A clinical diagnostic algorithm for early onset cerebellar ataxia

Research output: Contribution to journalArticle

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.

Details

Authors
  • R. Brandsma
  • C. C. Verschuuren-Bemelmans
  • D. Amrom
  • N. Barisic
  • P. Baxter
  • E. Bertini
  • L. Blumkin
  • V. Brankovic-Sreckovic
  • O. F. Brouwer
  • K. Bürk
  • C. E. Catsman-Berrevoets
  • D. Craiu
  • I. F.M. de Coo
  • J. Gburek
  • C. Kennedy
  • H. P.H. Kremer
  • R. Kumar
  • A. Macaya
  • A. Micalizzi
  • M. Mirabelli-Badenier
  • 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
External organisations
  • University Medical Center Groningen
  • Hopital Universitaire des Enfants Reine Fabiola
  • Centre Hospitalier de Luxembourg
  • University Hospital of Infectious Diseases
  • Sheffield Children's Hospital
  • Bambino Gesù Children’s Hospital
  • Tel-Aviv University
  • Belgrade University School of Medicine
  • Philipp University of Marburg
  • Sophia Children's Hospital
  • Carol Davila University of Medicine and Pharmacy
  • Maastricht University
  • Hannover Medical School
  • University of Southampton
  • Autonomous University of Barcelona
  • University of Genoa
  • University of Oxford
  • University of Salerno
  • Academic Medical Center of University of Amsterdam (AMC)
  • University Children's Hospital Bern
  • University of Tübingen
  • Radboud University Medical Center
  • University of Pavia
  • Children's University Hospital, Zurich
  • NHS Foundation Trust
  • Beatrix Children's Hospital
  • IRCCS Fondazione Santa Lucia
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Neurology

Keywords

  • Algorithm, Cerebellum, Child, Diagnosis, Early Onset Ataxia, NGS techniques
Original languageEnglish
Pages (from-to)692-706
Number of pages15
JournalEuropean Journal of Paediatric Neurology
Volume23
Issue number5
Publication statusPublished - 2019 Sep 1
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes