Phenotype-genotype discrepancies in the prospective Huntington at-risk observational study.

ABSTRACT:

Objective

To examine phenotype-genotype discrepancies (PGDs) wherein genotype-concealed and prospective judgments of the motor onset of Huntington disease (HD) occurred among at-risk adults who had nonexpanded (<37) cytosine-adenine-guanine (CAG) trinucleotide DNA repeats.

Methods

We examined the prospective clinical assessments of investigators who were kept unaware of individual CAG lengths in the Prospective Huntington At-Risk Observational Study (PHAROS) who enrolled and followed undiagnosed adults at risk for HD who chose not to learn their gene status. Subjects (n = 1001) at 43 Huntington Study Group research sites in the US and Canada were evaluated prospectively and systematically between 1999 and 2009. At each site, an investigator was designated to perform c

SUBMITTER: Shoulson I 

PROVIDER: S-EPMC6562068 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature