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Handbook of the Cerebellum and Cerebellar Disorders pp 1–23Cite as

Cerebellar Agenesis

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Abstract

Cerebellar agenesis is an extremely rare condition in which patients show minute cerebellar tissue, usually corresponding to remnants of the lower cerebellar peduncles, anterior vermal lobules, and flocculi. Clinical presentation of cerebellar agenesis may cover a broad phenotypic spectrum of disabilities including not only motor disorders but also cognitive abilities, language disabilities, and affective disorders. The severity and range of motor, cognitive, and psychiatric impairments appears to be correlated with the earliness, localization, and extent of the agenesis of the cerebellum. Patients with congenital malformations display, for example, a more severe and less specific impairment than patients with acquired cerebellar lesions in adult life. The most severe clinical picture is one of patients with involvement of the phylogenetically most ancient structures (complete or partial cerebellar vermis agenesis) as they display severe pervasive impairments in social and communication skills (autism or autistic-like behavior) and in behavior modulation (self-injury and aggressiveness) and marked delays in language acquisition, especially in language comprehension. On the contrary, when the lesions are confined to phylogenetically more recent structures such as cerebellar hemispheres, the clinical picture is characterized by mild cognitive impairment or borderline IQ, good social functioning, and context adjustment abilities with a more favorable prognosis.

In conclusion, it is possible to argue that cerebellar agenesis, in spite of having an extraordinary neuroradiological picture, is a clinical condition compatible with a productive although limited life, especially if the affected person has the opportunity to undergo a rehabilitation program at an early stage of his life.

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References

  • Aldinger KA, Doherty D (2016) The genetics of cerebellar malformations. Semin Fetal Neonatal Med 21:321–332

    Article  PubMed  PubMed Central  Google Scholar 

  • Aldinger KA, Lehmann OJ, Hudgins L et al (2009) FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p24.3 Dandy-Walker malformation. Nat Genet 41:1037–1042

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Alkan O, Kizilkilic O, Yildirim T (2009) Malformations of the midbrain and hindbrain: a retrospective study and review of the literature. Cerebellum 8:355–365

    Article  PubMed  Google Scholar 

  • Al-Shammari M, Al-Husain M, Al-Kharfy T, Alkuraya FS (2011) A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. Clin Genet 80:196–198

    Article  CAS  PubMed  Google Scholar 

  • Altman NR, Naidich TP, Braffman BH (1992) Posterior fossa malformations. Am J Neuroradiol 13:691–724

    CAS  PubMed  Google Scholar 

  • Anton E, Zingerle H (1914) Genaue Beschreibung eines. Falles von beiderseitigem. Kleinhimmangel. Arch Psychiatr Berl 54:8–75

    Article  Google Scholar 

  • Arrigoni F, Romaniello R, Nordio A et al (2015) Learning to live without the cerebellum. Neuroreport 26:809–813

    Article  PubMed  Google Scholar 

  • Ashraf O, Jabeen S, Khan A, Shaheen F (2016) Primary cerebellar agenesis presenting as isolated cognitive impairment. J Pediatr Neurosci 11:150–152

    Article  PubMed  PubMed Central  Google Scholar 

  • Baker RC, Graves GO (1931) Cerebellar agenesis. Arch Neurol Psychiatr 25:548–555

    Article  Google Scholar 

  • Ballarati L, Rossi E, Bonati MT et al (2007) 13q deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet 44:e60

    Article  PubMed  PubMed Central  Google Scholar 

  • Baraitser M (1990) Cerebellar syndromes. In: Baraitser M (ed) The genetics of neurological disorders, 2nd edn. Oxford University Press, Oxford

    Google Scholar 

  • Barkovich AJ (1998) Neuroimaging manifestations and classification of congenital muscular dystrophies. Am J Neuroradiol 19:1389–1396

    CAS  PubMed  Google Scholar 

  • Barkovich AJ, Frieden I, Williams M (1994) MR of neurocutaneous melanosis. Am J Neuroradiol 15:859–867

    CAS  PubMed  Google Scholar 

  • Barkovich AJ, Millen KJ, Dobyns WB (2007) A developmental classification of malformations of the brainstem. Ann Neurol 62:625–639

    Article  PubMed  Google Scholar 

  • Barkovich AJ, Millen KJ, Dobyns WB (2009) A developmental and genetic classification for midbrain-hindbrain malformations. Brain 132:3199–3230

    Article  PubMed  PubMed Central  Google Scholar 

  • Barth PG (2000) Pontocerebellar hypoplasia-how many types? Eur J Paediatr Neurol 4:161–162

    Article  CAS  PubMed  Google Scholar 

  • Beaton A, Mariën P (2010) Language, cognition and cerebellum: grappling with an enigma. Cortex 46(7):811–820

    Article  PubMed  Google Scholar 

  • Bellini C, Massocco D, Serra G (2000) Prenatal cocaine exposure and the expanding spectrum of brain malformations. Arch Intern Med 160:2393

    Article  CAS  PubMed  Google Scholar 

  • Boland E, Clayton-Smith J, Woo VG et al (2007) Mapping of deletion and translocation breakpoints in q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of corpus callosum. Am J Hum Genet 81:292–303

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bolduc ME, Du Plessis AJ, Sullivan N (2011) Spectrum of neurodevelopmental disabilities in children with cerebellar malformations. Dev Med Child Neurol 53:409–416

    Article  PubMed  Google Scholar 

  • Boltshauser E (2004) Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet 126A:376–385

    Article  PubMed  Google Scholar 

  • Boltshauser E (2008) Cerebellar hypoplasias. Disorders of segmentation of the neural tube. In: Handbook of clinical neurology, vol 87 (3rd series). Malformation of the nervous system (Ed Elsevier)

    Google Scholar 

  • Borgatti R, Tavano A, Cristofori G et al (2004) Language development in children with cerebellar malformations. In: Fabbro F (ed) Neurogenic language disorders in children. Elsevier, Amsterdam

    Google Scholar 

  • Borrell H (1884) Cerebellar agenesis. Arch f Psychiatr 15:286

    Google Scholar 

  • Bosemani T, Poretti A (2016) Cerebellar disruptions and neurodevelopmental disabilities. Semin Fetal Neonatal Med 21:339–348

    Article  PubMed  Google Scholar 

  • Botez-Marquard T, Leveillé J, Botez MI (1994) Neuropsychological functioning in unilateral cerebellar damage. Can J Neurol Sci 21:353–357

    Article  CAS  PubMed  Google Scholar 

  • Boyd JD (1940) A case of neocerebellar hypoplasia. J Anat 74:557

    Google Scholar 

  • Boyd CA (2009) Cerebellar agenesis revisited. Brain 133:941–944

    Article  PubMed  Google Scholar 

  • Brielmaier J (2016) The woman born without a cerebellum: a real-life case adapted for use in an undergraduate developmental and systems neuroscience course. J Undergrad Neurosci Educ 15(1):C1–C3. eCollection 2016 Fall

    PubMed  PubMed Central  Google Scholar 

  • Buckner RL (2013) The cerebellum and cognitive function: 25 years of insight from anatomy and neuroimaging. Neuron 80:807–815

    Article  CAS  PubMed  Google Scholar 

  • Casartelli L, Federici A, Cesareo A et al (2017) Role of the cerebellum in high stages of motor planning hierarchy. J Neurophysiol 117:1474–1482

    Article  PubMed  PubMed Central  Google Scholar 

  • Casartelli L, Riva M, Villa L, Borgatti R (2018) Insights from perceptual, sensory, and motor functioning in autism and cerebellar primary disturbances: are there reliable markers for these disorders? Neurosci Biobehav Rev 95:263–279

    Article  Google Scholar 

  • Chang B, Piao X, Bodell A et al (2003) Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol 53:596–606

    Article  CAS  PubMed  Google Scholar 

  • Chedda MG, Sherman JC, Schmahmann JD (2002) Neurology, psychiatric and cognitive manifestations in cerebellar agenesis. Neurology 58:A356

    Google Scholar 

  • Chen CP, Chen CP, Shih JC (2005) Association of partial trisomy 9p and the Dandy Walker malformation. Am J Med Genet 132A:111–112

    Article  PubMed  Google Scholar 

  • Clouchoux C, Guizard N, Evans AC et al (2012) Normative fetal brain growth by quantitative in vivo magnetic resonance imaging. Am J Obstet Gynecol 206:173.e1e8

