Huntingtin Protein

Huntington's disease

Age of onset

Disease

Biology

Internal medicine

Genetics

Medicine

Huntingtin

Neurology

<h3>Objective</h3> 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 (<i>mHTT</i>) that cause Huntington disease (HD). We sought to test the hypothesis that child and adolescent carriers of <i>mHTT</i> 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. <h3>Methods</h3> 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 <i>mHTT</i>. Seventy-five individuals were gene-expanded (GE) and 97 individuals were gene-nonexpanded (GNE). The GE group was estimated to be on average 35 years from clinical onset. Following an accelerated longitudinal design, age-related changes in brain regions were estimated. <h3>Results<...

Abnormal brain development in child and adolescent carriers of mutant huntingtin