与 RAB32 S71R 变异相关的帕金森病的 18F-FDG PET 研究结果。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders Pub Date : 2025-02-28 DOI:10.1016/j.parkreldis.2025.107343

Francesco Cavallieri , Alessandro Fraternali , Annachiara Arnone , Valentina Fioravanti , Edoardo Monfrini , Francesca Di Biasio , Giulia Toschi , Giulia Di Rauso , Giacomo Portaro , Sara Grisanti , Gaetano Salomone , Teresa Kleinz , Paola Mandich , Jefri J. Paul , Christian Beetz , Peter Bauer , Ji Hyun Ko , Matteo Bauckneht , Andrea Melpignano , Angelina Filice , Franco Valzania

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引用次数: 0

摘要

目的：RAB32 S71R变体与常染色体显性帕金森病（RAB32-PD）有关，与富亮氨酸重复激酶-2（LRRK2）基因具有共同的生物学机制。用 18F- 氟脱氧葡萄糖（FDG）PET 测量葡萄糖代谢的区域性差异可能会加深对 RAB32 相关帕金森病和非变异帕金森病（NM-PD）神经机制的理解。在这篇简短的通讯中，我们比较了 8 例 RAB32-PD 和一组 NM-PD 的 FDG-PET 研究结果：大脑 FDG-PET 研究是在慢性多巴胺能治疗的 ON 药物状态下进行的。所有图像均归一化为标准 FDG-PET 模板，然后使用市售全自动后处理软件（Cortex ID SUITE，GE Healthcare）进行半定量分析。临床评估包括 MDS-统一帕金森病评分量表（MDS-UPDRS）和蒙特利尔认知评估（MoCA）。组间连续变量的比较采用曼-惠特尼检验（Mann-Whitney test），名义/顺序变量的比较采用卡方检验（chi-squared test）：8例RAB32-PD患者（男性：3/8；年龄：65.38岁[±8.73]；病程：10.50年[±5.88]；H&Y：2.81[±1.22]；MDS-UPDRS-III：36.38[±25.34]；MoCA：24.88[±5.86]）和 19 例 NM-PD 患者（男性：11/19；年龄：60.53 岁[±8.00]；病程：8.68 年[±5.70]；H&Y：2.39 [±.51]；MDS-UPDRS-III：29.95 [±11.14]；MoCA：24.21 [±6.07]）。RAB32-PD和NM-PD队列的FDG-PET数据和临床变量在统计学上未发现明显差异。在大多数 RAB-32 PD 患者中，观察到顶叶代谢普遍低下，这与之前报道的 LRRK2 相关 PD 和 NM-PD 的研究结果相似：本研究首次描述了RAB32-PD患者的FDG-PET发现，强调了LRRK2-和NM-PD可能存在类似的代谢低下模式。要证实这些初步结果，还需要与匹配的可比对照组进行更多的研究。

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18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variant

Objective

The RAB32 S71R variant has been linked to autosomal dominant Parkinson's disease (RAB32-PD), sharing common biological mechanisms with the leucine-rich repeat kinase-2 (LRRK2) gene. Measurement of regional differences in glucose metabolism with 18F-fluorodeoxyglucose (FDG) PET may improve the understanding of the neural mechanisms of RAB32-related PD and non-mutated PD (NM-PD). In this brief communication, we compared FDG-PET findings of eight RAB32-PD with a cohort of NM-PD.

Methods

Brain FDG-PET study was performed during the ON medication condition under chronic dopaminergic treatment. All images were normalized to a standard FDG-PET template, then a semi‐quantitative analysis was performed on a commercially available fully‐automated post‐processing software (Cortex ID SUITE, GE Healthcare). Clinical assessment included the MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and the Montreal Cognitive Assessment (MoCA). Continuous variables between groups were compared through the Mann-Whitney test while nominal/ordinal variables through the chi-squared test.

Results

Eight RAB32-PD patients (males:3/8; age:65.38 years [±8.73]; disease duration:10.50 years [±5.88]; H&Y:2.81[±1.22]; MDS-UPDRS-III:36.38 [±25.34]; MoCA:24.88[±5.86]) and 19 NM-PD patients (males:11/19; age:60.53 years [±8.00]; disease duration:8.68 years [±5.70]; H&Y:2.39 [±.51]; MDS-UPDRS-III:29.95 [±11.14]; MoCA:24.21 [±6.07]) were included. No statistically significant differences in FDG-PET data and clinical variables were found between RAB32-PD and NM-PD cohorts. In the majority of RAB-32 PD patients a prevalent parietal hypometabolism was observed, similar to previous findings reported in LRRK2-related PD and NM-PD.

Interpretation

This study represents the first description of FDG-PET findings in RAB32-PD patients, highlighting a possible similar pattern of hypometabolism with LRRK2- and NM-PD. Additional studies with matched and comparable control cohorts are needed to confirm these preliminary results.

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来源期刊

Parkinsonism & related disorders 医学-临床神经学

CiteScore

6.20

自引率

4.90%

发文量

292

审稿时长

39 days

期刊介绍： Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.