Mov Disord Clin Pract. 2024 Oct 5. doi: 10.1002/mdc3.14223. Online ahead of print.
ABSTRACT
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.
PMID:39367695 | DOI:10.1002/mdc3.14223
