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帕金森病患者 LRRK2 和 GBA1 伴轻度认知障碍。

Mild cognitive impairment among LRRK2 and GBA1 patients with Parkinson's disease.

机构信息

Faculty of Medicine, Tel-Aviv University, Israel; Movement Disorders Unit, Neurological Institute, Tel-Aviv Medical Center, Israel; Laboratory of Early Markers of Neurodegeneration, Neurological Institute, Tel-Aviv Medical Center, Israel; Sagol School of Neuroscience, Tel-Aviv University, Israel.

Faculty of Medicine, Tel-Aviv University, Israel; Movement Disorders Unit, Neurological Institute, Tel-Aviv Medical Center, Israel.

出版信息

Parkinsonism Relat Disord. 2024 Jun;123:106970. doi: 10.1016/j.parkreldis.2024.106970. Epub 2024 Apr 16.

Abstract

BACKGROUND

Mild cognitive impairment (MCI) is common in Parkinson's disease (PD). We aimed to assess the incidence of MCI among patients with PD, carriers of mutations in LRRK2 and GBA1 genes, based on the movement disorder society (MDS) criteria for the diagnosis of MCI in early-stage PD.

METHODS

Patients with PD were included if they scored ≤2 on the Hoehn and Yahr and ≤6 years since motor symptom onset. A group of age and gender matched healthy adults served as controls. A neuropsychological cognitive battery was used covering five cognitive domains (executive functions, working memory, memory, visuospatial and language). MCI was explored while applying two methods (level I and II). Frequency of MCI was assessed in comparison between groups.

RESULTS

70 patients with idiopathic PD (iPD) (68 % males), 42 patients with LRRK2-PD (61 % males), 83 patients with GBA1-PD (63 % males) and 132 age and gender matched controls (61 % males), participated in this study. PD groups were similar in clinical characteristics. Level I criteria were positive in 57.5 % of iPD, 43 % of LRRK2-PD and 63.4 % of the GBA1-PD (p = 0.071). Level II criteria was met by 39 % of iPD, 14 % LRRK2-PD and 41 % of GBA1-PD (p < 0.001), when using a 2 standard-deviation (SD) threshold. GBA1-PD and iPD showed impairments on multiple domains even in the more conservative 2 SD, reflecting MCI.

CONCLUSIONS

The majority of our PD cohort was classified as MCI when assessed with strict criteria. GBA1-PD and iPD showed a more widespread pattern of MCI compared with LRRK2-PD.

摘要

背景

轻度认知障碍(MCI)在帕金森病(PD)中很常见。我们旨在根据运动障碍协会(MDS)对早期 PD 患者 MCI 的诊断标准,评估 PD 患者、LRRK2 和 GBA1 基因突变携带者中 MCI 的发生率。

方法

纳入的 PD 患者评分≤2 分(Hoehn 和 Yahr 量表),且运动症状出现后≤6 年。一组年龄和性别匹配的健康成年人作为对照。使用涵盖五个认知领域(执行功能、工作记忆、记忆、视空间和语言)的神经心理学认知测试套件。通过应用两种方法(一级和二级)来探索 MCI。评估 MCI 的频率,并在组间进行比较。

结果

70 名特发性 PD(iPD)患者(68%为男性)、42 名 LRRK2-PD 患者(61%为男性)、83 名 GBA1-PD 患者(63%为男性)和 132 名年龄和性别匹配的对照者(61%为男性)参与了本研究。PD 组在临床特征上相似。一级标准在 iPD 中阳性率为 57.5%,LRRK2-PD 中为 43%,GBA1-PD 中为 63.4%(p=0.071)。使用 2 个标准差(SD)阈值时,iPD、LRRK2-PD 和 GBA1-PD 分别符合二级标准的分别为 39%、14%和 41%(p<0.001)。即使在更严格的 2 SD 下,GBA1-PD 和 iPD 也表现出多个领域的损伤,反映出 MCI。

结论

当使用严格的标准评估时,我们的 PD 队列中的大多数患者被归类为 MCI。与 LRRK2-PD 相比,GBA1-PD 和 iPD 表现出更广泛的 MCI 模式。

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