Cerebellar cognitive affective syndrome: Insights from Joubert syndrome

Cerebellum and Ataxias

Volumn 5, Issue 1, 2018, Pages

  Hickey, Chelsea L ^a   Sherman, Janet C ^a   Goldenberg, Paula ^a   Kritzer, Amy ^b   Caruso, Paul ^a   Schmahmann, Jeremy D ^a   Colvin, Mary K ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Behavior; Cerebellum; Cognition; Joubert syndrome; Neuropsychology

Indexed keywords

ADULT; AGGRESSION; ARTICLE; AUDITORY HALLUCINATION; CASE REPORT; CEREBELLAR COGNITIVE AFFECTIVE SYNDROME; CEREBELLUM DISEASE; CLINICAL ARTICLE; DEPRESSION; DEVELOPMENTAL DELAY; GENERALIZED ANXIETY DISORDER; GRANDIOSE DELUSION; HUMAN; INTELLECTUAL IMPAIRMENT; JOUBERT SYNDROME; MALE; MOOD DISORDER; MOTOR DYSFUNCTION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; PRIORITY JOURNAL; REPEATABLE BATTERY FOR NEUROPSYCHOLOGICAL STATUS; SUICIDAL DEPRESSION; VISUAL HALLUCINATION; WECHSLER ADULT INTELLIGENCE SCALE;

EID: 85062989104     PISSN: None     EISSN: 20538871     Source Type: Journal    
DOI: 10.1186/s40673-018-0085-y     Document Type: Article

References (43)

1. Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet. 1992;43(4):726-31.
2. Maria BL, KBN H, Tusa RJ, Mancuso AA, et al. "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol. 1997;12(7):423.
3. Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, et al. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol. 1999;14(6):368-76.
4. Joubert MMD, Eisenring J-JMD, Preston JR, Andermann FMD. Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19(9):813-25.
5. Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P. Joubert syndrome: a clinico-radiological study. Neuroradiology. 1990;31(6):502-6.
6. Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol. 2009;16(3):143-54.
7. Poretti A, Dietrich Alber F, Brancati F, Dallapiccola B, Valente EM, Boltshauser E. Normal cognitive functions in Joubert syndrome. Neuropediatrics. 2009;40(6):287-90.
8. Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert syndrome. Neuropediatrics. 1997;28(4):204-11.
9. Tavano A, Borgatti R. Evidence for a link among cognition, language and emotion in cerebellar malformations. Cortex. 2010;46(7):907-18.
10. Fennell EB, Gitten JC, Dede DE, Maria BL. Cognition, behavior, and development in Joubert syndrome. J Child Neurol. 1999;14(9):592-6.
11. Tavano A, Grasso R, Gagliardi C, Triulzi F, Bresolin N, Fabbro F, et al. Disorders of cognitive and affective development in cerebellar malformations. Brain. 2007;130(10):2646-60.
12. Schmahmann JD. The cerebellum and cognition. San Diego: Academic Press; 1997. Int. Rev. Neurobiol
13. Schmahmann JD. The role of the cerebellum in cognition and emotion: personal reflections since 1982 on the dysmetria of thought hypothesis, and its historical evolution from theory to therapy. Neuropsychol Rev. 2010;20(3):236-60.
14. Koziol LF, Budding D, Andreasen N, et al. Consensus paper: the cerebellum's role in movement and cognition. Cerebellum. 2014;13(1):151-77.
15. Schmahmann JD, Pandya DN. The cerebrocerebellar system. In: Schmahmann JD< ed., the cerebellum and cognition. San Diego: academic press. Int Rev Neurobiol. 1997;41:31-60.
16. Strick PL, Dum RP, Fiez JA. Cerebellum and nonmotor function. Annu Rev Neurosci. 2009;32:413-34.
17. Buckner RL, Krienn FM, Castellanos A, Diaz JC, Yeo BT. The organization of the human cerebellum estimated by intrinsic functional connectivity. J Neurophys. 2001;106:2322-45.
18. Stoodley CJ, Schmahmann JD. Functional topography in the human cerebellum: a meta-analysis of neuroimaging studies. NeuroImage. 2009;44(2):489-501.
19. Stoodley CJ, Valera EM, Schmahmann JD. Functional topography of the cerebellum for motor and cognitive tasks: an fMRI study. NeuroImage. 2012;59(2):1560-70.
20. Schoch B, Dimitrova A, Gizewski ER, Timmann D. Functional localization in the human cerebellum based on voxelwise statistical analysis: a study of 90 patients. NeuroImage. 2006;30(1):36-51.
21. Schmahmma JD, Macmore J, Vangel M. Cerebellar stroke without motor deficit: clinical evidence for motor and non-motor domains within the human cerebellum. Neurosci. 2009;162(3):852-61.
22. Stoodley CJ, Macmore JP, Makris N, Sherman JC, Schmahmann JD. Location of lesion determines motor vs cognitive consequences in patients with cerebellar stroke. 2016. Neuroimage Clin. 2016;12:765-75.
23. Schmahmann JD, Sherman JC. The cerebellar cognitive affective syndrome. Brain. 1998;121(4):561-79.
24. Schmahmann JD. Disorders of the cerebellum: ataxia, Dysmetria of thought, and the cerebellar cognitive affective syndrome. J Neuropsychiatry Clin Neurosci. 2004;16(3):367-78.
25. Schmahmann JD, Caplan D. Cognition, emotion and the cerebellum. Brain. 2006;129(2):290-2.
26. Manto M, Mariën P. Schmahmann's syndrome- identification of the third cornerstone of clinical ataxiology. Cereb Ataxias. 2015;2:2.
27. Schmahmann JD, Weilburg JB, Sherman JC. The neuropsychiatry of the cerebellum - insights from the clinic. Cerebellum. 2007;6(3):254-67.
28. Tedesco AM, Chiricozzi FR, Clausi S, Lupo M, Molinari M, Leggio MG. The cerebellar cognitive profile. Brain. 2011;134(12):3672-86.
29. Levisohn L, Cronin-Golomb A, Schmahmann JD. Neuropsychological consequences of cerebellar tumour resection in children. Brain. 2000;123(5):1041-50.
30. Riva D, Giorgi C. The cerebellum contributes to higher functions during development. Brain. 2000;123(5):1051-61.
31. Hoche F, Frankenberg E, Rambow J, Theis M, Harding JA, Qirshi M, et al. Cognitive phenotype in ataxia-telangiectasia. Pediatr Neurol. 2014;51(3):297-310.
32. Tavano A, Fabbro F, Borgatti R. Speaking without the cerebellum. Mental states. 1st ed. Amsterdam: John Benjamins Publishing Company; 2007. p. 171-90.
33. Limperopoulos C, Bassan H, Gauvreau K, Robertson RL, Sullivan NR, Benson CB, et al. Does cerebellar injury in premature infants contribute to the high prevalence of long-term cognitive, learning, and behavioral disability in survivors? Pediatrics. 2007;120(3):584-93.
34. Wechsler D. Wechsler adult intelligence scale - fourth edition (WAIS-IV). San Antonio: NCS Pearson Inc; 2008.
35. Randolph C. Repeatable battery for the assessment of neuropsychological status (RBANS). San Antonio: Psychological Corporation; 1998.
36. Wechsler D. Wechsler individual achievement test. Third. San Antonio: Psychological Corporation; 2009.
37. Trites R. Neuropsychological test manual. Ottawa: Royal Ottawa Hospital; 1977.
38. Bruininks R, Woodcock R, Weatherman R, Hill B. Scales of independent behavior-revised (SIB-R). Itasca: Riverside Publishing; 1996.
39. Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, et al. Cognitive, adaptive, and behavioral features in Joubert syndrome. Am J Med Genet A. 2016;170(12):3115-24.
40. Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, et al. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J Rare Dis. 2014;9:72.
41. Hinkley LB, Marco EJ, Findlay AM, Honma S, Jeremy RJ, Strominger Z, et al. The role of corpus callosum development in functional connectivity and cognitive processing. PLoS One. 2012;7:8.
42. Takahashi TN, Farmer JE, Deidrick KK, Hsu BS, Miles JH, Maria BL. Joubert syndrome is not a cause of classical autism. Am J Med Genet A. 2005;132A(4):347-51.
43. Poretti A, Snow J, Summers AC, Tekes A, Huisman TAGM, Aygun N, et al. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet. 2017;54(8):521-29. jmedgenet-2016-104425.