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A clinical diagnostic algorithm for early onset cerebellar ataxia

Brandsma, R. ; Verschuuren-Bemelmans, C. C. ; Amrom, D. ; Barisic, N. ; Baxter, P. ; Bertini, E. ; Blumkin, L. ; Brankovic-Sreckovic, V. ; Brouwer, O. F. and Bürk, K. , et al. (2019) In European Journal of Paediatric Neurology 23(5). p.692-706
Abstract

Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotype–phenotype relationships. This may change the diagnostic work-up into a time-consuming, costly and not always rewarding task. In this overview, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society (CACG-EPNS) presents a diagnostic algorithm for EOAc patients. In seven consecutive steps, the algorithm leads the clinician through the diagnostic process, including EOA identification, application of the Inventory of Non-Ataxic Signs (INAS), consideration of the family history,... (More)

Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotype–phenotype relationships. This may change the diagnostic work-up into a time-consuming, costly and not always rewarding task. In this overview, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society (CACG-EPNS) presents a diagnostic algorithm for EOAc patients. In seven consecutive steps, the algorithm leads the clinician through the diagnostic process, including EOA identification, application of the Inventory of Non-Ataxic Signs (INAS), consideration of the family history, neuro-imaging, laboratory investigations, genetic testing by array CGH and Next Generation Sequencing (NGS). In children with EOAc, this algorithm is intended to contribute to the diagnostic process and to allow uniform data entry in EOAc databases.

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publishing date
type
Contribution to journal
publication status
published
subject
keywords
Algorithm, Cerebellum, Child, Diagnosis, Early Onset Ataxia, NGS techniques
in
European Journal of Paediatric Neurology
volume
23
issue
5
pages
15 pages
publisher
Elsevier
external identifiers
  • scopus:85071490568
  • pmid:31481303
ISSN
1090-3798
DOI
10.1016/j.ejpn.2019.08.004
language
English
LU publication?
no
id
b5c54226-4837-42f3-ba97-679e60b63751
date added to LUP
2020-02-11 12:11:59
date last changed
2024-05-01 05:24:20
@article{b5c54226-4837-42f3-ba97-679e60b63751,
  abstract     = {{<p>Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotype–phenotype relationships. This may change the diagnostic work-up into a time-consuming, costly and not always rewarding task. In this overview, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society (CACG-EPNS) presents a diagnostic algorithm for EOAc patients. In seven consecutive steps, the algorithm leads the clinician through the diagnostic process, including EOA identification, application of the Inventory of Non-Ataxic Signs (INAS), consideration of the family history, neuro-imaging, laboratory investigations, genetic testing by array CGH and Next Generation Sequencing (NGS). In children with EOAc, this algorithm is intended to contribute to the diagnostic process and to allow uniform data entry in EOAc databases.</p>}},
  author       = {{Brandsma, R. and Verschuuren-Bemelmans, C. C. and Amrom, D. and Barisic, N. and Baxter, P. and Bertini, E. and Blumkin, L. and Brankovic-Sreckovic, V. and Brouwer, O. F. and Bürk, K. and Catsman-Berrevoets, C. E. and Craiu, D. and de Coo, I. F.M. and Gburek, J. and Kennedy, C. and de Koning, T. J. and Kremer, H. P.H. and Kumar, R. and Macaya, A. and Micalizzi, A. and Mirabelli-Badenier, M. and Nemeth, A. and Nuovo, S. and Poll-The, B. and Lerman-Sagie, T. and Steinlin, M. and Synofzik, M. and Tijssen, M. A.J. and Vasco, G. and Willemsen, M. A.A.P. and Zanni, G. and Valente, E. M. and Boltshauser, E. and Sival, D. A.}},
  issn         = {{1090-3798}},
  keywords     = {{Algorithm; Cerebellum; Child; Diagnosis; Early Onset Ataxia; NGS techniques}},
  language     = {{eng}},
  month        = {{09}},
  number       = {{5}},
  pages        = {{692--706}},
  publisher    = {{Elsevier}},
  series       = {{European Journal of Paediatric Neurology}},
  title        = {{A clinical diagnostic algorithm for early onset cerebellar ataxia}},
  url          = {{http://dx.doi.org/10.1016/j.ejpn.2019.08.004}},
  doi          = {{10.1016/j.ejpn.2019.08.004}},
  volume       = {{23}},
  year         = {{2019}},
}