Pediatric Huntington Disease Brains Have Distinct Morphologic and Metabolic Traits: the RAREST-JHD Study.

IF 2.6 4区医学 Q2 CLINICAL NEUROLOGY Movement Disorders Clinical Practice Pub Date : 2024-10-05 DOI:10.1002/mdc3.14223

Maria Eugenia Caligiuri, Emanuele Tinelli, Patrizia Vizza, Giulia Giancaterino, Francesco Cicone, Giuseppe Lucio Cascini, Umberto Sabatini, Ferdinando Squitieri

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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.

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小儿亨廷顿病大脑具有不同的形态和代谢特征：RAREST-JHD 研究。

背景：小儿亨廷顿氏病（POHD）的表型不同于成人亨廷顿氏病（AOHD），其运动障碍（如僵直、运动迟缓和肌张力障碍）少于AOHD典型的舞蹈症：目的：旨在确定 POHD（≥60 个 CAG 重复序列）特异的基于病理生理学的生物标记物：方法：使用[18F]氟-2-脱氧-d-葡萄糖（FDG）正电子发射断层扫描和磁共振成像（FDG-PET/MRI）同时进行混合成像，并使用标准化亨廷顿病（HD）量表进行临床评估。研究还进行了探索性纵向分析：结果：与AOHD（14例）相比，POHD（5例）的纹状体体积明显减少，且更为严重。在几个不同的POHD皮质区域和丘脑中出现了广泛而明显的糖代谢改变，但在AOHD皮质中却没有出现，这与临床进展的差异是一致的：结论：与AOHD患者的大脑相比，POHD患者的大脑表现出独特的形态和代谢特征，其纵向变化反映了临床进展。混合 FDG-PET/MRI 突出显示了体内不同区域的大脑功能障碍，这是 CAG 重复序列高度扩展的生物学后果。研究结果进一步证明，POHD是一种不同于AOHD的疾病。

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来源期刊

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)