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Craniovertebral junction abnormality in a case of Joubert syndrome

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References

  1. Blair IP, Gibson RR, Bennett CL, Chance PF (2002) Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am J Med Genet 107:190–196

    Article  PubMed  Google Scholar 

  2. Schurman SJ, Scheinman SJ (2009) Inherited cerebrorenal syndromes. Nat Rev Nephrol 5:529–538

    Article  PubMed  Google Scholar 

  3. Parisi MA, Doherty D, Chance PF, Glass IA (2007) Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet 15:511–521

    Article  PubMed  CAS  Google Scholar 

  4. Joubert M, Eisenring JJ, Robb JP, Andermann F (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813–825

    Article  PubMed  CAS  Google Scholar 

  5. Kim J, Krishnaswami SR, Gleeson JG (2008) CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum Mol Genet 17:3796–3805

    Article  PubMed  CAS  Google Scholar 

  6. Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet 41:1032–1036

    Article  PubMed  CAS  Google Scholar 

  7. Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM, Sheffield VC (1993) Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet 5:392–396

    Article  PubMed  CAS  Google Scholar 

  8. Louie CM, Gleeson JG (2005) Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 14(Spec No. 2):R235–R242

    Article  PubMed  CAS  Google Scholar 

  9. Millen KJ, Gleeson JG (2008) Cerebellar development and disease. Curr Opin Neurobiol 18:12–19

    Article  PubMed  CAS  Google Scholar 

  10. Spassky N, Han Y-G, Aguilar A, Strehl L, Besse L, Laclef C, Ros MR, Garcia-Verdugo JM, Alvarez-Buylla A (2008) Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. Dev Biol 317:246–259

    Article  PubMed  CAS  Google Scholar 

  11. Chizhikov VV, Davenport J, Zhang Q, Shih EK, Cabello OA, Fuchs JL, Yoder BK, Millen KJ (2007) Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool. J Neurosci 27:9780–9789

    Article  PubMed  CAS  Google Scholar 

  12. Maria BL, Boltshauser E, Palmer SC, Tran TX (1999) Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 14:583–590, discussion 590–581

    Article  PubMed  CAS  Google Scholar 

  13. Quisling RG, Barkovich AJ, Maria BL (1999) Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol 14:628–635, discussion 669–672

    Article  PubMed  CAS  Google Scholar 

  14. Menezes AH, Vogel TW (2008) Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. Childs Nerv Syst 24:1155–1163

    Article  PubMed  Google Scholar 

  15. Yachnis AT, Rorke LB (1999) Cerebellar and brainstem development: an overview in relation to Joubert syndrome. J Child Neurol 14:570–573

    Article  PubMed  CAS  Google Scholar 

  16. Kaushik AP, Martin JA, Zhang Q, Sheffield VC, Morcuende JA (2009) Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet–Biedl syndrome mutant mice. J Orthop Res 27:1093–1099

    Article  PubMed  Google Scholar 

  17. Menezes AH, Fenoy KA (2009) Remnants of occipital vertebrae: proatlas segmentation abnormalities. Neurosurgery 64:945–953, discussion 954

    Article  PubMed  Google Scholar 

  18. Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P (1990) Joubert syndrome: a clinico-radiological study. Neuroradiology 31:502–506

    Article  PubMed  CAS  Google Scholar 

  19. Menezes AH, Traynelis VC (2008) Anatomy and biomechanics of normal craniovertebral junction (a) and biomechanics of stabilization (b). Childs Nerv Syst 24:1091–1100

    Article  PubMed  Google Scholar 

  20. Andermann F, Andermann E, Ptito A, Fontaine S, Joubert M (1999) History of Joubert syndrome and a 30-year follow-up of the original proband. J Child Neurol 14:565–569

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Timothy W. Vogel.

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Vogel, T.W., Dlouhy, B.J. & Menezes, A.H. Craniovertebral junction abnormality in a case of Joubert syndrome. Childs Nerv Syst 28, 1109–1112 (2012). https://doi.org/10.1007/s00381-012-1682-3

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