Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.

ABSTRACT: One percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their diagnosis is still a challenge. Our objective is to provide a diagnostic approach to HD phenocopies based on medical expertise and a review of the literature. We employed two complementary approaches sequentially: a review of the literature and two surveys analyzing the daily clinical practice of physicians who are experts in movement disorders. The review of the literature was conducted from 1993 to 2020, by extracting articles about chorea or HD-like disorders from the database Pubmed, yielding 51 articles, and analyzing 20 articles in depth to establish the surveys. Twenty-eight physicians responded to the first survey exploring the

SUBMITTER: Nguyen QTR 

PROVIDER: S-EPMC8866848 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature