Disease Onset in Huntington's Disease: When Is the Conversion?

ABSTRACT:

Background

Determination of disease onset in Huntington's disease is made by clinical experience. The diagnostic confidence level is an assessment regarding the certainty about the clinical diagnosis based on motor signs. A level of 4 means the rater has ≥99% confidence motor abnormalities are unequivocal signs of disease. However, it does not state which motor abnormalities are signs of disease and how many must be present.

Objective

Our aim is to explore how accurate the diagnostic confidence level is in estimating disease onset using the Enroll-HD data set. For clinical disease onset we use a cut-off total motor score >5 of the Unified Huntington's Disease Rating Scale. This score is used in the TRACK-HD study, with ≤5 indicating no substantial motor signs in premanifests

SUBMITTER: Oosterloo M 

PROVIDER: S-EPMC8015887 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature