A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma, R; Verschuuren-Bemelmans, C C; Amrom, D; Barisic, N; Baxter, P; Bertini, E; Blumkin, L; Brankovic-Sreckovic, V; Brouwer, O F; Bürk, 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; Micalizzi, A; ... (2019). A clinical diagnostic algorithm for early onset cerebellar ataxia. European journal of paediatric neurology, 23(5), pp. 692-706. Elsevier 10.1016/j.ejpn.2019.08.004

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Steinlin, Maja

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1090-3798

Publisher:

Elsevier

Language:

English

Submitter:

Karen Lidzba

Date Deposited:

21 Oct 2019 13:34

Last Modified:

03 Nov 2019 01:32

Publisher DOI:

10.1016/j.ejpn.2019.08.004

PubMed ID:

31481303

Uncontrolled Keywords:

Algorithm Cerebellum Child Diagnosis Early Onset Ataxia NGS techniques

BORIS DOI:

10.7892/boris.134047

URI:

https://boris.unibe.ch/id/eprint/134047

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