    Article  Google Scholar 

  • Cohen I (1942) Agenesis of the cerebellum (verified by operation). J Mt. Sinai Hosp 8:441–446

    Google Scholar 

  • Combettes M (1831) Absence complète du cervelet, des pédoncules postérieurs et de la protubérance cérébrale chez une jeune fille morte dans sa onzième anneé. Bull Soc Anat de Paris 5:148–157

    Google Scholar 

  • Cordes SP (2001) Molecular genetics of cranial nerve development in mouse. Nat Rev Neurosci 2:611–623

    Article  CAS  PubMed  Google Scholar 

  • Cotes C, Bonfante E, Lazor J et al (2015) Congenital basis of posterior fossa anomalies. Neuroradiol J 28:238–253

    Article  PubMed  PubMed Central  Google Scholar 

  • Courchesne E (1997) Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism. Curr Opin Neurobiol 7:269–278

    Article  CAS  PubMed  Google Scholar 

  • Courchesne E, Townsend J, Akshoomoff NA et al (1994) Impairment in shifting attention in autistic and cerebellar patients. Behav Neurosci 108:848–865

    Article  CAS  PubMed  Google Scholar 

  • D’Mello AM, Stoodley CJ (2015) Cerebro-cerebellar circuits in autism spectrum disorder. Front Neurosci 9:408

    PubMed  PubMed Central  Google Scholar 

  • Dahlem K, Valko Y, Schmahmann JD, Lewis RF (2016) Cerebellar contributions to self-motion perception: evidence from patients with congenital cerebellar agenesis. J Neurophysiol 115:2280–2285

    Article  PubMed  PubMed Central  Google Scholar 

  • Davis EE, Pitchford NJ, Jaspan T et al (2010) Development of cognitive and motor function following cerebellar tumour injury sustained in early childhood. Cortex 46:919–932

    Article  PubMed  Google Scholar 

  • Dhillon AS, Chapman S, Milford DV (2001) Cerebellar defect associated with Schimke immune-osseous dysplasia. Eur J Pediatr 160:372–274

    Article  CAS  PubMed  Google Scholar 

  • Doherty D, Millen KJ, Barkovich AJ (2013) Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. Lancet Neurol 12:381–393

    Article  PubMed  PubMed Central  Google Scholar 

  • Fabbro F (2000) Introduction to language and cerebellum. J Neurolinguistics 13:83–94

    Article  Google Scholar 

  • Fabbro F, Tavano A, Corti S et al (2004) Long-term neuropsychological deficits after cerebellar infarctions in two young twins. Neuropsychologia 42:536–545

    Article  CAS  PubMed  Google Scholar 

  • Ferrier D (1876) The functions of the brain, Chapter VI. In: Functions of the cerebellum. Smith, Elder, London

    Chapter  Google Scholar 

  • Fiez JA, Petersen SE, Cheney MK et al (1992) Impaired non-motor learning and error detection associated with cerebellar damage. Brain 115:155–168

    Article  PubMed  Google Scholar 

  • Freeze HH (2001) Update and perspective on congenital disorders of glycosylation. Glycobiology 11:129R–143R

    Article  CAS  PubMed  Google Scholar 

  • Fusari R (1891) Note sur quelques cas d’atrophie et d’hypertrophie du cervelet. Mem v Accad d sc d Inst Bologna 2:643–658

    Google Scholar 

  • Gabbay M, Ellard S, De Franco E, Moisés RS (2017) Pancreatic agenesis due to compound heterozygosity for a novel enhancer and truncating mutation in the PTF1A gene. J Clin Res Pediatr Endocrinol 9:274–277

    Article  PubMed  PubMed Central  Google Scholar 

  • Gardner RJM, Coleman LT, Mitchell LA et al (2001) Near-total absence of the cerebellum. Neuropediatrics 32:62–68

    Article  CAS  PubMed  Google Scholar 

  • Gelal FM, Kalaycı TÖ, Çelebisoy M (2016) Clinical and MRI findings of cerebellar agenesis in two living adult patients. Ann Indian Acad Neurol 19:255–257

    Article  PubMed  PubMed Central  Google Scholar 

  • Gilbert C, Coleman M (1992) The biology of the autistic syndromes. McKeit Press, London

