메뉴 건너뛰기




Volumn 46, Issue 6, 2015, Pages 359-370

Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update

Author keywords

cerebellar atrophy; cerebellum; children; neuroimaging; pattern recognition

Indexed keywords

ATAXIA; BASAL GANGLION; BRAIN STEM; CEREBELLUM ATROPHY; CEREBELLUM CORTEX; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHECKLIST; DENTATE NUCLEUS; DIFFERENTIAL DIAGNOSIS; HUMAN; NEUROIMAGING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATTERN RECOGNITION; PRIORITY JOURNAL; REVIEW; ATROPHY; CEREBELLAR ATAXIA; CEREBELLUM DISEASE; CHILD; PATHOLOGY;

EID: 84948079996     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0035-1564620     Document Type: Review
Times cited : (42)

References (76)
  • 1
    • 42149107052 scopus 로고    scopus 로고
    • Differential diagnosis of cerebellar atrophy in childhood
    • Poretti A., Wolf N. I., Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol: 2008; 12 3 155 167
    • (2008) Eur J Paediatr Neurol , vol.12 , Issue.3 , pp. 155-167
    • Poretti, A.1    Wolf, N.I.2    Boltshauser, E.3
  • 2
    • 77957337158 scopus 로고    scopus 로고
    • Posterior fossa imaging in 158 children with ataxia
    • Boddaert N., Desguerre I., Bahi-Buisson N., et al. Posterior fossa imaging in 158 children with ataxia. J Neuroradiol: 2010; 37 4 220 230
    • (2010) J Neuroradiol , vol.37 , Issue.4 , pp. 220-230
    • Boddaert, N.1    Desguerre, I.2    Bahi-Buisson, N.3
  • 3
    • 84865631819 scopus 로고    scopus 로고
    • Diagnostic approach to childhood-onset cerebellar atrophy: A 10-year retrospective study of 300 patients
    • Al-Maawali A., Blaser S., Yoon G. Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol: 2012; 27 9 1121 1132
    • (2012) J Child Neurol , vol.27 , Issue.9 , pp. 1121-1132
    • Al-Maawali, A.1    Blaser, S.2    Yoon, G.3
  • 4
    • 84876357665 scopus 로고    scopus 로고
    • Inherited cerebellar ataxia in childhood: A pattern-recognition approach using brain MRI
    • S1-S2
    • Vedolin L., Gonzalez G., Souza C. F., Lourenço C., Barkovich A. J. Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI. AJNR Am J Neuroradiol: 2013; 34 5 925 934, S1-S2
    • (2013) AJNR Am J Neuroradiol , vol.34 , Issue.5 , pp. 925-934
    • Vedolin, L.1    Gonzalez, G.2    Souza, C.F.3    Lourenço, C.4    Barkovich, A.J.5
  • 5
    • 0035014223 scopus 로고    scopus 로고
    • Cerebellar imaging--an important signpost in paediatric neurology
    • Boltshauser E. Cerebellar imaging--an important signpost in paediatric neurology. Childs Nerv Syst: 2001; 17 4-5 211 216
    • (2001) Childs Nerv Syst , vol.17 , Issue.4-5 , pp. 211-216
    • Boltshauser, E.1
  • 7
    • 84925506378 scopus 로고    scopus 로고
    • Consensus paper: Radiological biomarkers of cerebellar diseases
    • Baldarçara L., Currie S., Hadjivassiliou M., et al. Consensus paper: radiological biomarkers of cerebellar diseases. Cerebellum: 2015; 14 2 175 196
    • (2015) Cerebellum , vol.14 , Issue.2 , pp. 175-196
    • Baldarçara, L.1    Currie, S.2    Hadjivassiliou, M.3
  • 8
    • 79961140109 scopus 로고    scopus 로고
    • Magnetic resonance and nuclear medicine imaging in ataxias
    • Mascalchi M., Vella A. Magnetic resonance and nuclear medicine imaging in ataxias. Handb Clin Neurol: 2012; 103 85 110
    • (2012) Handb Clin Neurol , vol.103 , pp. 85-110
    • Mascalchi, M.1    Vella, A.2
  • 9
    • 84906076173 scopus 로고    scopus 로고
    • Susceptibility-weighted imaging in pediatric neuroimaging
