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Volumn 18, Issue 6, 2006, Pages 621-627

Disorders of cerebellar growth and development

Author keywords

Cerebellum; Development; Posterior fossa; Prematurity

Indexed keywords

BRAIN DEVELOPMENT; BRAIN GROWTH; BRAIN INJURY; BRAIN MALFORMATION; BRAIN STEM; CEREBELLUM; CEREBELLUM DISEASE; CEREBELLUM HEMORRHAGE; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CEREBROSPINAL FLUID; DANDY WALKER SYNDROME; DEVELOPMENTAL GENETICS; DISEASE CLASSIFICATION; FETUS DEVELOPMENT; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JOUBERT SYNDROME; MICROMORPHOLOGY; NEUROIMAGING; PEDIATRICIAN; POSTERIOR FOSSA; POSTNATAL DEVELOPMENT; PREMATURITY; PRIORITY JOURNAL; REVIEW;

EID: 33750982716     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e32801080e8     Document Type: Review
Times cited : (52)

References (41)
  • 1
    • 0036674092 scopus 로고    scopus 로고
    • Analysis and classification of cerebellar malformations
    • Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 2002; 23:1074-1087.
    • (2002) AJNR Am J Neuroradiol , vol.23 , pp. 1074-1087
    • Patel, S.1    Barkovich, A.J.2
  • 2
    • 0036926418 scopus 로고    scopus 로고
    • Malformations of the posterior fossa: Current perspectives
    • Niesen CE. Malformations of the posterior fossa: current perspectives. Semin Pediatr Neurol 2002; 9:320-334.
    • (2002) Semin Pediatr Neurol , vol.9 , pp. 320-334
    • Niesen, C.E.1
  • 3
    • 31144450142 scopus 로고    scopus 로고
    • Diagnostic approach to cerebellar disease in children
    • D'Arrigo S, Vigano L, Grazia Bruzzone M, et al. Diagnostic approach to cerebellar disease in children. J Child Neurol 2005; 20:859-866. This study provides a systematic, retrospective review of patients with structural abnormalities of the cerebellum using MRI, proposing a framework for distinguishing malformations from metabolic-degenerative conditions.
    • (2005) J Child Neurol , vol.20 , pp. 859-866
    • D'Arrigo, S.1    Vigano, L.2    Grazia Bruzzone, M.3
  • 4
    • 0036939526 scopus 로고    scopus 로고
    • Abnormalities of cerebellar foliation and fissuration: Classification, neurogenetics and clinicoradiological correlations
    • Demaerel P. Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology 2002; 44:639-646.
    • (2002) Neuroradiology , vol.44 , pp. 639-646
    • Demaerel, P.1
  • 5
    • 2142699474 scopus 로고    scopus 로고
    • Integrative classification of morphology and molecular genetics in central nervous system malformations
    • Sarnat HB, Flores-Sarnat L. Integrative classification of morphology and molecular genetics in central nervous system malformations. Am J Med Genet A 2004; 126:386-392.
    • (2004) Am J Med Genet A , vol.126 , pp. 386-392
    • Sarnat, H.B.1    Flores-Sarnat, L.2
  • 6
    • 20044382457 scopus 로고    scopus 로고
    • Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity
    • Sztriha L, Johansen JG. Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity. Am J Med Genet A 2005; 135:134-141. This report provides a review of patients with a spectrum of hindbrain malformations with a high parental consanguinity rate and extends the number of gene loci known to be associated with Joubert syndrome, including loci on chromosomes 6 (the AHI1 gene), 9, and 11.
    • (2005) Am J Med Genet A , vol.135 , pp. 134-141
    • Sztriha, L.1    Johansen, J.G.2
  • 7
    • 0141627447 scopus 로고    scopus 로고
    • Development and developmental disorders of the human cerebellum
    • ten Donkelaar HJ, Lammens M, Wesseling P, et al. Development and developmental disorders of the human cerebellum. J Neurol 2003; 250:1025-1036.
    • (2003) J Neurol , vol.250 , pp. 1025-1036
    • Ten Donkelaar, H.J.1    Lammens, M.2    Wesseling, P.3
  • 9
    • 0028072850 scopus 로고
    • Closure of the cerebellar vermis: Evaluation with second trimester US
    • Bromley B, Nadel AS, Pauker S, et al. Closure of the cerebellar vermis: evaluation with second trimester US. Radiology 1994; 193:761-763.
    • (1994) Radiology , vol.193 , pp. 761-763
    • Bromley, B.1    Nadel, A.S.2    Pauker, S.3
  • 10
    • 0027290048 scopus 로고
    • Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders
    • Hagberg BA, Blennow G, Kristiansson B, Stibler H. Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol 1993; 9:255-262.
    • (1993) Pediatr Neurol , vol.9 , pp. 255-262
    • Hagberg, B.A.1    Blennow, G.2    Kristiansson, B.3    Stibler, H.4
  • 11
    • 2442486655 scopus 로고    scopus 로고
    • The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection
    • de Vries LS, Gunardi H, Barth PG, et al. The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection. Neuropediatrics 2004; 35:113-119.
    • (2004) Neuropediatrics , vol.35 , pp. 113-119
    • De Vries, L.S.1    Gunardi, H.2    Barth, P.G.3
  • 12
    • 33644861122 scopus 로고    scopus 로고
    • Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
    • Patel MS, Becker LE, Toi A, et al. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet A 2006; 140:594-603. This study represents the earliest reported case series of three siblings with severe, fetal-onset olivopontocerebellar hypoplasia. The diagnosis is discussed in the context of a differential diagnosis for infantile olivopontocerebellar hypoplasia, and a classification scheme for the pontocerebellar hypoplasias is proposed.
    • (2006) Am J Med Genet A , vol.140 , pp. 594-603
    • Patel, M.S.1    Becker, L.E.2    Toi, A.3
  • 13
    • 33645852571 scopus 로고    scopus 로고
    • Diagnosis of inferior vermian hypoplasia by fetal magnetic resonance imaging: Potential pitfalls and neurodevelopmental outcome
    • Limperopoulos C, Robertson RL, Estroff JA, et al. Diagnosis of inferior vermian hypoplasia by fetal magnetic resonance imaging: potential pitfalls and neurodevelopmental outcome. Am J Obstet Gynecol 2006; 194:1070-1076. This study emphasizes that isolated vermian hypoplasia may be over-diagnosed by fetal MRI and that postnatal imaging is warranted. This study also demonstrates that infants with isolated inferior vermian hypoplasia are free of major neurodevelopmental disabilities, a feature not previously emphasized in prognostication.
    • (2006) Am J Obstet Gynecol , vol.194 , pp. 1070-1076
    • Limperopoulos, C.1    Robertson, R.L.2    Estroff, J.A.3
  • 14
    • 33645774086 scopus 로고    scopus 로고
    • AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
    • Parisi MA, Doherty D, Eckert ML, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet 2006; 43:334-339.
    • (2006) J Med Genet , vol.43 , pp. 334-339
    • Parisi, M.A.1    Doherty, D.2    Eckert, M.L.3
  • 15
    • 0034085746 scopus 로고    scopus 로고
    • The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: Associated findings and outcomes
    • Ecker JL, Shipp TD, Bromley B, Benacerraf B. The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: associated findings and outcomes. Prenat Diagn 2000; 20:328-332.
    • (2000) Prenat Diagn , vol.20 , pp. 328-332
    • Ecker, J.L.1    Shipp, T.D.2    Bromley, B.3    Benacerraf, B.4
  • 16
    • 0032989288 scopus 로고    scopus 로고
    • Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance
    • Maria BL, Quisling RG, Rosainz LC, et al. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 1999; 14:368-376.
    • (1999) J Child Neurol , vol.14 , pp. 368-376
    • Maria, B.L.1    Quisling, R.G.2    Rosainz, L.C.3
  • 17
    • 33644821331 scopus 로고    scopus 로고
    • AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
    • Valente EM, Brancati F, Silhavy JL, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol 2006; 59:527-534. This study identified 15 mutations in 10 families with pure Joubert syndrome and Joubert syndrome plus retinal and/or additional central nervous system findings. This study also highlighted that AHI1 mutations are a common cause of disease in patients with specific forms of Joubert syndrome-related disorders.
    • (2006) Ann Neurol , vol.59 , pp. 527-534
    • Valente, E.M.1    Brancati, F.2    Silhavy, J.L.3
  • 18
    • 10744229593 scopus 로고    scopus 로고
    • Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
    • Gleeson JG, Keeler LC, Parisi MA, et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A 2004; 125:125-134.
    • (2004) Am J Med Genet A , vol.125 , pp. 125-134
    • Gleeson, J.G.1    Keeler, L.C.2    Parisi, M.A.3
  • 19
    • 20144387205 scopus 로고    scopus 로고
    • Distinguishing the four genetic causes of Jouberts syndrome-related disorders
    • Valente EM, Marsh SE, Castori M, et al. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol 2005; 57:513-519. This study describes the phenotypic spectrum associated with the three loci that have been previously described in Joubert syndrome-related disorders; JBTS1 and JBTS3 show features restricted to the central nervous system whereas JBTS2 is associated with multiorgan involvement of kidney, retina, and liver, in addition to the central nervous system features, and results in extreme phenotypic variability.
    • (2005) Ann Neurol , vol.57 , pp. 513-519
    • Valente, E.M.1    Marsh, S.E.2    Castori, M.3
  • 20
    • 8844271686 scopus 로고    scopus 로고
    • Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria
    • 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; 75:979-987.
    • (2004) Am J Hum Genet , vol.75 , pp. 979-987
    • Dixon-Salazar, T.1    Silhavy, J.L.2    Marsh, S.E.3
  • 21
    • 3042637388 scopus 로고    scopus 로고
    • The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
    • 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.
    • (2004) Am J Hum Genet , vol.75 , pp. 82-91
    • Parisi, M.A.1    Bennett, C.L.2    Eckert, M.L.3
  • 22
    • 0030861203 scopus 로고    scopus 로고
    • Genetic disorders and cerebellar structural abnormalities in childhood
    • Ramaekers VT, Heimann G, Reul J, et al. Genetic disorders and cerebellar structural abnormalities in childhood. Brain 1997; 120:1739-1751.
    • (1997) Brain , vol.120 , pp. 1739-1751
    • Ramaekers, V.T.1    Heimann, G.2    Reul, J.3
  • 23
    • 0142058076 scopus 로고    scopus 로고
    • Human malformations of the midbrain and hindbrain: Review and proposed classification scheme
    • Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab 2003; 80:36-53.
    • (2003) Mol Genet Metab , vol.80 , pp. 36-53
    • Parisi, M.A.1    Dobyns, W.B.2
  • 24
    • 2142825062 scopus 로고    scopus 로고
    • Cerebellum-small brain but large confusion: A review of selected cerebellar malformations and disruptions
    • Boltshauser E. Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet A 2004; 126:376-385.
    • (2004) Am J Med Genet A , vol.126 , pp. 376-385
    • Boltshauser, E.1
  • 25
    • 0027771377 scopus 로고
    • Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset
    • Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993; 15:411-422.
    • (1993) Brain Dev , vol.15 , pp. 411-422
    • Barth, P.G.1
  • 27
    • 0030669218 scopus 로고    scopus 로고
    • Math1 is essential for genesis of cerebellar granule neurons
    • Ben-Arie N, Bellen HJ, Armstrong DL, et al. Math1 is essential for genesis of cerebellar granule neurons. Nature 1997; 390:169-172.