    Google Scholar 

  • Glickstein M (1994) Cerebellar agenesis. Brain 117:1209–1212

    Article  PubMed  Google Scholar 

  • Goldowitz D, Hamre K (1998) The cells and molecules that make a cerebellum. Trends Neurosci 21:375–382

    Article  CAS  PubMed  Google Scholar 

  • Gordon N (2007) The cerebellum and cognition. Eur J Paediatr Neurol 11:232–234

    Article  PubMed  Google Scholar 

  • Grinberg I, Millen KJ (2005) The ZIC gene family in development and disease. Clin Genet 67:290–296

    Article  CAS  PubMed  Google Scholar 

  • Herholz K, Thiel A, Wienhard W et al (1996) Individual functional anatomy of verb generation. NeuroImage 3:185–194

    Article  CAS  PubMed  Google Scholar 

  • Hill AD, Chang BS, Hill RS et al (2007) A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet 143A:1692–1698

    Article  CAS  PubMed  Google Scholar 

  • Hong SE, Shugart YY, Huang DT et al (2000) Autosomal recessive lissencephaly with cerebellar hypoplasia (LCH) is associated with human reelin gene mutations. Nat Genet 26:93–96

    Article  CAS  PubMed  Google Scholar 

  • Houghton JA, Swift GH, Shaw-Smith C et al (2016) Isolated pancreatic aplasia due to a hypomorphic PTF1A mutation. Diabetes 65:2810–2815

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hoveyda N, Shield JP, Garrett C et al (1999) Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome. J Med Genet 36:700–704

    CAS  PubMed  PubMed Central  Google Scholar 

  • Huissoud C, Rudigoz RC, Bisch C et al (2009) Complete cerebellar agenesis: a very rare abnormality of the posterior fossa. Ultrasound Obstet Gynecol 33:730–731

    Article  CAS  PubMed  Google Scholar 

  • Jacob FD, Goez HR (2011) Preservation of language in the ataxic infant in a case of cerebellar agenesis. Can J Neurol Sci 38:143–144

    Article  PubMed  Google Scholar 

  • Jalali A, Aldinger J, Chary A et al (2008) Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet 123:237–245

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Jansen A, Floel A, Van Randenborgh J et al (2005) Crossed cerebro-cerebellar language dominance. Hum Brain Mapp 24:165–172

    Article  PubMed  Google Scholar 

  • Karmiloff-Smith A (1995) Beyond modularity: a developmental perspective on cognitive science. MIT Press, Cambridge, MA

    Book  Google Scholar 

  • Kier G, Winchester BG, Clayton P (1999) Carbohydrate deficient glycoprotein syndromes: inborn errors of protein glycosylation. Ann Clin Biochem 36:20–36

    Article  Google Scholar 

  • Kim SG, Ugurbil K, Strick PL (1994) Activation of a cerebellar output nucleus during cognitive processing. Science 265:949–951

    Article  CAS  PubMed  Google Scholar 

  • Kirschen MP, Davis-Ratner MS, Milner MW (2008) Verbal memory impairments in children after cerebellar tumor resection. Behav Neurol 20:39–53

    Article  PubMed  Google Scholar 

  • Laforce R Jr, Doyon J (2001) Distinct contribution of the striatum and cerebellum to motor learning. Brain Cogn 45:189–211

    Article  PubMed  Google Scholar 

  • Laforce R Jr, Doyon J (2002) Differential role for the striatum and cerebellum in response to novel movements using a motor learning paradigm. Neuropsychologia 40:512–517

    Article  PubMed  Google Scholar 

  • Leech RW, Johnson SH, Brumback RA (1997) Agenesis of cerebellum associated with arhinencephaly. Clin Neuropathol 16:90–97

    CAS  PubMed  Google Scholar 

  • Leestma JE, Torres JV (2000) Unappreciated agenesis of cerebellum in an adult. Am J of Forensic Med Pathol 21:155–161

    Article  CAS  Google Scholar 

  • Leiner HC, Leiner AL, Dow RS (1991) The human cerebro-cerebellar system: its computing, cognitive and language skills. Behav Brain Res 44:113–128

    Article  CAS  PubMed  Google Scholar 

  • Lemon RN, Edgley SA (2010) Life without a cerebellum. Brain 133:652–654

    Article  CAS  PubMed  Google Scholar 

  • Leto K, Arancillo M, Becker EB (2016) Consensus paper: cerebellar development. Cerebellum 15:789–828

    Article  PubMed  Google Scholar 

  • Levisohn L, Cronin-Golomb A, Schmahmann JD (2000) Neuropsychological consequences of cerebellar tumor resection in children: cerebellar cognitive affective syndrome in a paediatric population. Brain 123:1041–1050

    Article  PubMed  Google Scholar 

  • Leyden E (1876) Citation in Stewart RM (1956) Cerebellar agenesis. J Ment Sci 102:67–77

    Google Scholar 

  • Limperopoulos C, Soul JS, Gauvreau K et al (2005) Late gestation cerebellar growth is rapid and impeded by premature birth. Pediatrics 115:688–695

    Article  PubMed  Google Scholar 

  • Limperopoulos C, Bassan H, Gauvreau K et al (2007) Does cerebellar injury in premature infants contribute to the high prevalence of long-term cognitive, learning, and behavioral disability in survivors? Pediatrics 120:584–593

    Article  PubMed  Google Scholar 

  • Limperopoulos C, Chilingaryan G, Guizard N et al (2010) Cerebellar injury in the premature infant is associated with impaired growth of specific cerebral regions. Pediatr Res 68:145–150

    Article  PubMed  Google Scholar 

  • Loeser JD, Lemire RJ, Alvord J (1972) The development of the folia in the human cerebellar vermis. Anat Rec 173:109–114

    Article  CAS  PubMed  Google Scholar 

  • Mariën P, Engelborghs S, Fabbro F et al (2001) The lateralized linguistic cerebellum: a review and a new hypothesis. Brain Lang 79:580–600

    Article  PubMed  Google Scholar 

  • McCormack WM, Shen JJ, Curry SM et al (2003) Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet 118:384–389

    Google Scholar 

  • Melaragno MI, Brunoni D, Patricio FR et al (1992) A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann Genet 35:79–84

    CAS  PubMed  Google Scholar 

  • Meola A, Fernandez-Miranda JC (2015) Peduncles without cerebellum: the cerebellar agenesis. Eur Neurol 74(3–4):162. https://doi.org/10.1159/000441055. Epub 2015 Oct 10

    Article  PubMed  Google Scholar 

  • Micalizzi A, Poretti A, Romani M (2016) Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). Eur J Hum Genet 24:1262–1267

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Millen KJ, Steshina EY, Iskusnykh IY, Chizhikov VV (2014) Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function. Proc Natl Acad Sci U S A 111:E1777–E1786

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Miyata H, Chute DJ, Fink J et al (2004) Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. Acta Neuropathol 107:69–81

    Article  PubMed  Google Scholar 

  • Moberget T, Andersson S, Lundar T et al (2015) Long-term supratentorial brain structure and cognitive function following cerebellar tumour resections in childhood. Neuropsychologia 69:218–231

    Article  CAS  PubMed  Google Scholar 

  • Mormina E, Briguglio M, Morabito R (2016) A rare case of cerebellar agenesis: a probabilistic constrained spherical deconvolution tractographic study. Brain Imaging Behav 10:158–167

    Article  PubMed  Google Scholar 

  • Murdoch BE (2010) The cerebellum and language: historical perspective and review. Cortex 46(7):858–868

    Article  PubMed  Google Scholar 

  • Najm J, Horn D, Wimplinger I et al (2008) Mutation of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet 40:1065–1067

    Article  CAS  PubMed  Google Scholar 

  • Niesen CE (2002) Malformations of the posterior fossa: current perspectives. Semin Pediatr Neurol 9:320–334

    Article  PubMed  Google Scholar 

  • Nowak DA, Timmann D, Hermsdorfer J (2007) Dexterity in cerebellar agenesis. Neuropsychologia 45:696–703

    Article  PubMed  Google Scholar 

  • Oegema R, Cushion TD, Phelps IG et al (2015) Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet 24:5313–5325

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Parisi MA, Dobyns WB (2003) Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab 80:36–53

    Article  CAS  PubMed  Google Scholar 

  • Patel S, Barkovich AJ (2002) Analysis and classification of cerebellar malformations. Am J Neuroradiol 23:1074–1087

    PubMed  Google Scholar 

  • Petersen SE, Fiez JA (1993) The processing of single words studied with positron emission tomography. Annu Rev Neurosci 16:509

