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A clinical diagnostic algorithm for early onset cerebellar ataxia

A clinical diagnostic algorithm for early onset cerebellar ataxia
A clinical diagnostic algorithm for early onset cerebellar ataxia
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.
1090-3798
Brandsma, R.
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Brouwer, O.F.
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Zanni, G.
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Brandsma, R.
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Amrom, D.
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Barisic, N.
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Macaya, A.
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Mirabelli-Badenier, M.
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Zanni, G.
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Brandsma, R., Verschuuren-Bemelmans, C.C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O.F., Burk, K., Catsman-Berrevoets, C.E., Craiu, D., de Coo, I.F.M., Gburek, J., Kennedy, C., de Koning, T.J., Kremer, H.P.H., Kumar, R., Macaya, A., Micalizzi, A., Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B.T., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M.A.J., Vasvo, G., Willemsen, M.A.A.P., Zanni, G., Valente, E. M., Boltshauser, E. and Sival, D.A. (2019) A clinical diagnostic algorithm for early onset cerebellar ataxia. European Journal of Paediatric Neurology. (doi:10.1016/j.ejpn.2019.08.004).

Record type: Article

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, 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.

Text
Sival et al A Clinical Diagnostic Algorithm for Early Onset Cerebellar AtaxiaRevised EJPN May 2019 - Accepted Manuscript
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More information

Accepted/In Press date: 6 August 2019
e-pub ahead of print date: 10 August 2019

Identifiers

Local EPrints ID: 434210
URI: http://eprints.soton.ac.uk/id/eprint/434210
ISSN: 1090-3798
PURE UUID: c08c40a4-43b6-4261-9f05-44ac156ce6fb

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Date deposited: 16 Sep 2019 16:30
Last modified: 22 Nov 2021 07:41

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Contributors

Author: R. Brandsma
Author: C.C. Verschuuren-Bemelmans
Author: D. Amrom
Author: N. Barisic
Author: P. Baxter
Author: E. Bertini
Author: L. Blumkin
Author: V. Brankovic-Sreckovic
Author: O.F. Brouwer
Author: K. Burk
Author: C.E. Catsman-Berrevoets
Author: D. Craiu
Author: I.F.M. de Coo
Author: J. Gburek
Author: C. Kennedy
Author: T.J. de Koning
Author: H.P.H. Kremer
Author: R. Kumar
Author: A. Macaya
Author: A. Micalizzi
Author: M. Mirabelli-Badenier
Author: A. Nemeth
Author: S. Nuovo
Author: B.T. Poll-The
Author: T. Lerman-Sagie
Author: M. Steinlin
Author: M. Synofzik
Author: M.A.J. Tijssen
Author: G. Vasvo
Author: M.A.A.P. Willemsen
Author: G. Zanni
Author: E. M. Valente
Author: E. Boltshauser
Author: D.A. Sival

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