Jeong Eun Hye, Lee Jae Yong, Han Sun-Ku, Song Yoo Sung
Department of Neurology, Bundang Jesaeng General Hospital, Seongnam-si, Gyeonggi-do, Republic of Korea.
Department of Nuclear Medicine, Seoul National University Bundang Hospital, Seongnam-si, Gyeonggi-do, Republic of Korea.
Front Neurol. 2023 Oct 25;14:1276251. doi: 10.3389/fneur.2023.1276251. eCollection 2023.
The extensive clinical variations observed in Parkinson's disease (PD) pose challenges in early diagnosis and treatment initiation. However, genetic research in PD has significantly transformed the clinical approach to its treatment. Moreover, researchers have adopted a subtyping strategy based on homogeneous clinical symptoms to improve clinical diagnosis and treatment approaches. We conducted a study to explore clinical characteristics in genetic PD groups with motor symptom subtyping.
Data was driven from the Parkinson's Progression Markers Initiative (PPMI) database. The sporadic PD (sPD) group and the genetic PD group including patients with leucine-rich kinase 2 () or glucosylceramidase β () mutations were analyzed. Motor subtyping was performed using Movement Disorder Society-Unified Parkinson's disease rating scale (MDS-UPDRS) scores. I-123 FP-CIT SPECT scans were used to calculate specific binding ratios (SBRs) in the caudate and putamen. Clinical symptoms of each group were also compared.
MDS-UPDRS III scores were lower in the group, compared with the and sPD group ( < 0.001), but no significant differences in striatal SBRs. The putaminal SBR value of the group was higher than the sPD group ( < 0.05). Within the group, we observed lower SBR values in the postural instability/gait difficulty (PIGD) subtype group compared to the tremor-dominant (TD) subtype group ( < 0.05). The TD subtype group exhibited superior putaminal SBRs compared to the TD subtype sPD group ( < 0.05). The TD subtype group had better putaminal SBR values ( < 0.001) and MDS-UPDRS Part III scores ( < 0.05) compared to the TD sPD group.
Our subtyping approach offers valuable insights into the clinical characteristics and progression of different genetic PD subtypes. To further validate and expand these findings, future research with larger groups and long-term follow-up data is needed. The subtyping strategy based on motor symptoms holds promise in enhancing the diagnosis and treatment of genetic PD.
帕金森病（PD）中观察到的广泛临床变异对早期诊断和开始治疗构成挑战。然而，PD的基因研究显著改变了其临床治疗方法。此外，研究人员采用了基于同质临床症状的亚型分类策略，以改善临床诊断和治疗方法。我们进行了一项研究，以探索具有运动症状亚型分类的遗传性PD组的临床特征。
数据来自帕金森病进展标志物倡议（PPMI）数据库。分析了散发性PD（sPD）组和包括富含亮氨酸激酶2（）或葡糖脑苷脂酶β（）突变患者的遗传性PD组。使用运动障碍协会统一帕金森病评定量表（MDS-UPDRS）评分进行运动亚型分类。I-123 FP-CIT SPECT扫描用于计算尾状核和壳核中的特异性结合率（SBRs）。还比较了每组的临床症状。
与组和sPD组相比，组的MDS-UPDRS III评分较低（<0.001），但纹状体SBRs无显著差异。组的壳核SBR值高于sPD组（<0.05）。在组内，我们观察到姿势不稳/步态困难（PIGD）亚型组的SBR值低于震颤为主（TD）亚型组（<0.05）。与TD亚型sPD组相比，TD亚型组表现出更高的壳核SBRs（<0.05）。与TD sPD组相比，TD亚型组的壳核SBR值更好（<0.001），MDS-UPDRS第三部分评分更低（<0.05）。
我们的亚型分类方法为不同遗传性PD亚型的临床特征和进展提供了有价值的见解。为了进一步验证和扩展这些发现，需要进行更大样本量和长期随访数据的未来研究。基于运动症状的亚型分类策略在改善遗传性PD的诊断和治疗方面具有前景。
