Ontology highlight
ABSTRACT:
SUBMITTER: Wiatr K
PROVIDER: S-EPMC5842500 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Wiatr Kalina K Szlachcic Wojciech J WJ Trzeciak Marta M Figlerowicz Marek M Figiel Maciej M
Molecular neurobiology 20170511 4
Huntington disease (HD) is a dominantly inherited disorder caused by a CAG expansion mutation in the huntingtin (HTT) gene, which results in the HTT protein that contains an expanded polyglutamine tract. The adult form of HD exhibits a late onset of the fully symptomatic phase. However, there is also a long presymptomatic phase, which has been increasingly investigated and recognized as important for the disease development. Moreover, the juvenile form of HD, evoked by a higher number of CAG rep ...[more]