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 for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)692-706
Number of pages15
JournalEuropean Journal of Paediatric Neurology
Volume23
Issue number5
DOIs
Publication statusPublished - Sep 2019

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

Cite this

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(5), 692-706. https://doi.org/10.1016/j.ejpn.2019.08.004