How Huntington’s disease alters whole-brain connectivity
Researchers have linked specific gene mutations and brain function in Huntington’s disease (HD) patients by comparing trinucleotide (CAG) repeats with whole-brain connectivity via functional MRI (fMRI). Examining disease carriers and health controls, the researchers found CAG repeat length inversely correlates with an individual’s age at onset.
The study—led by Flor Espinoza, PhD, a research scientist with the Mind Research Network in Albuquerque, New Mexico—was published online March 21 in Brain Connectivity.
“[T]he results from the characterization of functional network connectivity changes in individuals with CAG mutation suggest that much can be learned from ongoing study in this area,” wrote Espinoza et al. “Application of these methods will be essential to improving anatomical and functional correlates of the earliest HD manifestations.”
The team examined resting-state fMRI from 261 individuals with HD, with 183 carriers of the HD gene mutation and 78 healthy controls. Participants had a mean age of 42.5 years.
“Consistent with known volumetric and pathological research, the within network connectivity in the putamen was largely reduced in [the HD carriers] and the functional connectivities between the putamen and other networks were similarly aberrant,” the authors wrote.
The study is available for free here through April 21, 2018.