Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome

References

1. 1.↵
   2. Romani M,
   3. Micalizzi A,
   4. Valente EM

   . Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 2013;12:894–905 doi:10.1016/S1474-4422(13)70136-4 pmid:23870701

   CrossRefPubMedWeb of Science
2. 2.↵
   2. Joubert M,
   3. Eisenring JJ,
   4. Robb JP, et al

   . Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969;19:813–25 doi:10.1212/WNL.19.9.813 pmid:5816874

   FREE Full Text
3. 3.↵
   2. Zaki MS,
   3. Abdel-Aleem A,
   4. Abdel-Salam G, et al

   . The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology 2008;70:556–65 doi:10.1212/01.wnl.0000277644.12087.fd pmid:18268248

   Abstract/FREE Full Text
4. 4.↵
   2. Valente EM,
   3. Brancati F,
   4. Dallapiccola B

   . Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet 2008;51:1–23 doi:10.1016/j.ejmg.2007.11.003 pmid:18164675

   CrossRefPubMed
5. 5.↵
   2. Mitchison HM,
   3. Valente EM

   . Motile and non-motile cilia in human pathology: from function to phenotypes. J Pathol 2017;241:294–309 doi:10.1002/path.4843 pmid:27859258

   CrossRefPubMed
6. 6.↵
   2. Engle EC

   . Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol 2010;2:a001784 doi:10.1101/cshperspect.a001784 pmid:20300212

   Abstract/FREE Full Text
7. 7.↵
   2. Vilboux T,
   3. Doherty DA,
   4. Glass IA, et al

   . Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med 2017 Jan 26. [Epub ahead of print] doi:10.1038/gim.2016.204 pmid:28125082

   CrossRefPubMed
8. 8.↵
   2. Poretti A,
   3. Huisman TA,
   4. Scheer I, et al

   . Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol 2011;32:1459–63 doi:10.3174/ajnr.A2517 pmid:21680654

   Abstract/FREE Full Text
9. 9.↵
   2. Poretti A,
   3. Snow J,
   4. Summers AC, et al

   . Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet 2017 Jan 13. [Epub ahead of print] doi:10.1136/jmedgenet-2016-104425 pmid:28087721

   Abstract/FREE Full Text
10. 10.↵
    2. Pierpaoli C,
    3. Walker L,
    4. Irfanoglu MO, et al

    . Tortoise: an integrated software package for processing of diffusion MRI data. In: Proceedings of the International Society of Magnetic Resonance in Medicine, Stockholm, Sweden. May 1–7, 2010:1597
11. 11.↵
    2. Wang R,
    3. Benner T,
    4. Sorensen AG, et al

    . Diffusion toolkit: a software package for diffusion imaging data processing and tractography. In: Proceedings of the International Society of Magnetic Resonance in Medicine, Berlin, Germany. May 19–25, 2007:3720
12. 12.↵
    2. Brancati F,
    3. Iannicelli M,
    4. Travaglini L, et al

    ; International JSRD Study Group. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement. Hum Mutat 2009;30:E432–42 doi:10.1002/humu.20924 pmid:19058225

    CrossRefPubMed
13. 13.↵
    2. Roosing S,
    3. Romani M,
    4. Isrie M, et al

    . Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet 2016;53:608–15 doi:10.1136/jmedgenet-2016-103832 pmid:27208211

    Abstract/FREE Full Text
14. 14.↵
    2. Barth PG,
    3. Majoie CB,
    4. Caan MWA, et al

    . Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain 2007;130:2258–66 doi:10.1093/brain/awm188 pmid:17690130

    CrossRefPubMedWeb of Science
15. 15.↵
    2. Harting I,
    3. Kotzaeridou U,
    4. Poretti A, et al

    . Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding. AJNR Am J Neuroradiol 2011;32:1286–89 doi:10.3174/ajnr.A2488 pmid:21636654

    Abstract/FREE Full Text
16. 16.↵
    2. Huppke P,
    3. Wegener E,
    4. Böhrer-Rabel H, et al

    . Tectonic gene mutations in patients with Joubert syndrome. Eur J Hum Genet 2015;23:616–20 doi:10.1038/ejhg.2014.160 pmid:25118024

    CrossRefPubMed
17. 17.↵
    2. Alorainy IA,
    3. Sabir S,
    4. Seidahmed MZ, et al

    . Brain stem and cerebellar findings in Joubert syndrome. J Comput Assist Tomogr 2006;30:116–21 doi:10.1097/01.rct.0000191681.05473.13 pmid:16365585

    CrossRefPubMedWeb of Science
18. 18.↵
    2. Jeurissen B,
    3. Leemans A,
    4. Tournier J-D, et al

    . Investigating the prevalence of complex fiber configurations in white matter tissue with diffusion magnetic resonance imaging. Hum Brain Mapp 2013;34:2747–66 doi:10.1002/hbm.22099 pmid:22611035

    CrossRefPubMed
19. 19.↵
    2. Friede RL,
    3. Boltshauser E

    . Uncommon syndromes of cerebellar vermis aplasia, I: Joubert syndrome. Dev Med Child Neurol 1978;20:758–63 pmid:729929

    PubMedWeb of Science
20. 20.↵
    2. Yachnis AT,
    3. Rorke LB

    . Neuropathology of Joubert syndrome. J Child Neurol 1999;14:655–59; discussion 669–72 doi:10.1177/088307389901401006 pmid:10511338

