A clinical diagnostic algorithm for early onset cerebellar ataxia

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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.; Bürk, 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.; Lerman-Sagie, T.; Steinlin, M.; Synofzik, M.; Tijssen, M. A.J.; Vasco, G.; Willemsen, M. A.A.P.; Zanni, G.; Valente, E. M.; Boltshauser, E.; Sival, D. A.

In: European Journal of Paediatric Neurology, Vol. 23, No. 5, 01.09.2019, p. 692-706.

Research output: Contribution to journalArticle

Harvard

Brandsma, R, Verschuuren-Bemelmans, CC, Amrom, D, Barisic, N, Baxter, P, Bertini, E, Blumkin, L, Brankovic-Sreckovic, V, Brouwer, OF, Bürk, K, Catsman-Berrevoets, CE, Craiu, D, de Coo, IFM, Gburek, J, Kennedy, C, de Koning, TJ, Kremer, HPH, Kumar, R, Macaya, A, Micalizzi, A, Mirabelli-Badenier, M, Nemeth, A, Nuovo, S, Poll-The, B, Lerman-Sagie, T, Steinlin, M, Synofzik, M, Tijssen, MAJ, Vasco, G, Willemsen, MAAP, Zanni, G, Valente, EM, Boltshauser, E & Sival, DA 2019, 'A clinical diagnostic algorithm for early onset cerebellar ataxia', European Journal of Paediatric Neurology, vol. 23, no. 5, pp. 692-706. https://doi.org/10.1016/j.ejpn.2019.08.004

APA

Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O. F., Bürk, 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., ... Sival, D. A. (2019). A clinical diagnostic algorithm for early onset cerebellar ataxia. European Journal of Paediatric Neurology, 23(5), 692-706. https://doi.org/10.1016/j.ejpn.2019.08.004

CBE

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA. 2019. A clinical diagnostic algorithm for early onset cerebellar ataxia. European Journal of Paediatric Neurology. 23(5):692-706. https://doi.org/10.1016/j.ejpn.2019.08.004

MLA

Vancouver

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E et al. A clinical diagnostic algorithm for early onset cerebellar ataxia. European Journal of Paediatric Neurology. 2019 Sep 1;23(5):692-706. https://doi.org/10.1016/j.ejpn.2019.08.004

Author

Brandsma, R. ; Verschuuren-Bemelmans, C. C. ; Amrom, D. ; Barisic, N. ; Baxter, P. ; Bertini, E. ; Blumkin, L. ; Brankovic-Sreckovic, V. ; Brouwer, O. F. ; Bürk, 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. ; Lerman-Sagie, T. ; Steinlin, M. ; Synofzik, M. ; Tijssen, M. A.J. ; Vasco, G. ; Willemsen, M. A.A.P. ; Zanni, G. ; Valente, E. M. ; Boltshauser, E. ; Sival, D. A. / A clinical diagnostic algorithm for early onset cerebellar ataxia. In: European Journal of Paediatric Neurology. 2019 ; Vol. 23, No. 5. pp. 692-706.

RIS

TY - JOUR

T1 - A clinical diagnostic algorithm for early onset cerebellar ataxia

AU - Brandsma, R.

AU - Verschuuren-Bemelmans, C. C.

AU - Amrom, D.

AU - Barisic, N.

AU - Baxter, P.

AU - Bertini, E.

AU - Blumkin, L.

AU - Brankovic-Sreckovic, V.

AU - Brouwer, O. F.

AU - Bürk, K.

AU - Catsman-Berrevoets, C. E.

AU - Craiu, D.

AU - de Coo, I. F.M.

AU - Gburek, J.

AU - Kennedy, C.

AU - de Koning, T. J.

AU - Kremer, H. P.H.

AU - Kumar, R.

AU - Macaya, A.

AU - Micalizzi, A.

AU - Mirabelli-Badenier, M.

AU - Nemeth, A.

AU - Nuovo, S.

AU - Poll-The, B.

AU - Lerman-Sagie, T.

AU - Steinlin, M.

AU - Synofzik, M.

AU - Tijssen, M. A.J.

AU - Vasco, G.

AU - Willemsen, M. A.A.P.

AU - Zanni, G.

AU - Valente, E. M.

AU - Boltshauser, E.

AU - Sival, D. A.

PY - 2019/9/1

Y1 - 2019/9/1

N2 - 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.

AB - 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.

KW - Algorithm

KW - Cerebellum

KW - Child

KW - Diagnosis

KW - Early Onset Ataxia

KW - NGS techniques

UR - http://www.scopus.com/inward/record.url?scp=85071490568&partnerID=8YFLogxK

U2 - 10.1016/j.ejpn.2019.08.004

DO - 10.1016/j.ejpn.2019.08.004

M3 - Article

C2 - 31481303

AN - SCOPUS:85071490568

VL - 23

SP - 692

EP - 706

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

SN - 1090-3798

IS - 5

ER -