coded FA maps may facilitate the diagnosis of JBTS.
PURPOSE: Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTSpatients with C5orf42 mutations. MATERIALS AND METHODS: Neuroimaging findings in five JBTSpatients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on T1-magnetization prepared rapid gradient echo (MPRAGE), T2-weighted images, and color-coded fractional anisotropy (FA) maps; the findings were compared to those in four JBTSpatients with mutations in other genes (including three with AHI1 and one with TMEM67 mutations). RESULTS: In C5orf42-mutant patients, the infratentorial magnetic resonance (MR) images showed normal or minimally thickened and minimally elongated superior cerebellar peduncles (SCP), normal or minimally deepened interpeduncular fossa (IF), and mild vermian hypoplasia (VH). However, in other patients, all had severe abnormalities in the SCP and IF, and moderate to marked VH. Supratentorial abnormalities were found in one individual in other JBTS. In JBTS with all mutations, color-coded FA maps showed the absence of decussation of the SCP (DSCP). CONCLUSION: The morphological neuroimaging findings in C5orf42-mutant JBTS were distinctly mild and made diagnosis difficult. However, the absence of DSCP on color-coded FA maps may facilitate the diagnosis of JBTS.
Authors: Ruxandra Bachmann-Gagescu; Jennifer C Dempsey; Sara Bulgheroni; Maida L Chen; Stefano D'Arrigo; Ian A Glass; Theo Heller; Elise Héon; Friedhelm Hildebrandt; Nirmal Joshi; Dana Knutzen; Hester Y Kroes; Stephen H Mack; Sara Nuovo; Melissa A Parisi; Joseph Snow; Angela C Summers; Jordan M Symons; Wadih M Zein; Eugen Boltshauser; John A Sayer; Meral Gunay-Aygun; Enza Maria Valente; Dan Doherty Journal: Am J Med Genet A Date: 2019-11-11 Impact factor: 2.802
Authors: Stephanie F Wang; Tia J Kowal; Ke Ning; Euna B Koo; Albert Y Wu; Vinit B Mahajan; Yang Sun Journal: Genes (Basel) Date: 2018-12-04 Impact factor: 4.096