Article Figures & Data
Figures
- Fig 1.
Color-coded FA-maps at the level of the superior cerebellar peduncles. A, In a healthy subject, the fibers within the superior cerebellar peduncles have a slight vertical orientation, characterized by a blue color coding on color-coded FA-maps, confirming the vertical orientation of the fibers within the superior cerebellar peduncles (arrows). B, In JS, the fibers in the superior cerebellar peduncles have a more horizontal orientation, confirmed by the green color coding of the superior cerebellar peduncles on color vector DTI (arrows).
- Fig 2.
Color-coded FA-maps at the level of the decussation of the superior cerebellar peduncles. A, In a healthy subject, on the color-coded FA-maps the decussation of the superior cerebellar peduncles is identified as a “red dot” (arrow) at the level of the inferior colliculi of the midbrain. The decussating fibers have a transverse orientation and consequently show a “red color coding.” B, In JS, the absence of the “red dot” on color-coded FA-maps within the midbrain confirms the failure of the superior cerebellar peduncles to decussate. C,D, Fiber tractography displays that, in JS, the fibers within the superior cerebellar peduncles that connect the dentate nucleus with the nucleus ruber do not cross and remain ipsilateral. Axial, coronal, and sagittal anatomic T2-weighted images are projected within the display for orientation purposes.
- Fig 3.
Color-coded FA-maps at the level of the dentate nuclei. In JS, the dentate nuclei are significantly lateralized (arrowheads).
- Fig 4.
Color-coded FA-maps of the decussation of the pyramidal tracts. A, In a healthy subject, the transverse orientation of the decussating fibers of the pyramidal tracts can be identified as a “red dot” within the caudal medulla (arrows). B, In JS, the “red dot” is missing, indicating that the pyramidal tracts do not cross within the caudal medulla. C, Fiber tractography displays the course of the pyramidal tracts (blue encoded) in a coronal projection. No crossing fibers could be identified, and the pyramidal tracts show a parallel course within the caudal medulla. A group of the noncrossing fibers within the superior cerebellar peduncles are also displayed on the left side (green encoded). An anatomic axial section is projected within the display for orientation purposes. D, In a healthy subject, fiber tractography displays the normal course of the pyramidal tracts (blue encoded) in a coronal projection. A partially red-encoded pyramidal decussation is seen at the level of the caudal medulla (large arrows). The red-encoded decussation of the superior cerebellar peduncles is seen at the level of the mesencephalon (arrowheads). In addition, multiple red-encoded crossing fibers are seen at the level of the pons (small arrows).
Tables
Patient 1 2 3 4* 5* 6 Age (y) 27 26 26 18 16 10 Origin Swiss Swiss Swiss Turkish Turkish Swiss Parental consanguinity + − − + + + CNS AT, OMA, CI AT, OMA, CI AT, OMA, CI AT, OMA, CI AT, OMAb, CI AT, OMA, CI Features Ocular PR nor nor PR PR nor Kidney nor nor nor NPHP NPHP nor Genetic form JBTS3 not known not known JBTS5 JBTS5 JBTS1 Note:— + indicates present; −, absent; AT, ataxia; OMA, ocular motor apraxia; CI, cognitive impairment; PR, pigmentary retinopathy; NPHP, nephronophthisis; nor, normal.
* Siblings.
- Table 2:
Structural MR and diffusion tensor imaging findings in six patients with Joubert syndrome
Patient Vermis MTS Superior Cerebellar Peduncles Location of the Deep Cerebellar Nuclei Pyramidal Tract Decussation Decussation Configuration 1 <1/3* + − Horizontal Lateralized − 2 <1/3* + − Horizontal Lateralized − 3 <1/3* + − Horizontal Lateralized − 4 <1/3* + − Horizontal Lateralized − 5 <2/3† + − Horizontal Quest, lateralized − 6 <1/3* + − Horizontal Lateralized − Note:—+ indicates present; −, absent; MTS, molar tooth sign; quest., questionably.
* Cerebellar vermis present only as far as the fissura prima.
† Cerebellar vermis present only as far as the fissura secunda.
In this issue
Jump to section
Related Articles
Cited By...
- Pituitary Gland Duplication Syndrome: An International Imaging Analysis
- Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
- Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting
- Tractography of the Cerebellar Peduncles in Second- and Third-Trimester Fetuses
- Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome
- Arl13b regulates Shh signaling from both inside and outside the cilium
- Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution
- Uncrossed epileptic seizures in Joubert syndrome
- Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
- Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding
- Human Genetic Disorders of Axon Guidance
- Exceptions to the Valsalva doctrine
- Eye Movement Abnormalities in Joubert Syndrome