Scoring algorithm‐based genomic testing in Dystonia: A prospective validation study

Abstract: Background
Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications.

Objectives
We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole-exome sequencing (WES) based on individual phenotypic aspects (age-at-onset, body distribution, presenting comorbidity).

Methods
We prospectively enrolled a set of 209 dystonia-affected families and obtained summary scores (0–5 points) according to the algorithm. Singleton (N = 146), duo (N = 11), and trio (N = 52) WES data were generated to identify genetic diagnoses.

Results
Diagnostic yield was highest (51%) among individuals with a summary score of 5, corresponding to a manifestation of early-onset segmental or generalized dystonia with coexisting non-movement disorder-related neurological symptoms. Sensitivity and specificity at the previously suggested threshold for implementation of WES (3 points) was 96% and 52%, with area under the curve of 0.81.

Conclusions
The algorithm is a useful predictive tool and could be integrated into dystonia routine diagnostic protocols. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society

Object Details

• Location: Deutsche Nationalbibliothek Frankfurt am Main
• Extent: Online-Ressource
• Language: Englisch
• Notes: Movement disorders. - 38, 8 (2021) , 1959-1964, ISSN: 1531-8257

Contributors, Places and Time

• Event: Veröffentlichung
• (where): Freiburg
• (who): Universität
• (when): 2021
• Creator: Zech, Michael ; Wilbert, Friederike Kristin ; Janzarik, Wibke Gesine ; Eckenweiler, Matthias ; Winkelmann, Juliane ; Oexle, Konrad

Further information

• DOI: 10.1002/mds.28614
• URN: urn:nbn:de:bsz:25-freidok-2185190
• Rights: Kein Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 25.03.2025, 1:50 PM CET