    • Bosemani T., Poretti A., Huisman T. A. Susceptibility-weighted imaging in pediatric neuroimaging. J Magn Reson Imaging: 2014; 40 3 530 544
    • (2014) J Magn Reson Imaging , vol.40 , Issue.3 , pp. 530-544
    • Bosemani, T.1    Poretti, A.2    Huisman, T.A.3
  • 10
    • 78650693958 scopus 로고    scopus 로고
    • Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
    • PCH Consortium
    • Namavar Y., Barth P. G., Kasher P. R., et al. PCH Consortium. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain: 2011; 134 Pt 1 143 156
    • (2011) Brain , vol.134 , pp. 143-156
    • Namavar, Y.1    Barth, P.G.2    Kasher, P.R.3
  • 11
    • 79960175586 scopus 로고    scopus 로고
    • Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia
    • Namavar Y., Barth P. G., Poll-The B. T., Baas F. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis: 2011; 6 50
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 50
    • Namavar, Y.1    Barth, P.G.2    Poll-The, B.T.3    Baas, F.4
  • 12
    • 84894504906 scopus 로고    scopus 로고
    • EXOSC3 mutations in pontocerebellar hypoplasia type 1: Novel mutations and genotype-phenotype correlations
    • Eggens V. R., Barth P. G., Niermeijer J. M., et al. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet J Rare Dis: 2014; 9 23
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 23
    • Eggens, V.R.1    Barth, P.G.2    Niermeijer, J.M.3
  • 13
    • 84863326111 scopus 로고    scopus 로고
    • Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
    • Glamuzina E., Brown R., Hogarth K., et al. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Metab Dis: 2012; 35 3 459 467
    • (2012) J Inherit Metab Dis , vol.35 , Issue.3 , pp. 459-467
    • Glamuzina, E.1    Brown, R.2    Hogarth, K.3
  • 14
    • 33644861122 scopus 로고    scopus 로고
    • Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
    • Patel M. S., Becker L. E., Toi A., Armstrong D. L., Chitayat D. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet A: 2006; 140 6 594 603
    • (2006) Am J Med Genet A , vol.140 , Issue.6 , pp. 594-603
    • Patel, M.S.1    Becker, L.E.2    Toi, A.3    Armstrong, D.L.4    Chitayat, D.5
  • 15
    • 79956307284 scopus 로고    scopus 로고
    • TSEN54 mutations cause pontocerebellar hypoplasia type 5
    • Namavar Y., Chitayat D., Barth P. G., et al. TSEN54 mutations cause pontocerebellar hypoplasia type 5. Eur J Hum Genet: 2011; 19 6 724 726
    • (2011) Eur J Hum Genet , vol.19 , Issue.6 , pp. 724-726
    • Namavar, Y.1    Chitayat, D.2    Barth, P.G.3
  • 16
    • 24344485189 scopus 로고    scopus 로고
    • Disruption of cerebellar development: Potential complication of extreme prematurity
    • Messerschmidt A., Brugger P. C., Boltshauser E., et al. Disruption of cerebellar development: potential complication of extreme prematurity. AJNR Am J Neuroradiol: 2005; 26 7 1659 1667
    • (2005) AJNR Am J Neuroradiol , vol.26 , Issue.7 , pp. 1659-1667
    • Messerschmidt, A.1    Brugger, P.C.2    Boltshauser, E.3
  • 17
    • 84872008381 scopus 로고    scopus 로고
    • Pontocerebellar hypoplasia in extreme prematurity: Clinical and neuroimaging findings
    • Zafeiriou D. I., Ververi A., Anastasiou A., Soubasi V., Vargiami E. Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings. Pediatr Neurol: 2013; 48 1 48 51
    • (2013) Pediatr Neurol , vol.48 , Issue.1 , pp. 48-51
    • Zafeiriou, D.I.1    Ververi, A.2    Anastasiou, A.3    Soubasi, V.4    Vargiami, E.5
  • 18
    • 84858809441 scopus 로고    scopus 로고
    • Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: Confirmation of a recognizable phenotype and first description of a male mosaic patient
    • Burglen L., Chantot-Bastaraud S., Garel C., et al. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis: 2012; 7 18
    • (2012) Orphanet J Rare Dis , vol.7 , pp. 18
    • Burglen, L.1    Chantot-Bastaraud, S.2    Garel, C.3
  • 19
    • 0037062626 scopus 로고    scopus 로고
    • Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study
    • Mascalchi M., Michelucci R., Cosottini M., et al. Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study. Neurology: 2002; 58 11 1686 1689
    • (2002) Neurology , vol.58 , Issue.11 , pp. 1686-1689
    • Mascalchi, M.1    Michelucci, R.2    Cosottini, M.3
  • 20
    • 77950593139 scopus 로고    scopus 로고
    • Paediatric and adult autosomal dominant ataxias (update 6)
    • Morrison P. J. Paediatric and adult autosomal dominant ataxias (update 6). Eur J Paediatr Neurol: 2010; 14 3 261 263
    • (2010) Eur J Paediatr Neurol , vol.14 , Issue.3 , pp. 261-263
    • Morrison, P.J.1
  • 21
    • 84870464151 scopus 로고    scopus 로고
    • The ever expanding spinocerebellar ataxias. Editorial
    • Matilla-Dueñas A. The ever expanding spinocerebellar ataxias. Editorial. Editorial Cerebellum: 2012; 11 4 821 827
    • (2012) Editorial Cerebellum , vol.11 , Issue.4 , pp. 821-827
    • Matilla-Dueñas, A.1
  • 22
    • 33847097159 scopus 로고    scopus 로고
    • Wolfram syndrome presenting marked brain MR imaging abnormalities with few neurologic abnormalities
    • Ito S., Sakakibara R., Hattori T. Wolfram syndrome presenting marked brain MR imaging abnormalities with few neurologic abnormalities. AJNR Am J Neuroradiol: 2007; 28 2 305 306
    • (2007) AJNR Am J Neuroradiol , vol.28 , Issue.2 , pp. 305-306
    • Ito, S.1    Sakakibara, R.2    Hattori, T.3
  • 23
    • 84892750162 scopus 로고    scopus 로고
    • PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
    • Synofzik M., Gonzalez M. A., Lourenco C. M., et al. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain: 2014; 137 Pt 1 69 77
    • (2014) Brain , vol.137 , pp. 69-77
    • Synofzik, M.1    Gonzalez, M.A.2    Lourenco, C.M.3
  • 24
    • 84871749391 scopus 로고    scopus 로고
    • The shrunken, bright cerebellum: A characteristic MRI finding in congenital disorders of glycosylation type 1a
    • Feraco P., Mirabelli-Badenier M., Severino M., et al. The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a. AJNR Am J Neuroradiol: 2012; 33 11 2062 2067
    • (2012) AJNR Am J Neuroradiol , vol.33 , Issue.11 , pp. 2062-2067
    • Feraco, P.1    Mirabelli-Badenier, M.2    Severino, M.3
  • 26
    • 68349096178 scopus 로고    scopus 로고
    • Morphological spectrum of prenatal cerebellar disruptions
    • Poretti A., Prayer D., Boltshauser E. Morphological spectrum of prenatal cerebellar disruptions. Eur J Paediatr Neurol: 2009; 13 5 397 407
    • (2009) Eur J Paediatr Neurol , vol.13 , Issue.5 , pp. 397-407
    • Poretti, A.1    Prayer, D.2    Boltshauser, E.3
  • 28
    • 0031775984 scopus 로고    scopus 로고
    • Cerebellar involvement in metabolic disorders: A pattern-recognition approach
    • Steinlin M., Blaser S., Boltshauser E. Cerebellar involvement in metabolic disorders: a pattern-recognition approach. Neuroradiology: 1998; 40 6 347 354
    • (1998) Neuroradiology , vol.40 , Issue.6 , pp. 347-354
    • Steinlin, M.1    Blaser, S.2    Boltshauser, E.3
  • 29
    • 0032935631 scopus 로고    scopus 로고
