Endophenotypical drift in Huntington's disease: a 5-year follow-up study.

ABSTRACT:

Background

Huntington's disease (HD) is clinically characterized by progressing motor, cognitive and psychiatric symptoms presenting as varying phenotypes within these three major symptom domains. The disease is caused by an expanded CAG repeat tract in the huntingtin gene and the pathomechanism leading to these endophenotypes is assumed to be neurodegenerative. In 2012/2013 we recruited 107 HD gene expansion carriers (HDGECs) and examined the frequency of the three cardinal symptoms and in 2017/2018 we followed up 74 HDGECs from the same cohort to describe the symptom trajectories and individual drift between the endophenotypes as well as potential predictors of progression and remission.

Results

We found higher age to reduce the probability of improving on psychiatric symp

SUBMITTER: Hellem MNN 

PROVIDER: S-EPMC8336065 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature