Mental Health

January 6, 2023

Early effects of Huntington disease

Impairments in brain executive function happen earlier than motor symptoms in people with the gene mutation that causes Huntington disease, suggesting younger ages and cognitive symptoms be considered for any future clinical trials.

Huntington disease (HD) is a rare, inherited disease that results from a mutation in the Huntingtin gene. HD is commonly described as having Parkinson’s, Alzheimer’s and ALS at the same time. The mutation causes a progressive degeneration of select nerve cells in the brain.     

Historically, HD has been considered a disease which manifests in patients between ages 30 and 40. However, this time frame was based upon the development of motor symptoms.   

Recent research from Anna Pfalzer, PhD, and colleagues reveals that impairments in executive function occur as early as age 18 in individuals with the Huntingtin gene mutation.  

Their findings, published in the Journal of Neurology, Neurosurgery and Psychiatry, suggest that HD impacts cognitive neurodevelopment, resulting in impaired executive function, which affects decision-making, emotion regulation and impulse control, long before manifestation of motor symptoms.  

The researchers propose that these early impairments in executive function should be considered when selecting the target age range and outcome measures in future clinical trials for Huntington disease.

Co-authors include Kelly Watson, PhD, Abagail Ciriegio, MS, Med, Lisa Hale, LMSW, Spender Diehl, LICSW, Katherine McDonell, MD, Cindy Vnencak-Jones, PhD, Elizabeth Huitz, RN, Abigail Snow, Marissa Roth, Cara Guthrie, Heather Riordan, MD, Jeffrey Long, PhD, Bruce Compas, PhD, and Daniel Claassen, MD, MS.

This work was supported by the Griffin Foundation, the Vanderbilt CTSA award TR000224, and the National Institute of Mental Health award MH018921.