    • Infantile neuroaxonal dystrophy: Neuroradiological studies in 11 patients
    • Farina L., Nardocci N., Bruzzone M. G., et al. Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. Neuroradiology: 1999; 41 5 376 380
    • (1999) Neuroradiology , vol.41 , Issue.5 , pp. 376-380
    • Farina, L.1    Nardocci, N.2    Bruzzone, M.G.3
  • 30
    • 4143103871 scopus 로고    scopus 로고
    • Diffusion-weighted and conventional MR imaging findings of neuroaxonal dystrophy
    • Sener R. N. Diffusion-weighted and conventional MR imaging findings of neuroaxonal dystrophy. AJNR Am J Neuroradiol: 2004; 25 7 1269 1273
    • (2004) AJNR Am J Neuroradiol , vol.25 , Issue.7 , pp. 1269-1273
    • Sener, R.N.1
  • 31
    • 84901637005 scopus 로고    scopus 로고
    • PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
    • Illingworth M. A., Meyer E., Chong W. K., et al. PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. Mol Genet Metab: 2014; 112 2 183 189
    • (2014) Mol Genet Metab , vol.112 , Issue.2 , pp. 183-189
    • Illingworth, M.A.1    Meyer, E.2    Chong, W.K.3
  • 32
    • 11144254437 scopus 로고    scopus 로고
    • T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome
    • Harting I., Blaschek A., Wolf N. I., et al. T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome. Neurology: 2004; 63 12 2448 2449
    • (2004) Neurology , vol.63 , Issue.12 , pp. 2448-2449
    • Harting, I.1    Blaschek, A.2    Wolf, N.I.3
  • 33
    • 0041733622 scopus 로고    scopus 로고
    • New pattern of brain MRI lesions in isolated complex i deficiency
    • Wolf N. I., Seitz A., Harting I., et al. New pattern of brain MRI lesions in isolated complex I deficiency. Neuropediatrics: 2003; 34 3 156 159
    • (2003) Neuropediatrics , vol.34 , Issue.3 , pp. 156-159
    • Wolf, N.I.1    Seitz, A.2    Harting, I.3
  • 34
    • 84878944307 scopus 로고    scopus 로고
    • NUBPL mutations in patients with complex i deficiency and a distinct MRI pattern
    • Kevelam S. H., Rodenburg R. J., Wolf N. I., et al. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. Neurology: 2013; 80 17 1577 1583
    • (2013) Neurology , vol.80 , Issue.17 , pp. 1577-1583
    • Kevelam, S.H.1    Rodenburg, R.J.2    Wolf, N.I.3
  • 35
    • 84886179220 scopus 로고    scopus 로고
    • Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
    • Mignot C., Apartis E., Durr A., et al. Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. Orphanet J Rare Dis: 2013; 8 173
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 173
    • Mignot, C.1    Apartis, E.2    Durr, A.3
  • 36
    • 84905170121 scopus 로고    scopus 로고
    • Christianson syndrome: Spectrum of neuroimaging findings
    • Bosemani T., Zanni G., Hartman A. L., et al. Christianson syndrome: spectrum of neuroimaging findings. Neuropediatrics: 2014; 45 4 247 251
    • (2014) Neuropediatrics , vol.45 , Issue.4 , pp. 247-251
    • Bosemani, T.1    Zanni, G.2    Hartman, A.L.3
  • 37
    • 49749099671 scopus 로고    scopus 로고
    • Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex
    • Sakai K., Tada M., Yonemochi Y., et al. Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex. Neuropathology: 2008; 28 5 541 546
    • (2008) Neuropathology , vol.28 , Issue.5 , pp. 541-546
    • Sakai, K.1    Tada, M.2    Yonemochi, Y.3
  • 38
    • 77951898364 scopus 로고    scopus 로고
    • A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
    • Garbern J. Y., Neumann M., Trojanowski J. Q., et al. A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. Brain: 2010; 133 Pt 5 1391 1402
    • (2010) Brain , vol.133 , pp. 1391-1402
    • Garbern, J.Y.1    Neumann, M.2    Trojanowski, J.Q.3
  • 39
    • 80055026001 scopus 로고    scopus 로고
    • Genetic ablation of PLA2G6 in mice leads to cerebellar atrophy characterized by Purkinje cell loss and glial cell activation
    • Zhao Z., Wang J., Zhao C., Bi W., Yue Z., Ma Z. A. Genetic ablation of PLA2G6 in mice leads to cerebellar atrophy characterized by Purkinje cell loss and glial cell activation. PLoS ONE: 2011; 6 10 e26991
    • (2011) PLoS ONE , vol.6 , Issue.10 , pp. e26991
    • Zhao, Z.1    Wang, J.2    Zhao, C.3    Bi, W.4    Yue, Z.5    Ma, Z.A.6
  • 40
    • 34247128649 scopus 로고    scopus 로고
    • Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation
    • Biancheri R., Rossi A., Alpigiani G., et al. Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. Eur J Paediatr Neurol: 2007; 11 3 175 177
    • (2007) Eur J Paediatr Neurol , vol.11 , Issue.3 , pp. 175-177
    • Biancheri, R.1    Rossi, A.2    Alpigiani, G.3
  • 41
    • 70349957925 scopus 로고    scopus 로고
    • Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
    • Anheim M., Monga B., Fleury M., et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain: 2009; 132 Pt 10 2688 2698
    • (2009) Brain , vol.132 , pp. 2688-2698
    • Anheim, M.1    Monga, B.2    Fleury, M.3
  • 42
    • 84866143212 scopus 로고    scopus 로고
    • Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
    • Huang L., Chardon J. W., Carter M. T., et al. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. Orphanet J Rare Dis: 2012; 7 67
    • (2012) Orphanet J Rare Dis , vol.7 , pp. 67
    • Huang, L.1    Chardon, J.W.2    Carter, M.T.3
  • 43
    • 84864091034 scopus 로고    scopus 로고
    • Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability
    • Thevenon J., Lopez E., Keren B., et al. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. J Med Genet: 2012; 49 6 400 408
    • (2012) J Med Genet , vol.49 , Issue.6 , pp. 400-408
    • Thevenon, J.1    Lopez, E.2    Keren, B.3
  • 44
    • 0034193764 scopus 로고    scopus 로고
    • X-linked congenital ataxia: A clinical and genetic study
    • Bertini E., des Portes V., Zanni G., et al. X-linked congenital ataxia: a clinical and genetic study. Am J Med Genet: 2000; 92 1 53 56
    • (2000) Am J Med Genet , vol.92 , Issue.1 , pp. 53-56
    • Bertini, E.1    Des Portes, V.2    Zanni, G.3
  • 45
    • 84866000337 scopus 로고    scopus 로고
    • Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis
    • Zanni G., Calì T., Kalscheuer V. M., et al. Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci U S A: 2012; 109 36 14514 14519
    • (2012) Proc Natl Acad Sci U S A , vol.109 , Issue.36 , pp. 14514-14519
    • Zanni, G.1    Calì, T.2    Kalscheuer, V.M.3
  • 46
    • 73349095005 scopus 로고    scopus 로고
    • Intensive coordinative training improves motor performance in degenerative cerebellar disease
    • Ilg W., Synofzik M., Brötz D., Burkard S., Giese M. A., Schöls L. Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology: 2009; 73 22 1823 1830
    • (2009) Neurology , vol.73 , Issue.22 , pp. 1823-1830
    • Ilg, W.1    Synofzik, M.2    Brötz, D.3    Burkard, S.4    Giese, M.A.5    Schöls, L.6
  • 47
    • 84901259255 scopus 로고    scopus 로고
    • Motor training in degenerative spinocerebellar disease: Ataxia-specific improvements by intensive physiotherapy and exergames