    Article  CAS  PubMed  Google Scholar 

  • Petersen SE, Fox PT, Posner MI et al (1989) Positron emission tomographic studies of the processing of single words. J Cogn Neurosci 1:153–170

    Article  CAS  PubMed  Google Scholar 

  • Philphot J, Pennock J, Cowan F et al (2000) Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. Eur J Paediatr Neurol 4:109–114

    Article  Google Scholar 

  • Poretti A (2011) Cognitive functions in children with cerebellar malformations. Dev Med Child Neurol 53:389

    Article  PubMed  Google Scholar 

  • Poretti A, Boltshauser E (2015) Terminology in morphological anomalies of the cerebellum does matter. Cerebellum Ataxias 2:8

    Article  PubMed  PubMed Central  Google Scholar 

  • Poretti A, Boltshauser E, Huisman TA (2016) Cerebellar and brainstem malformations. Neuroimaging Clin N Am 26:341–357

    Article  PubMed  Google Scholar 

  • Poretti A, Prayer D, Boltshauser E (2009) Morphological spectrum of prenatal cerebellar disruption. Eur J Paediatr Neurol 13:397–407

    Article  PubMed  Google Scholar 

  • Poretti A, Risen S, Meoded A et al (2013) Cerebellar agenesis: an extreme form of cerebellar disruption in preterm neonates. J Pediatr Neuroradiol 2:163–167

    Article  Google Scholar 

  • Poretti A, Wolf NI, Boltshauuser E (2008) Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol 12(3):155–167

    Article  PubMed  Google Scholar 

  • Priestly DP (1920) Complete absence of the cerebellum. Lancet 2:1302

    Article  Google Scholar 

  • Reardon W, Donnai D (2007) Dysmorphology demystified. Arch Dis Child Fetal Neonatal Ed 92:F225–F229

    Article  PubMed  PubMed Central  Google Scholar 

  • Riccardi VM, Marcus ES (1978) Congenital hydrocephalus and cerebellar agenesis. Clin Genet 13:443–447

    Article  CAS  PubMed  Google Scholar 

  • Richter S, Dimitrova A, Hein-Kropp C et al (2005) Cerebellar agenesis II: motor and language functions. Neurocase 11:103–113

    Article  CAS  PubMed  Google Scholar 

  • Riva D, Giorgi C (2000) The cerebellum contributes to higher functions during development. Evidence from a series of children surgically treated for posterior fossa tumors. Brain 123:1051–1061

    Article  PubMed  Google Scholar 

  • Romaniello R, Arrigoni F, Panzeri E et al (2017) Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. Eur Radiol 27:5080–5092

    Article  PubMed  Google Scholar 

  • Ronconi L, Casartelli L, Carna S et al (2017) When one is enough: impaired multisensory integration in cerebellar agenesis. Cereb Cortex 27:2041–2051

    CAS  PubMed  Google Scholar 

  • Ross ME, Swanson K, Dobyns WB (2001) Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 32:256–263

    Article  CAS  PubMed  Google Scholar 

  • Salman MS, Tsai P (2016) The role of the pediatric cerebellum in motor functions, cognition, and behavior: a clinical perspective. Neuroimaging Clin N Am 26:317–329

    Article  PubMed  PubMed Central  Google Scholar 

  • Schmahmann ID (1991) An emerging concept: the cerebellar contribution to higher function. Arch Neurol 48:1178–1187

    Article  CAS  PubMed  Google Scholar 

  • Schmahmann JD (1996) From movement to though: anatomic substrates of the cerebellar contribution to cognitive processing. Hum Brain Mapp 4:174–198

    Article  CAS  PubMed  Google Scholar 

  • Schmahmann JD (1997) The cerebellum and cognition. Int Rev Neurobiol, vol 41. Academic Press, San Diego

    Google Scholar 

  • Schmahmann JD (2010) 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 20:236–260

    Article  PubMed  Google Scholar 

  • Schmahmann JD, Sherman JC (1998) The cerebellar cognitive affective syndrome. Brain 121:561–579

    Article  PubMed  Google Scholar 

  • Schmahmann JD, Weilburg JB, Sherman JC (2007) The neuropsychiatry of the cerebellum – insights from the clinic. Cerebellum 6:254–267

    Article  PubMed  Google Scholar 

  • Scott RB, Stoodley CJ, Anslow P et al (2001) Lateralized cognitive deficits in children following cerebellar lesions. Dev Med Child Neurol 43:685–691

    Article  CAS  PubMed  Google Scholar 

  • Sellick GS, Barker KT, Stolte-Dijkstra I et al (2004) Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 36:1301–1305

    Article  CAS  PubMed  Google Scholar 

  • Sener RN (1995) Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. Comput Med Imaging Graph 19:491–494

    Article  CAS  PubMed  Google Scholar 

  • Sener RN, Jinkins JR (1993) Subtotal agenesis of the cerebellum in an adult. MRI demonstration. Neuroradiology 35:286–287

    Article  CAS  PubMed  Google Scholar 

  • Silveri C, Leggio MG, Molinari M (1993) The cerebellum contributes to language production: a case of agrammatic speech following a right cerebellar lesion. Neurology 44:2047–2050

    Article  Google Scholar 

  • Silveri MC, Di Betta AM, Filippini V et al (1998) Verbal short-term store-rehearsal system and the cerebellum. Evidence from a patient with a right cerebellar lesion. Brain 121:2175–2187

    Article  PubMed  Google Scholar 

  • Squier W, Hope PL, Lindenbaum RH (1990) Neocerebellar hypoplasia in a neonate following intra-uterine exposure to anticonvulsivants. Dev Med Child Neurol 32:737–742

    Article  CAS  PubMed  Google Scholar 

  • Steinlin M, Zangger B, Boltshauser E (1998) Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. Dev Med Child Neurol 40:148–154

    Article  CAS  PubMed  Google Scholar 

  • Steinlin M, Styger M, Boltshauser E (1999) Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia. Neurology 53:966–973

    Article  CAS  PubMed  Google Scholar 

  • Sternberg C (1912) Ueber vollstandigen Defekt des Kleinhirnes. Verhandl Deutsch Path Gesellsch 15:359–363

    Google Scholar 

  • Stewart RM (1956) Cerebellar agenesis. J Ment Sci 102:67–77

    Article  CAS  PubMed  Google Scholar 

  • Stoodley CJ (2016) The cerebellum and neurodevelopmental disorders. Cerebellum 15:34–37

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Stoodley CJ, Limperopoulos C (2016) Structure-function relationships in the developing cerebellum: evidence from early-life cerebellar injury and neurodevelopmental disorders. Semin Fetal Neonatal Med 21(5):356–364

    Article  PubMed  PubMed Central  Google Scholar 

  • Tavano A, Borgatti R (2010) Evidence for a link among cognition, language and emotion in cerebellar malformations. Cortex 46(7):907–918

    Article  PubMed  Google Scholar 

  • Tavano A, Fabbro F, Borgatti R (2004) Speaking without the cerebellum. Proct Int Lang Cogn Conf offs Harbour

    Google Scholar 

  • Tavano A, Fabbro F, Borgatti R (2007a) Speaking without the cerebellum: language skills in a young adult with near total absence of the cerebellum. In: Schalley A, Khlentzos D (eds) Mental states: evolution, function, nature. John Benjamin, Amsterdam

    Google Scholar 

  • Tavano A, Fabbro F, Borgatti R (2007b) Language and social communication in children with cerebellar dysgenesis. Folia Phoniatr Logop 59:201–209

    Article  PubMed  Google Scholar 

  • Tavano A, Grasso R, Gagliardi C et al (2007c) Disorders of cognitive and affective development in cerebellar malformations. Brain 130:2646–2660

    Article  PubMed  Google Scholar 

  • Tennstedt A (1965) Kleinhirnaplaise beim Erwachsenen. Zentralbl Allg Pathol 107:301–304

    CAS  PubMed  Google Scholar 

  • Thach TW (1997) Context-response linkage. Int Rev Neurobiol 41:599–611

    Article  CAS  PubMed  Google Scholar 

  • Timmann D, Dimitrova A, Hein-Kropp C et al (2003) Cerebellar agenesis: clinical, neuropsychological and MR findings. Neurocase 9(5):402–413

    Article  CAS  PubMed  Google Scholar 

  • Timmann D, Drepper J, Frings M et al (2010) The human cerebellum contributes to motor, emotional and cognitive associative learning: a review. Cortex 46:845–857

    Article  CAS  PubMed  Google Scholar 

  • Titomanlio L, Romano A, Del Giudice E (2005) Cerebellar agenesis. Neurology 64:E21

    Article  PubMed  Google Scholar 

  • Titomanlio L, De Brasi D, Romano A et al (2006) Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. Acta Paediatr 95:861–863

    Article  PubMed  Google Scholar 

  • Tutak E, Satar M, Yapicioglu H et al (2009) A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. Genet Couns 20(2):147–152

    CAS  PubMed  Google Scholar 

  • Uhl M, Pawlik H, Laudenberger J et al (1998) MR findings in pontocerebellar hypoplasia. Pediatr Radiol 28:547–551

    Article  CAS  PubMed  Google Scholar 

  • Ullman M (1997) A neural dissociation within language: evidence that mental dictionary is part of declarative memory, and that grammatical rules are processed by the procedural system. J Cogn Neurosci 9:266–276

    Article  CAS  PubMed  Google Scholar 

  • Van Bon BW, Koolen DA, Borgatti R et al (2008) Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet 45:346–254

    Article  PubMed  Google Scholar 

  • Van Coster RN, De Praeter CM, Vanhaesebrouck PJ et al (1998) MRI finding in a neonate with cerebellar agenesis. Pediatr Neurol 19:139142

    Google Scholar 

  • Van Hoof SC, Wilmink JT (1996) Cerebellar agenesis. J Belg Radiol 79:282

    PubMed  Google Scholar 

  • Velioglu SK, Kuzelyli K, Zzmenoglu M (1998) Cerebellar agenesis: a case report with clinical MR imaging finding and a review of the literature. Eur J Neurol 5:503–506

    Article  CAS  PubMed  Google Scholar 

  • Verdelli A (1874) Citation in Stewart RM (1956) Cerebellar agenesis. J Ment Sci 102:67–77

    Google Scholar 

  • Wang SSH, Kloth AD, Badura A (2014) The cerebellum, sensitive periods, and autism. Neuron 83:518–532

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Yu F, Jiang QJ, Sun XY, Zhang RW (2015) A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient. Brain 138(Pt 6):e353

    Article  PubMed  Google Scholar 

  • Zaferiou DI, Vargiami E, Bolthsauser E (2004) Cerebellar agenesis and diabetes insipidus. Neuropediatrics 35:364–367

    Article  Google Scholar 

  • Zanni G, Saillour Y, Nagara M et al (2005) Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology 65:1364–1369

    Article  CAS  PubMed  Google Scholar 

  • Zettin M, Cappa SF, D’Amico A et al (1997) Agrammatic speech production after a right cerebellar haemorrhage. Neurocase 3:375–380

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Child Neuropsychiatry and Neurorehabilitation, “E. Medea” Scientific Institute, Bosisio Parini (LC), Italy

    Romina Romaniello

  2. Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy

    Renato Borgatti

  3. Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy

    Renato Borgatti

Authors
  1. Romina Romaniello
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  2. Renato Borgatti
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Corresponding author

Correspondence to Renato Borgatti .

Editor information

Editors and Affiliations

  1. Bruxelles, Belgium

    Mario Manto

  2. Scripps Research Institute Dept. Neuropharmacology, La Jolla, CA, USA

    Donna Gruol

  3. Dept. Neurology, Harvard Medical School Massachusetts General Hospital, Boston, MA, USA

    Jeremy Schmahmann

  4. Gunma University Dept. Integrative Physiology, Maebashi, Gunma, Japan

    Noriyuki Koibuchi

  5. Dept Pathology & Immunology & Neuro, Baylor College of Medicine Dept Pathology & Immunology & Neuro, Houston, TX, USA

    Roy Sillitoe

Section Editor information

  1. Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

    Jeremy D. Schmahmann

  2. CHU-Charleroi, University of Mons, UMons, Charleroi, Belgium

    Mario U. Manto

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Romaniello, R., Borgatti, R. (2020). Cerebellar Agenesis. In: Manto, M., Gruol, D., Schmahmann, J., Koibuchi, N., Sillitoe, R. (eds) Handbook of the Cerebellum and Cerebellar Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-97911-3_84-2

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  • DOI: https://doi.org/10.1007/978-3-319-97911-3_84-2

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  • Print ISBN: 978-3-319-97911-3

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