Highlights
- •This algorithm will guide the clinician through the diagnostic process of EOA.
- •We provide clear phenotypic descriptions to target genetic investigations.
- •The reader will obtain an overview of known genetic causes.
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.
Keywords
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Article info
Publication history
Published online: August 10, 2019
Accepted:
August 6,
2019
Received in revised form:
May 25,
2019
Received:
January 22,
2019
Identification
Copyright
© 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