    • Synofzik M., Ilg W. Motor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergames. Biomed Res Int: 2014; 2014 583507
    • (2014) Biomed Res Int , vol.2014 , pp. 583507
    • Synofzik, M.1    Ilg, W.2
  • 48
    • 84902544433 scopus 로고    scopus 로고
    • Cerebellar hypoplasia: Differential diagnosis and diagnostic approach
    • Poretti A., Boltshauser E., Doherty D. Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet: 2014; 166C 2 211 226
    • (2014) Am J Med Genet C Semin Med Genet , vol.166 C , Issue.2 , pp. 211-226
    • Poretti, A.1    Boltshauser, E.2    Doherty, D.3
  • 49
    • 14844293217 scopus 로고    scopus 로고
    • Non-progressive congenital ataxia with cerebellar hypoplasia in three families
    • Yapici Z., Eraksoy M. Non-progressive congenital ataxia with cerebellar hypoplasia in three families. Acta Paediatr: 2005; 94 2 248 253
    • (2005) Acta Paediatr , vol.94 , Issue.2 , pp. 248-253
    • Yapici, Z.1    Eraksoy, M.2
  • 50
    • 33645238714 scopus 로고    scopus 로고
    • Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p
    • Türkmen S., Demirhan O., Hoffmann K., et al. Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. J Med Genet: 2006; 43 5 461 464
    • (2006) J Med Genet , vol.43 , Issue.5 , pp. 461-464
    • Türkmen, S.1    Demirhan, O.2    Hoffmann, K.3
  • 51
    • 84891630405 scopus 로고    scopus 로고
    • Cerebellar cortical lamination and foliation require cyclin A2
    • Otero J. J., Kalaszczynska I., Michowski W., et al. Cerebellar cortical lamination and foliation require cyclin A2. Dev Biol: 2014; 385 2 328 339
    • (2014) Dev Biol , vol.385 , Issue.2 , pp. 328-339
    • Otero, J.J.1    Kalaszczynska, I.2    Michowski, W.3
  • 52
    • 2942694514 scopus 로고    scopus 로고
    • Cerebellar vermian atrophy after neonatal hypoxic-ischemic encephalopathy
    • Sargent M. A., Poskitt K. J., Roland E. H., Hill A., Hendson G. Cerebellar vermian atrophy after neonatal hypoxic-ischemic encephalopathy. AJNR Am J Neuroradiol: 2004; 25 6 1008 1015
    • (2004) AJNR Am J Neuroradiol , vol.25 , Issue.6 , pp. 1008-1015
    • Sargent, M.A.1    Poskitt, K.J.2    Roland, E.H.3    Hill, A.4    Hendson, G.5
  • 53
    • 4444225086 scopus 로고    scopus 로고
    • MRI findings in acute cerebellitis
    • De Bruecker Y., Claus F., Demaerel P., et al. MRI findings in acute cerebellitis. Eur Radiol: 2004; 14 8 1478 1483
    • (2004) Eur Radiol , vol.14 , Issue.8 , pp. 1478-1483
    • De Bruecker, Y.1    Claus, F.2    Demaerel, P.3
  • 54
    • 0032955860 scopus 로고    scopus 로고
    • Infratentorial atrophy on magnetic resonance imaging and disability in multiple sclerosis
    • Edwards S. G., Gong Q. Y., Liu C., et al. Infratentorial atrophy on magnetic resonance imaging and disability in multiple sclerosis. Brain: 1999; 122 Pt 2 291 301
    • (1999) Brain , vol.122 , pp. 291-301
    • Edwards, S.G.1    Gong, Q.Y.2    Liu, C.3
  • 55
    • 33947584670 scopus 로고    scopus 로고
    • Cerebellar atrophy after moderate-to-severe pediatric traumatic brain injury
    • Spanos G. K., Wilde E. A., Bigler E. D., et al. cerebellar atrophy after moderate-to-severe pediatric traumatic brain injury. AJNR Am J Neuroradiol: 2007; 28 3 537 542
    • (2007) AJNR Am J Neuroradiol , vol.28 , Issue.3 , pp. 537-542
    • Spanos, G.K.1    Wilde, E.A.2    Bigler, E.D.3
  • 57
    • 16844385130 scopus 로고    scopus 로고
    • Neuropathology of CNS disease in Langerhans cell histiocytosis
    • CNS LCH Co-operative Group
    • Grois N., Prayer D., Prosch H., Lassmann H.; CNS LCH Co-operative Group. Neuropathology of CNS disease in Langerhans cell histiocytosis. Brain: 2005; 128 Pt 4 829 838
    • (2005) Brain , vol.128 , pp. 829-838
    • Grois, N.1    Prayer, D.2    Prosch, H.3    Lassmann, H.4
  • 58
    • 33847160664 scopus 로고    scopus 로고
    • Long-term outcome of ten children with opsoclonus-myoclonus syndrome
    • Klein A., Schmitt B., Boltshauser E. Long-term outcome of ten children with opsoclonus-myoclonus syndrome. Eur J Pediatr: 2007; 166 4 359 363
    • (2007) Eur J Pediatr , vol.166 , Issue.4 , pp. 359-363
    • Klein, A.1    Schmitt, B.2    Boltshauser, E.3
  • 60
    • 0030883125 scopus 로고    scopus 로고
    • Persistence of neurological damage induced by dietary Vitamin B-12 deficiency in infancy
    • von Schenck U., Bender-Götze C., Koletzko B. Persistence of neurological damage induced by dietary vitamin B-12 deficiency in infancy. Arch Dis Child: 1997; 77 2 137 139
    • (1997) Arch Dis Child , vol.77 , Issue.2 , pp. 137-139
    • Von Schenck, U.1    Bender-Götze, C.2    Koletzko, B.3
  • 61
    • 1442287869 scopus 로고    scopus 로고
    • Other cerebellotoxic agents
    • Manto M.U. Pandolfo M. eds 1st ed Cambridge, United Kingdom Cambridge University Press
    • Manto M. U., Jacquy J. Other cerebellotoxic agents. In: Manto M. U., Pandolfo M. eds. The Cerebellum and its Disorders. 1st ed. Cambridge, United Kingdom Cambridge University Press: 2001; 342 347
    • (2001) The Cerebellum and Its Disorders , pp. 342-347
    • Manto, M.U.1    Jacquy, J.2
  • 63
    • 3042600280 scopus 로고    scopus 로고
    • Alcoholic cerebellar degeneration (including ataxias that are due to other toxic causes)
    • Klockgether T. ed. New York, NY Marcel Dekker, Inc
    • Timmann-Braun D., Diener H. C. Alcoholic cerebellar degeneration (including ataxias that are due to other toxic causes). In: Klockgether T. ed. Handbook of ataxia disorders. New York, NY Marcel Dekker, Inc: 2000; 571 605
    • (2000) Handbook of Ataxia Disorders , pp. 571-605
    • Timmann-Braun, D.1    Diener, H.C.2
  • 64
    • 84900309841 scopus 로고    scopus 로고
    • Hemicerebellitis: Report of three paediatric cases and review of the literature
    • Carceller Lechón F., Duat Rodríguez A., Sirvent Cerdá S. I., et al. Hemicerebellitis: Report of three paediatric cases and review of the literature. Eur J Paediatr Neurol: 2014; 18 3 273 281
    • (2014) Eur J Paediatr Neurol , vol.18 , Issue.3 , pp. 273-281
    • Carceller Lechón, F.1    Duat Rodríguez, A.2    Sirvent Cerdá, S.I.3
  • 65
    • 2342648812 scopus 로고    scopus 로고
    • Cerebellar infarction in adolescent males associated with acute marijuana use
    • Geller T., Loftis L., Brink D. S. Cerebellar infarction in adolescent males associated with acute marijuana use. Pediatrics: 2004; 113 4 e365 e370
    • (2004) Pediatrics , vol.113 , Issue.4 , pp. e365-e370
    • Geller, T.1    Loftis, L.2    Brink, D.S.3
  • 66
    • 84859192664 scopus 로고    scopus 로고
    • Crossed cerebellar diaschisis after status epilepticus in a young child
    • Koy A., Klee D., Weber A. A., Karenfort M., Mayatepek E. Crossed cerebellar diaschisis after status epilepticus in a young child. Neuropediatrics: 2012; 43 2 55 58
    • (2012) Neuropediatrics , vol.43 , Issue.2 , pp. 55-58
    • Koy, A.1    Klee, D.2    Weber, A.A.3    Karenfort, M.4    Mayatepek, E.5
  • 67
    • 84986192582 scopus 로고    scopus 로고
    • Progressive left sided cerebellar atrophy and intermittend CSWS-like EEG. It is Rasmussen encephalitis?
    • Strobl K., Schroter C., Wierner-Kruel A. Progressive left sided cerebellar atrophy and intermittend CSWS-like EEG. It is Rasmussen encephalitis? Neuropediatrics: 2006; 37 (S5) P65
    • (2006) Neuropediatrics , vol.37 , Issue.S5 , pp. P65
    • Strobl, K.1    Schroter, C.2    Wierner-Kruel, A.3
  • 68
    • 54049142098 scopus 로고    scopus 로고
    • Friedreich ataxia
    • Pandolfo M. Friedreich ataxia. Arch Neurol: 2008; 65 10 1296 1303
    • (2008) Arch Neurol , vol.65 , Issue.10 , pp. 1296-1303
    • Pandolfo, M.1
  • 69
    • 84893842653 scopus 로고    scopus 로고
    • Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with Vitamin E deficiency
    • El Euch-Fayache G., Bouhlal Y., Amouri R., Feki M., Hentati F. Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. Brain: 2014; 137 Pt 2 402 410
    • (2014) Brain , vol.137 , pp. 402-410
    • El Euch-Fayache, G.1    Bouhlal, Y.2    Amouri, R.3    Feki, M.4    Hentati, F.5
  • 70
    • 12344319254 scopus 로고    scopus 로고
    • Infantile Refsum disease: Serial evaluation with MRI
    • Cakirer S., Savas M. R. Infantile Refsum disease: serial evaluation with MRI. Pediatr Radiol: 2005; 35 2 212 215
    • (2005) Pediatr Radiol , vol.35 , Issue.2 , pp. 212-215
    • Cakirer, S.1    Savas, M.R.2
  • 71
    • 84898754615 scopus 로고    scopus 로고
    • Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia
    • Nagappa M., Bindu P. S., Adwani S., et al. Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia. Ann Indian Acad Neurol: 2014; 17 1 113 116
    • (2014) Ann Indian Acad Neurol , vol.17 , Issue.1 , pp. 113-116
    • Nagappa, M.1    Bindu, P.S.2    Adwani, S.3
  • 72
    • 27144454384 scopus 로고    scopus 로고
    • Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: A 2- to 5-year follow-up of 15 children enrolled prospectively
    • Klepper J., Scheffer H., Leiendecker B., et al. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics: 2005; 36 5 302 308
    • (2005) Neuropediatrics , vol.36 , Issue.5 , pp. 302-308
    • Klepper, J.1    Scheffer, H.2    Leiendecker, B.3
  • 73
    • 0031545925 scopus 로고    scopus 로고
    • Congenital ocular motor apraxia: Imaging findings
    • Sargent M. A., Poskitt K. J., Jan J. E. Congenital ocular motor apraxia: imaging findings. AJNR Am J Neuroradiol: 1997; 18 10 1915 1922
    • (1997) AJNR Am J Neuroradiol , vol.18 , Issue.10 , pp. 1915-1922
    • Sargent, M.A.1    Poskitt, K.J.2    Jan, J.E.3
  • 74
    • 12744269033 scopus 로고    scopus 로고
    • Neurological aspects of the Angelman syndrome
    • Williams C. A. Neurological aspects of the Angelman syndrome. Brain Dev: 2005; 27 2 88 94
    • (2005) Brain Dev , vol.27 , Issue.2 , pp. 88-94
    • Williams, C.A.1
  • 75
    • 0035196391 scopus 로고    scopus 로고
    • Neuroimaging studies in Rett syndrome
    • Naidu S., Kaufmann W. E., Abrams M. T., et al. Neuroimaging studies in Rett syndrome. Brain Dev: 2001; 23 01 S62 S71
    • (2001) Brain Dev , vol.23 , Issue.1 , pp. S62-S71
    • Naidu, S.1    Kaufmann, W.E.2    Abrams, M.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.