Abnormal brain development in child and adolescent carriers of mutant huntingtin.

ABSTRACT:

Objective

The huntingtin gene is critical for the formation and differentiation of the CNS, which raises questions about the neurodevelopmental effect of CAG expansion mutations within this gene (mHTT) that cause Huntington disease (HD). We sought to test the hypothesis that child and adolescent carriers of mHTT exhibit different brain growth compared to peers without the mutation by conducting structural MRI in youth who are at risk for HD. We also explored whether the length of CAG expansion affects brain development.

Methods

Children and adolescents (age 6-18) with a parent or grandparent diagnosed with HD underwent MRI and blinded genetic testing to confirm the presence or absence of mHTT. Seventy-five individuals were gene-expanded (GE) and 97 indiv

SUBMITTER: van der Plas E 

PROVIDER: S-EPMC6745731 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature