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Published on: December 10, 2021
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Longitudinal Clinical and Biological Characteristics in Juvenile-Onset Huntington's Disease
Jordan L Schultz1,2,3, Douglas R Langbehn1, Hend M Al-Kaylani1
1Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.
Summary
Juvenile-onset Huntington's disease (JOHD) shows significant striatal volume loss and motor decline. These findings suggest brain imaging and motor scores as potential biomarkers for JOHD clinical trials.
Area of Science:
- Neurology
- Genetics
- Biomarkers
Background:
- Juvenile-onset Huntington's disease (JOHD) is a rare form of Huntington's disease (HD) with onset before age 21.
- Limited observational data exists for this pediatric HD cohort.
Purpose of the Study:
- To quantify disease progression measures in JOHD patients.
- To identify potential biomarkers for clinical trials in JOHD.
Main Methods:
- The Kids-JOHD study included 26 JOHD participants and 78 gene non-expanded (GNE) controls.
- Data collected between 2006 and 2020 compared striatal volume and Unified Huntington's Disease Rating Scale Total Motor Score.
Main Results:
- JOHD patients experienced a mean annualized striatal volume decrease of -3.99% versus -0.06% in GNE controls.
- JOHD patients showed a mean annual increase of 7.29 points in motor score, unlike GNE controls (-0.21 points).
Conclusions:
- Structural brain imaging and clinical motor scores show potential as biomarkers for JOHD progression.
- Larger collaborative studies are needed to validate these findings in JOHD patients.
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