    CrossRefPubMedWeb of Science
21. 21.↵
    2. Ferland RJ,
    3. Eyaid W,
    4. Collura RV, et al

    . Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 2004;36:1008–13 doi:10.1038/ng1419 pmid:15322546

    CrossRefPubMedWeb of Science
22. 22.↵
    2. Juric-Sekhar G,
    3. Adkins J,
    4. Doherty D, et al

    . Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. Acta Neuropathol 2012;123:695–709 doi:10.1007/s00401-012-0951-2 pmid:22331178

    CrossRefPubMedWeb of Science
23. 23.↵
    2. Poretti A,
    3. Boltshauser E,
    4. Loenneker T, et al

    . Diffusion tensor imaging in Joubert syndrome. AJNR Am J Neuroradiol 2007;28:1929–33 doi:10.3174/ajnr.A0703 pmid:17898198

    Abstract/FREE Full Text
24. 24.↵
    2. Miyata H,
    3. Miyata M,
    4. Ohama E

    . Pyramidal tract abnormalities in the human fetus and infant with trisomy 18 syndrome. Neuropathology 2014;34:219–26 doi:10.1111/neup.12081 pmid:24313853

    CrossRefPubMed
25. 25.↵
    2. ten Donkelaar HJ,
    3. Lammens M,
    4. Wesseling P, et al

    . Development and malformations of the human pyramidal tract. J Neurol 2004;251:1429–42 doi:10.1007/s00415-004-0653-3 pmid:15645341

    CrossRefPubMedWeb of Science
26. 26.↵
    2. Mitter C,
    3. Jakab A,
    4. Brugger PC, et al

    . Validation of in utero tractography of human fetal commissural and internal capsule fibers with histological structure tensor analysis. Front Neuroanat 2015;9:164 doi:10.3389/fnana.2015.00164 pmid:26732460

    CrossRefPubMed
27. 27.↵
    2. Welniarz Q,
    3. Dusart I,
    4. Roze E

    . The corticospinal tract: evolution, development, and human disorders. Dev Neurobiol 2017;77:810–29 doi:10.1002/dneu.22455 pmid:27706924

    CrossRefPubMed
28. 28.↵
    2. Dawe HR,
    3. Smith UM,
    4. Cullinane AR, et al

    . The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet 2007;16:173–86 pmid:17185389

    CrossRefPubMedWeb of Science
29. 29.↵
    2. Smith UM,
    3. Consugar M,
    4. Tee LJ, et al

    . The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet 2006;38:191–16 doi:10.1038/ng1713 pmid:16415887

    CrossRefPubMedWeb of Science
30. 30.↵
    2. Baala L,
    3. Khaddour R,
    4. Saunier S, et al

    . The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 2007;80:186–94 doi:10.1086/510499 pmid:17160906

    CrossRefPubMedWeb of Science
31. 31.↵
    2. Suzuki T,
    3. Miyake N,
    4. Tsurusaki Y, et al

    . Molecular genetic analysis of 30 families with Joubert syndrome. Clin Genet 2016;90:526–35 doi:10.1111/cge.12836 pmid:27434533

    CrossRefPubMed
32. 32.↵
    2. Otto EA,
    3. Tory K,
    4. Attanasio M, et al

    . Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet 2009;46:663–70 doi:10.1136/jmg.2009.066613 pmid:19508969

    Abstract/FREE Full Text
33. 33.↵
    2. Iannicelli M,
    3. Brancati F,
    4. Mougou-Zerelli S, et al

    ; International JSRD Study Group. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat 2010;31:E1319–31 doi:10.1002/humu.21239 pmid:20232449

    CrossRefPubMedWeb of Science
34. 34.↵
    2. Bachmann-Gagescu R,
    3. Phelps IG,
    4. Dempsey JC, et al

    . KIAA0586 is mutated in Joubert syndrome. Hum Mutat 2015;36:831–35 doi:10.1002/humu.22821 pmid:26096313

    CrossRefPubMed
35. 35.↵
    2. Poretti A,
    3. Meoded A,
    4. Rossi A, et al

    . Diffusion tensor imaging and fiber tractography in brain malformations. Pediatr Radiol 2013;43:28–54 doi:10.1007/s00247-012-2428-9 pmid:23288476

    CrossRefPubMed
36. 36.↵
    2. Briguglio M,
    3. Pinelli L,
    4. Giordano L, et al

    . Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis 2011;6:36 doi:10.1186/1750-1172-6-36 pmid:21651769

    CrossRefPubMed
37. 37.↵
    2. Haller S,
    3. Wetzel SG,
    4. Lütschg J

    . Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis. Neuroradiology 2008;50:453–59 doi:10.1007/s00234-007-0359-1 pmid:18214457

    CrossRefPubMed
38. 38.↵
    2. Caan MW,
    3. Barth PG,
    4. Niermeijer JM, et al

    . Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia. Eur J Paediatr Neurol 2014;18:434–38 doi:10.1016/j.ejpn.2013.12.007 pmid:24485946

    CrossRefPubMed
39. 39.↵
    2. Sicotte NL,
    3. Salamon G,
    4. Shattuck DW, et al

    . Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology 2006;67:519–21 doi:10.1212/01.wnl.0000227960.38262.0c pmid:16894121

    Abstract/FREE Full Text
40. 40.↵
    2. Arrigoni F,
    3. Romaniello R,
    4. Peruzzo D, et al

    . Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype. Eur Radiol 2016;26:2587–96 doi:10.1007/s00330-015-4084-6 pmid:26560723

    CrossRefPubMed