A clinical diagnostic algorithm for early onset cerebellar ataxia

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

doi:10.1016/j.ejpn.2019.08.004

A clinical diagnostic algorithm for early onset cerebellar ataxia

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

^*Corresponding author voor dit werk

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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. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Originele taal-2	English
Pagina's (van-tot)	692-706
Aantal pagina's	15
Tijdschrift	European Journal of Paediatric Neurology
Volume	23
Nummer van het tijdschrift	54
DOI's	https://doi.org/10.1016/j.ejpn.2019.08.004
Status	Published - sep.-2019

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A clinical diagnostic algorithm for early onsetFinal publisher's version, 942 KBLicentie: Taverne

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Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, Brouwer, O. F., Buerk, 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(54), 692-706. https://doi.org/10.1016/j.ejpn.2019.08.004

@article{2a9486922a39454b91a445a7d9017467,

title = "A clinical diagnostic algorithm for early onset cerebellar ataxia",

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. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.",

keywords = "Early Onset Ataxia, Child, Algorithm, NGS techniques, Cerebellum, Diagnosis, VITAMIN-E-DEFICIENCY, OCULOMOTOR APRAXIA TYPE-2, FOLLOW-UP, RATING-SCALE, CEREBROTENDINOUS XANTHOMATOSIS, DIFFERENTIAL-DIAGNOSIS, SPASTIC PARAPLEGIA, CHILDREN, GENE, MUTATIONS",

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

year = "2019",

month = sep,

doi = "10.1016/j.ejpn.2019.08.004",

language = "English",

volume = "23",

pages = "692--706",

journal = "European Journal of Paediatric Neurology",

issn = "1090-3798",

publisher = "ELSEVIER SCI LTD",

number = "54",

}

Brandsma, R, Verschuuren-Bemelmans, CC, Amrom, D, Barisic, N, Baxter, P, Bertini, E, Blumkin, L, Brankovic-Sreckovic, , Brouwer, OF, Buerk, 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, nr. 54, blz. 692-706. https://doi.org/10.1016/j.ejpn.2019.08.004

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, null

AU - Brouwer, O. F.

AU - Buerk, 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

Y1 - 2019/9

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. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

KW - Early Onset Ataxia

KW - Child

KW - Algorithm

KW - NGS techniques

KW - Cerebellum

KW - Diagnosis

KW - VITAMIN-E-DEFICIENCY

KW - OCULOMOTOR APRAXIA TYPE-2

KW - FOLLOW-UP

KW - RATING-SCALE

KW - CEREBROTENDINOUS XANTHOMATOSIS

KW - DIFFERENTIAL-DIAGNOSIS

KW - SPASTIC PARAPLEGIA

KW - CHILDREN

KW - GENE

KW - MUTATIONS

U2 - 10.1016/j.ejpn.2019.08.004

DO - 10.1016/j.ejpn.2019.08.004

M3 - Article

SN - 1090-3798

VL - 23

SP - 692

EP - 706

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

IS - 54

ER -

A clinical diagnostic algorithm for early onset cerebellar ataxia

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