In:
Movement Disorders, Wiley, Vol. 36, No. 8 ( 2021-08), p. 1959-1964
Kurzfassung:
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
Materialart:
Online-Ressource
ISSN:
0885-3185
,
1531-8257
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2021
ZDB Id:
2041249-6