    • (1997) Nature , vol.390 , pp. 169-172
    • Ben-Arie, N.1    Bellen, H.J.2    Armstrong, D.L.3
  • 28
    • 0031063190 scopus 로고    scopus 로고
    • Cerebellar deficient folia (cdf): A new mutation on mouse chromosome 6
    • Cook SA, Bronson RT, Donahue LR, et al. Cerebellar deficient folia (cdf): a new mutation on mouse chromosome 6. Mamm Genome 1997; 8:108-112.
    • (1997) Mamm Genome , vol.8 , pp. 108-112
    • Cook, S.A.1    Bronson, R.T.2    Donahue, L.R.3
  • 29
    • 0038137184 scopus 로고    scopus 로고
    • A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21
    • Rajab A, Mochida GH, Hill A, et al. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology 2003; 60:1664-1667.
    • (2003) Neurology , vol.60 , pp. 1664-1667
    • Rajab, A.1    Mochida, G.H.2    Hill, A.3
  • 30
    • 0037312766 scopus 로고    scopus 로고
    • Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia
    • Miossec-Chauvet E, Mikaeloff Y, Heron D, et al. Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia. Neuropediatrics 2003; 34:1-6.
    • (2003) Neuropediatrics , vol.34 , pp. 1-6
    • Miossec-Chauvet, E.1    Mikaeloff, Y.2    Heron, D.3
  • 31
    • 24344485189 scopus 로고    scopus 로고
    • Disruption of cerebellar development: Potential complication of extreme prematurity
    • Messerschmidt A, Brugger PC, Boltshauser E, et al. Disruption of cerebellar development: potential complication of extreme prematurity. AJNR Am J Neuroradiol 2005; 26:1659-1667. This study identifies three distinct morphologic patterns of cerebellar injury in preterm infants and emphasizes that selective vulnerability of the developing cerebellum together with perinatal risk factors results in destruction of the immature cerebellum and subsequent developmental arrest.
    • (2005) AJNR Am J Neuroradiol , vol.26 , pp. 1659-1667
    • Messerschmidt, A.1    Brugger, P.C.2    Boltshauser, E.3
  • 32
    • 33644619824 scopus 로고    scopus 로고
    • Cerebellar hemorrhage in the preterm infant: Ultrasonographic findings and risk factors
    • Limperopoulos C, Benson CB, Bassan H, et al. Cerebellar hemorrhage in the preterm infant: ultrasonographic findings and risk factors. Pediatrics 2005; 116:717-724. This retrospective case-cohort study demonstrates a previously under-recognized prevalence of cerebellar hemorrhage in the surviving preterm infant. This study presents a wide spectrum of cerebellar hemorrhages in the preterm infant and underlines the multifactorial risk factors associated with this injury.
    • (2005) Pediatrics , vol.116 , pp. 717-724
    • Limperopoulos, C.1    Benson, C.B.2    Bassan, H.3
  • 33
    • 0036557950 scopus 로고    scopus 로고
    • Cerebellar infarction: An unrecognized complication of very low birthweight
    • Johnsen SD, Tarby TJ, Lewis KS, et al. Cerebellar infarction: an unrecognized complication of very low birthweight. J Child Neurol 2002; 17:320-324.
    • (2002) J Child Neurol , vol.17 , pp. 320-324
    • Johnsen, S.D.1    Tarby, T.J.2    Lewis, K.S.3
  • 34
    • 15444370322 scopus 로고    scopus 로고
    • Frequency and nature of cerebellar injury in the extremely premature survivor with cerebral palsy
    • Johnsen SD, Bodensteiner JB, Lotze TE. Frequency and nature of cerebellar injury in the extremely premature survivor with cerebral palsy. J Child Neurol 2005; 20:60-64. This study describes a severe and under-recognized injury to the cerebellum as a complication of extremely premature birth. This prominent injury to the inferior cerebellum suggests infarction and is associated with an adverse neurodevelopmental outcome.
    • (2005) J Child Neurol , vol.20 , pp. 60-64
    • Johnsen, S.D.1    Bodensteiner, J.B.2    Lotze, T.E.3
  • 36
    • 33644680177 scopus 로고    scopus 로고
    • Impaired trophic interactions between the cerebellum and the cerebrum among preterm infants
    • Limperopoulos C, Soul JS, Haidar H, et al. Impaired trophic interactions between the cerebellum and the cerebrum among preterm infants. Pediatrics 2005; 116:844-850. This study provides in-vivo evidence for a significant crossed trophic effect between the developing cerebral and cerebellar structures in the preterm infant using quantitative, advanced MRI techniques, and provides important insights into the integrated anatomical and functional relationships between the developing cerebrum and cerebellum.
    • (2005) Pediatrics , vol.116 , pp. 844-850
    • Limperopoulos, C.1    Soul, J.S.2    Haidar, H.3
  • 37
    • 33748070829 scopus 로고    scopus 로고
    • Reduction in cerebellar volumes in preterm infants: Relationship to white matter injury and neurodevelopment at two years of age
    • Shah DK, Anderson PJ, Carlin JB, et al. Reduction in cerebellar volumes in preterm infants: relationship to white matter injury and neurodevelopment at two years of age. Pediatr Res 2006; 60:97-102.
    • (2006) Pediatr Res , vol.60 , pp. 97-102
    • Shah, D.K.1    Anderson, P.J.2    Carlin, J.B.3
  • 38
    • 33745694581 scopus 로고    scopus 로고
    • Smaller cerebellar volumes in very preterm infants at term-equivalent age are associated with the presence of supratentorial lesions
    • Srinivasan L, Allsop J, Counsell SJ, et al. Smaller cerebellar volumes in very preterm infants at term-equivalent age are associated with the presence of supratentorial lesions. AJNR Am J Neuroradiol 2006; 27:573-579. This study demonstrates that cerebellar volume is reduced in preterm infants at term with supratentorial lesions only. However, preterm infants at term-equivalent age have similar cerebellar volumes compared with term infants in the presence of normal imaging.
    • (2006) AJNR Am J Neuroradiol , vol.27 , pp. 573-579
    • Srinivasan, L.1    Allsop, J.2    Counsell, S.J.3
  • 39
    • 20344376442 scopus 로고    scopus 로고
    • Late gestation cerebellar growth is rapid and impeded by premature birth
    • Limperopoulos C, Soul JS, Gauvreau K, et al. Late gestation cerebellar growth is rapid and impeded by premature birth. Pediatrics 2005; 115:688-695. This study demonstrates for the first time that cerebellar growth is particularly rapid in late gestation and far exceeds cerebral growth in preterm infants. However, when compared with that of healthy, term-born infants, cerebellar growth at term equivalent is impeded in preterm infants, even in the absence of demonstrable MRI abnormalities.
    • (2005) Pediatrics , vol.115 , pp. 688-695
    • Limperopoulos, C.1    Soul, J.S.2    Gauvreau, K.3
  • 40
    • 27544449394 scopus 로고    scopus 로고
    • Vermis and lateral lobes of the cerebellum in adolescents born very preterm
    • Allin MP, Salaria S, Nosarti C, et al. Vermis and lateral lobes of the cerebellum in adolescents born very preterm. Neuroreport 2005; 16:1821-1824. This study illustrates that adolescents born before 33 weeks of gestation have smaller cerebella than their term-born peers, and this cerebellar volume reduction is associated with impaired neuropsychological performance.
    • (2005) Neuroreport , vol.16 , pp. 1821-1824
    • Allin, M.P.1    Salaria, S.2    Nosarti, C.3
  • 41
    • 12344312163 scopus 로고    scopus 로고
    • MRI of the fetal posterior fossa
    • Adamsbaum C, Moutard ML, Andre C, et al. MRI of the fetal posterior fossa. Pediatr Radiol 2005; 35:124-140. This study highlights the high incidence of termination of pregnancy of fetuses diagnosed with posterior fossa malformations despite diagnostic uncertainties and prognostic limitations.
    • (2005) Pediatr Radiol , vol.35 , pp. 124-140
    • Adamsbaum, C.1    Moutard, M.L.2    Andre, C.3


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