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特发性快速眼动睡眠行为障碍患者的唇腺中有α-突触核蛋白聚集。

α-Synuclein aggregates in labial salivary glands of idiopathic rapid eye movement sleep behavior disorder.

机构信息

Neurology Service, Hospital Clínic de Barcelona, Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Barcelona, Spain.

Otorhinolaryngology Service, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red sobre Enfermedades Respiratorias, Bunyola, Spain.

出版信息

Sleep. 2018 Aug 1;41(8). doi: 10.1093/sleep/zsy101.

Abstract

STUDY OBJECTIVES

To assess whether biopsy of the labial minor salivary glands safely detects phosphorylated α-synuclein (pAS) deposits in idiopathic rapid eye movement sleep behavior disorder (IRBD), a condition that precedes the cardinal manifestations of synuclein disorders associated with Lewy-type pathology, namely, Parkinson's disease (PD) and dementia with Lewy bodies (DLB).

METHODS

In a prospective study, labial biopsy of the minor salivary glands was performed in 62 patients with IRBD, 13 patients with PD, and 10 patients with DLB who were initially diagnosed with IRBD, and in 33 controls. Aggregates of pAS were assessed by immunohistochemistry using antiserine 129-pAS antibody and the conformation-specific 5G4 antibody.

RESULTS

Sufficient biopsy material containing glandular parenchyma was obtained in all participants. Deposits of pAS were found in 31 of 62 (50%) participants with IRBD, 7 of 13 (54%) with PD, 5 of 10 (50%) with DLB, and in one of the 33 (3%) controls. Participants with IRBD, PD, and DLB with and without pAS immunoreactivity did not differ in demographic and clinical features. Adverse events were lip bruising (9.2%), swelling (6.6%), pain (2.4%), and numbness (1.7%) which were mild and transitory and did not require treatment.

CONCLUSIONS

Labial minor salivary glands biopsy proved to be a safe and useful procedure to identify pAS in participants with IRBD, and in participants with PD and DLB initially diagnosed with IRBD. The biopsy provides direct histopathological evidence that IRBD represents a synucleinopathy and that could be useful for histological confirmation of synuclein pathology in PD and DLB.

摘要

研究目的

评估唇腺活检是否能安全地检测特发性快速眼动睡眠行为障碍(IRBD)患者中磷酸化α-突触核蛋白(pAS)沉积物,IRBD 是与路易体病理相关的突触核蛋白病的主要表现(帕金森病(PD)和路易体痴呆(DLB))之前的一种情况。

方法

在一项前瞻性研究中,对 62 例 IRBD 患者、13 例 PD 患者和 10 例最初诊断为 IRBD 的 DLB 患者以及 33 名对照者进行了唇腺活检。使用抗丝氨酸 129-pAS 抗体和构象特异性 5G4 抗体通过免疫组织化学评估 pAS 聚集物。

结果

所有参与者均获得了足够的包含腺实质的活检材料。在 62 例 IRBD 参与者中,31 例(50%)、13 例 PD 参与者中 7 例(54%)、10 例 DLB 参与者中 5 例(50%)和 33 例对照者中 1 例(3%)发现了 pAS 沉积物。有无 pAS 免疫反应的 IRBD、PD 和 DLB 参与者在人口统计学和临床特征方面没有差异。不良事件为唇部瘀伤(9.2%)、肿胀(6.6%)、疼痛(2.4%)和麻木(1.7%),这些都是轻度和短暂的,不需要治疗。

结论

唇腺活检被证明是一种安全且有用的方法,可在 IRBD 参与者以及最初诊断为 IRBD 的 PD 和 DLB 参与者中识别 pAS。活检提供了直接的组织病理学证据,表明 IRBD 代表一种突触核蛋白病,这对于 PD 和 DLB 中突触核蛋白病理学的组织学确认可能有用。

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