The University of Southampton
×
Filter your search:
University of Southampton Institutional Repository

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.
c19e8337-9900-4c24-845e-17a64ea24237
Verschuuren-Bemelmans, C.C.
033fcd85-bbb4-47f6-a3ba-2193cfb07a8a
Amrom, D.
e27e263a-3781-4800-95d7-b2023715b072
Barisic, N.
f19d36c5-2bf9-4f02-a037-79d93c439b32
Baxter, P.
64f26117-e0fa-44e9-8467-ee308571dccf
Bertini, E.
e1b5499d-fba9-4d0d-a9f6-80388056371f
Blumkin, L.
fdd3d987-5cfe-4df6-a732-bb25be7d2f44
Brankovic-Sreckovic, V.
afa35d27-6070-496c-8e3a-a66fd54272b1
Brouwer, O.F.
a4e7babc-fc10-46bf-b51e-047c7fb27eeb
Burk, K.
3c5f68c1-c473-4024-8cc5-d9aff3ad97ed
Catsman-Berrevoets, C.E.
bd2baf12-862e-40b8-bce9-fb4143aaa662
Craiu, D.
d3eb7942-7c3e-439c-ab7f-aa1689776c49
de Coo, I.F.M.
5429d1c1-212a-4848-a888-30d5aa2b2b8a
Gburek, J.
a7801f5f-b50b-4a3a-be30-78c37fc62d6f
Kennedy, C.
7c3aff62-0a86-4b44-b7d7-4bc01f23ec93
de Koning, T.J.
d78fc811-867d-420c-baf0-e8cae9652ec9
Kremer, H.P.H.
43719a58-e34d-4ecb-987b-19c5652a56f9
Kumar, R.
74dee938-14d6-4728-b727-e15fbb5b35b9
Macaya, A.
de67a776-722f-44ef-a52c-0b25f6393220
Micalizzi, A.
3e407619-8578-436d-acc3-69b69601418c
Mirabelli-Badenier, M.
0806196c-c5db-40f9-a778-13dd7af12f90
Nemeth, A.
1d93fc74-a7fb-484a-8658-565dbf5a7714
Nuovo, S.
1ff0e6f0-0073-4c1a-b315-f15b4bfcd68d
Poll-The, B.T.
01a0ca62-cd28-4c9f-8ba2-7a66504c1fe6
Lerman-Sagie, T.
a45b2c94-f81a-45ea-bd3c-bdaf82a6f3eb
Steinlin, M.
7c3b31a4-69ef-45b2-a005-e7c22e8db814
Synofzik, M.
c07c5ed5-6f4a-4e44-ae21-027fcb74e4e4
Tijssen, M.A.J.
72cb41f9-3aaa-46f8-9f20-b464ceebd050
Vasvo, G.
13b79acf-5bae-4c97-a5d8-c36958206a4e
Willemsen, M.A.A.P.
b1ee2407-cdc6-4b3d-8551-7e924054777d
Zanni, G.
2d3bb712-6757-429d-a93e-3691141eb77d
Valente, E. M.
c5c74efa-5138-4057-a533-a9c835dae1d2
Boltshauser, E.
7bbdf663-0dee-4b4c-8e62-dc829c4fcf70
Sival, D.A.
daf408b9-dc92-46e7-ae23-db92ec7199c5
Brandsma, R.
c19e8337-9900-4c24-845e-17a64ea24237
Verschuuren-Bemelmans, C.C.
033fcd85-bbb4-47f6-a3ba-2193cfb07a8a
Amrom, D.
e27e263a-3781-4800-95d7-b2023715b072
Barisic, N.
f19d36c5-2bf9-4f02-a037-79d93c439b32
Baxter, P.
64f26117-e0fa-44e9-8467-ee308571dccf
Bertini, E.
e1b5499d-fba9-4d0d-a9f6-80388056371f
Blumkin, L.
fdd3d987-5cfe-4df6-a732-bb25be7d2f44
Brankovic-Sreckovic, V.
afa35d27-6070-496c-8e3a-a66fd54272b1
Brouwer, O.F.
a4e7babc-fc10-46bf-b51e-047c7fb27eeb
Burk, K.
3c5f68c1-c473-4024-8cc5-d9aff3ad97ed
Catsman-Berrevoets, C.E.
bd2baf12-862e-40b8-bce9-fb4143aaa662
Craiu, D.
d3eb7942-7c3e-439c-ab7f-aa1689776c49
de Coo, I.F.M.
5429d1c1-212a-4848-a888-30d5aa2b2b8a
Gburek, J.
a7801f5f-b50b-4a3a-be30-78c37fc62d6f
Kennedy, C.
7c3aff62-0a86-4b44-b7d7-4bc01f23ec93
de Koning, T.J.
d78fc811-867d-420c-baf0-e8cae9652ec9
Kremer, H.P.H.
43719a58-e34d-4ecb-987b-19c5652a56f9
Kumar, R.
74dee938-14d6-4728-b727-e15fbb5b35b9
Macaya, A.
de67a776-722f-44ef-a52c-0b25f6393220
Micalizzi, A.
3e407619-8578-436d-acc3-69b69601418c
Mirabelli-Badenier, M.
0806196c-c5db-40f9-a778-13dd7af12f90
Nemeth, A.
1d93fc74-a7fb-484a-8658-565dbf5a7714
Nuovo, S.
1ff0e6f0-0073-4c1a-b315-f15b4bfcd68d
Poll-The, B.T.
01a0ca62-cd28-4c9f-8ba2-7a66504c1fe6
Lerman-Sagie, T.
a45b2c94-f81a-45ea-bd3c-bdaf82a6f3eb
Steinlin, M.
7c3b31a4-69ef-45b2-a005-e7c22e8db814
Synofzik, M.
c07c5ed5-6f4a-4e44-ae21-027fcb74e4e4
Tijssen, M.A.J.
72cb41f9-3aaa-46f8-9f20-b464ceebd050
Vasvo, G.
13b79acf-5bae-4c97-a5d8-c36958206a4e
Willemsen, M.A.A.P.
b1ee2407-cdc6-4b3d-8551-7e924054777d
Zanni, G.
2d3bb712-6757-429d-a93e-3691141eb77d
Valente, E. M.
c5c74efa-5138-4057-a533-a9c835dae1d2
Boltshauser, E.
7bbdf663-0dee-4b4c-8e62-dc829c4fcf70
Sival, D.A.
daf408b9-dc92-46e7-ae23-db92ec7199c5

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
Available under License Creative Commons Attribution Non-commercial No Derivatives.
Download (174kB)

More information

Accepted/In Press date: 6 August 2019
e-pub ahead of print date: 10 August 2019
Learn more about Institute for Life Sciences research

Identifiers

Local EPrints ID: 434210
URI: http://eprints.soton.ac.uk/id/eprint/434210
DOI: doi:10.1016/j.ejpn.2019.08.004
ISSN: 1090-3798
PURE UUID: c08c40a4-43b6-4261-9f05-44ac156ce6fb

Catalogue record

Date deposited: 16 Sep 2019 16:30
Last modified: 16 Mar 2024 08:07

Export record

Altmetrics

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

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Library staff additional information
Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×