A clinical diagnostic algorithm for early onset cerebellar ataxia

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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.

Detaljer

Författare
  • 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
Externa organisationer
  • 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
  • University Children's Hospital Bern
  • University of Tübingen
  • Radboud University Medical Center
  • University of Pavia
  • Kinderspital Zurich
  • NHS Foundation Trust
  • Beatrix Children's Hospital
  • IRCCS Fondazione Santa Lucia
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Neurologi

Nyckelord

Originalspråkengelska
Sidor (från-till)692-706
Antal sidor15
TidskriftEuropean Journal of Paediatric Neurology
Volym23
Utgåva nummer5
StatusPublished - 2019 sep 1
PublikationskategoriForskning
Peer review utfördJa
Externt publiceradJa