Related Experiment Video
Updated: May 5, 2026

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
Published on: June 9, 2018
Pediatric Huntington Disease Brains Have Distinct Morphologic and Metabolic Traits: the RAREST-JHD Study
Maria Eugenia Caligiuri1, Emanuele Tinelli1,2, Patrizia Vizza2
1Department of Medical and Surgical Sciences, Neuroscience Research Centre, University Magna Graecia, Catanzaro, Italy.
Background:
Pediatric-onset Huntington's disease (POHD) exhibits a phenotype different from adult-onset HD (AOHD), with hypokinetic movement disorders (eg, rigidity, bradykinesia, and dystonia) rather than chorea typical of AOHD.
Objectives:
The aim was to identify pathophysiology-based biomarkers specific to POHD (≥60 CAG repeats).
Methods:
Simultaneous hybrid imaging using [18F]fluoro-2-deoxy-d-glucose (FDG) positron emission tomography plus magnetic resonance imaging (FDG-PET/MRI) and clinical assessment using standardized Huntington's disease (HD) scales were employed. Exploratory longitudinal analyses were also performed.
Results:
Striatal volume loss was remarkable and more severe in POHD (n = 5) than in AOHD (n = 14). Widespread, significantly altered glucose metabolism occurred in several different POHD cortical areas and thalamus, but not AOHD cortex, consistent with differences in clinical progression.
Conclusions:
POHD patients' brains exhibited distinct morphologic and metabolic traits compared to AOHD patients' brains, with longitudinal changes mirroring clinical progression. Hybrid FDG-PET/MRI highlighted a variable regional brain dysfunction in vivo, as a biological consequence of highly expanded CAG repeats. Findings provide further evidence that POHD is a distinct disease from AOHD.
Related Concept Videos
Genetic Lingo
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Alzheimer Disease ll: Pathophysiology
Parkinson Disease ll: Pathophysiology
Huntington Disease l: Introduction

