Childhood Cerebellar Ataxia

Overview

Journal J Child Neurol

Specialties Neurology
Pediatrics

Date 2012 Jul 6

PMID 22764177

Citations 20

Authors

Brent L Fogel

Affiliations

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Abstract

Childhood presentations of ataxia, an impairment of balance and coordination caused by damage to or dysfunction of the cerebellum, can often be challenging to diagnose. Presentations tend to be clinically heterogeneous, but key considerations may vary based on the child's age at onset, the course of illness, and subtle differences in phenotype. Systematic investigation is recommended for efficient diagnosis. In this review, we outline common etiologies and describe a comprehensive approach to the evaluation of both acquired and genetic cerebellar ataxia in children.

Citing Articles

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.

Sartorelli J, Pomponi M, Garone G, Vasco G, Cumbo F, Colona V Brain Sci. 2025; 15(2).

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Early acute cerebellar ataxia after meningococcal B vaccine: a case report of a 7-month-old infant and a review of the literature.

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Anti-homer-3 Antibody Encephalitis in a 10-Year-Old Child: Case Report and Review of the Literature.

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Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the Model.

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Dance Improves Motor, Cognitive, and Social Skills in Children With Developmental Cerebellar Anomalies.

Begel V, Bachrach A, Bella S, Laroche J, Clement S, Riquet A Cerebellum. 2021; 21(2):264-279.

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References

Ishikawa N, Kobayashi M . Recurrent acute cerebellar ataxia associated with anti-cardiolipin antibodies. Brain Dev. 2009; 32(7):588-91. DOI: 10.1016/j.braindev.2009.07.009. View

Gorman M . Update on diagnosis, treatment, and prognosis in opsoclonus-myoclonus-ataxia syndrome. Curr Opin Pediatr. 2010; 22(6):745-50. DOI: 10.1097/MOP.0b013e32833fde3f. View

Fogel B, Perlman S . Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007; 6(3):245-57. DOI: 10.1016/S1474-4422(07)70054-6. View

Metzker M . Sequencing technologies - the next generation. Nat Rev Genet. 2009; 11(1):31-46. DOI: 10.1038/nrg2626. View

Luckhoff C, Starr M . Minor head injuries in children - an approach to management. Aust Fam Physician. 2010; 39(5):284-7. View

Boddaert N, Desguerre I, Bahi-Buisson N, Romano S, Valayannopoulos V, Saillour Y . Posterior fossa imaging in 158 children with ataxia. J Neuroradiol. 2010; 37(4):220-30. DOI: 10.1016/j.neurad.2009.12.009. View

Ruggieri M, Incorpora G, Polizzi A, Parano E, Spina M, Pavone P . Low prevalence of neurologic and psychiatric manifestations in children with gluten sensitivity. J Pediatr. 2008; 152(2):244-9. DOI: 10.1016/j.jpeds.2007.06.042. View

Benini R, Ben Amor I, Shevell M . Clinical clues to differentiating inherited and noninherited etiologies of childhood ataxias. J Pediatr. 2011; 160(1):152-7. DOI: 10.1016/j.jpeds.2011.06.029. View

Brusse E, Maat-Kievit J, van Swieten J . Diagnosis and management of early- and late-onset cerebellar ataxia. Clin Genet. 2007; 71(1):12-24. DOI: 10.1111/j.1399-0004.2006.00722.x. View

10.

Ilg W, Brotz D, Burkard S, Giese M, Schols L, Synofzik M . Long-term effects of coordinative training in degenerative cerebellar disease. Mov Disord. 2010; 25(13):2239-46. DOI: 10.1002/mds.23222. View

11.

Sevin C, Ferdinandusse S, Waterham H, Wanders R, Aubourg P . Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. Orphanet J Rare Dis. 2011; 6:8. PMC: 3064617. DOI: 10.1186/1750-1172-6-8. View

12.

Fogel B, Lee J, Lane J, Wahnich A, Chan S, Huang A . Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Mov Disord. 2012; 27(3):442-6. PMC: 3323119. DOI: 10.1002/mds.24064. View

13.

Poretti A, Wolf N, Boltshauser E . Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol. 2007; 12(3):155-67. DOI: 10.1016/j.ejpn.2007.07.010. View

14.

Durr A . Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010; 9(9):885-94. DOI: 10.1016/S1474-4422(10)70183-6. View

15.

Steinlin M . Non-progressive congenital ataxias. Brain Dev. 1998; 20(4):199-208. DOI: 10.1016/s0387-7604(98)00019-9. View

16.

Manto M . Mechanisms of human cerebellar dysmetria: experimental evidence and current conceptual bases. J Neuroeng Rehabil. 2009; 6:10. PMC: 2679756. DOI: 10.1186/1743-0003-6-10. View

17.

Manto M, Marmolino D . Cerebellar ataxias. Curr Opin Neurol. 2009; 22(4):419-29. DOI: 10.1097/WCO.0b013e32832b9897. View

18.

Fogel B . Interpretation of genetic testing: variants of unknown significance. Continuum (Minneap Minn). 2012; 17(2 Neurogenetics):347-52. PMC: 3587691. DOI: 10.1212/01.CON.0000396975.87637.86. View

19.

Ilg W, Synofzik M, Brotz D, Burkard S, Giese M, Schols L . Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology. 2009; 73(22):1823-30. DOI: 10.1212/WNL.0b013e3181c33adf. View

20.

Fogel B, Perlman S . An approach to the patient with late-onset cerebellar ataxia. Nat Clin Pract Neurol. 2006; 2(11):629-35. DOI: 10.1038/ncpneuro0319. View