Diffusion tensor imaging in Joubert syndrome

American Journal of Neuroradiology

Volumn 28, Issue 10, 2007, Pages 1929-1933

  Poretti, A ^a   Boltshauser, E ^a   Loenneker, T ^a   Valente, E M ^b   Brancati, F ^b   Il'Yasov, K ^a,c   Huisman, Thierry A G M ^a,d,e  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY OF FREIBURG   (Germany)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANISOTROPY; ARTICLE; CEREBELLUM VERMIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIFFUSION TENSOR IMAGING; GENETIC ANALYSIS; HUMAN; JOUBERT SYNDROME; MESENCEPHALON; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PYRAMIDAL TRACT; SIGNAL NOISE RATIO;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BRAIN; CEREBELLUM; CHILD; DIFFUSION MAGNETIC RESONANCE IMAGING; HUMANS; PYRAMIDAL TRACTS; SYNDROME;

EID: 36448931602     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: 10.3174/ajnr.A0703     Document Type: Article

References (26)

1. Joubert M, Eisenring JJ, 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
2. Boltshauser E, Isler W. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie 1977;8:57-66
3. Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet 1992;43:726-31
4. Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet 1999;86:459-69
5. Maria BL, Hoang KB, Tusa RJ, et al. "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423-30
6. Lagier-Tourenne C, Boltshauser E, Breivik N, et al. Homozygosity mapping of a third Joubert syndrome locus to 6q23. J Med Genet 2004;41:273-77
7. Ferland RJ, Eyaid W, Collura RV, et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome [published erratum appears in Nat Genet 2004;36:1126]. Nat Genet 2004;36:1008-13
8. Dixon-Salazar T, Silhavy JL, Marsh SE, et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 2004;75:979-87
9. Parisi MA, Bennett CL, Eckert ML, et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet 2004;75:82-91
10. Castori M, Valente EM, Donati MA, et al. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 2005;42:e9
11. Sayer JA, Ottro EA, O'Toole JF, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 2006;38:674-81
12. Valente EM, Silhavy JL, Brancati F, et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet 2006;38:623-25
13. Baala L, Romano S, Khaddoour R, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 2007;80:186-94
14. Saar K, Al-Gazali L, Sztriha L, et al. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet 1999;65:1666-71
15. Valente EM, Salpietro DC, Brancati F, et al. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet 2003;73:663-70
16. Keeler RC, Marsh SE, Leeflang EP, et al. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet 2003;73:656-62
17. Friede RL, Boltshauser E. Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. Dev Med Child Neurol 1978;20:758-63
18. Yachnis AT, Rorke LB. Neuropathology of Joubert syndrome. J Child Neurol 1999;14:655-59; discussion 669-72
19. Widjaja E, Blaser S, Raybaud C. Diffusion tensor imaging of midline posterior fossa malformations. Pediatr Radiol 2006;36:510-17
20. Lee SK, Kim DI, Kim J, et al. Diffusion-tensor MR imaging and fiber tractography: a new method of describing aberrant fiber connections in developmental CNS anomalies. Radiographics 2005;25:53-65; discussion 66-68
21. Reese TG, Heid O, Weisskoff RM, et al. Reduction of eddy-current-induced distortion in diffusion MRI using a twice-refocused spin echo. Magn Reson Med 2003;49:177-82
22. Basser PJ, Pierpaoli C. Microstructural and physiological features of tissues elucidated by quantitative-diffusion-tensor MRI. J Magn Reson B 1996;111:209-19
23. Sener RN. MR imaging of Joubert's syndrome. Comput Med Imaging Graph 1995;19:481-86
24. Parisi MA, Pinter JD, Glass IA, et al. Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study. J Child Neurol 2004;19:214-18
25. Jen JC, Chan WM, Bosley TM, et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004;304:1509-13
26. Sicotte NL, Salamon G, Shattuck DW, et al. Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology 2006;67:519-21