Cavallieri Francesco, Fraternali Alessandro, Arnone Annachiara, Fioravanti Valentina, Monfrini Edoardo, Di Biasio Francesca, Toschi Giulia, Di Rauso Giulia, Portaro Giacomo, Grisanti Sara, Salomone Gaetano, Kleinz Teresa, Mandich Paola, Paul Jefri J, Beetz Christian, Bauer Peter, Ko Ji Hyun, Bauckneht Matteo, Melpignano Andrea, Filice Angelina, Di Fonzo Alessio, Klein Christine, Strafella Antonio P, Valzania Franco
Neurology Unit, Neuromotor and Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Nuclear Medicine Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Parkinsonism Relat Disord. 2025 May;134:107343. doi: 10.1016/j.parkreldis.2025.107343. Epub 2025 Feb 28.
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.
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.
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.
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.
RAB32基因S71R变异已与常染色体显性帕金森病（RAB32-PD）相关联，与富含亮氨酸重复激酶2（LRRK2）基因具有共同的生物学机制。使用18F-氟脱氧葡萄糖（FDG）PET测量葡萄糖代谢的区域差异，可能有助于加深对RAB32相关帕金森病和非突变型帕金森病（NM-PD）神经机制的理解。在本简短通讯中，我们比较了8例RAB32-PD患者与一组NM-PD患者的FDG-PET检查结果。
在慢性多巴胺能治疗的药物“开”期进行脑部FDG-PET研究。所有图像均根据标准FDG-PET模板进行标准化，然后在市售的全自动后处理软件（Cortex ID SUITE，通用电气医疗集团）上进行半定量分析。临床评估包括MDS统一帕金森病评定量表（MDS-UPDRS）和蒙特利尔认知评估量表（MoCA）。组间连续变量通过曼-惠特尼检验进行比较，名义/有序变量通过卡方检验进行比较。
纳入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分级：2.81[±1.22]；MDS-UPDRS-III评分：36.38[±25.34]；MoCA评分：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分级：2.39[±0.51]；MDS-UPDRS-III评分：29.95[±11.14]；MoCA评分：24.21[±6.07]）。RAB32-PD组和NM-PD组之间在FDG-PET数据和临床变量方面未发现统计学上的显著差异。在大多数RAB-32 PD患者中观察到顶叶普遍代谢减低，这与先前在LRRK2相关帕金森病和NM-PD中报道的结果相似。
本研究首次描述了RAB32-PD患者的FDG-PET检查结果，突出了其与LRRK2相关帕金森病和NM-PD可能相似的代谢减低模式。需要更多匹配且可比的对照队列研究来证实这些初步结果。
