@article{c481f75531ec4cf3b5e37114171e529c,
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.}",
note = "Funding Information: E.B. and G.V. were supported by a grant from the Italian Ministry of Health Ricerca Finalizzata NET-2013-02356160 . Funding Information: I.C. was supported by grant N-2018-L from Stichting NeMO . Funding Information: M.S. was supported by a grant of the Else Kr{\"o}ner-Fresenius-Stiftung . Funding Information: M.S. was supported by a grant of the Else Kr?ner-Fresenius-Stiftung.E.B. and G.V. were supported by a grant from the Italian Ministry of Health Ricerca Finalizzata NET-2013-02356160.A.M. was supported by grant PI15/01791 from Instituto Carlos III, Spain.I.C. was supported by grant N-2018-L from Stichting NeMO.This algorithm has been written by the members of Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society (CACG-EPNS). The EPNS is greatly acknowledged for their support in the organisation of the expert meetings. Funding Information: A.M. was supported by grant PI15/01791 from Instituto Carlos III, Spain . Publisher Copyright: {\textcopyright} 2019 European Paediatric Neurology Society",
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 = "5",
}