当前多系统萎缩症的临床诊断全景：2008 年至 2022 年的 15 年分析。

Current Landscape of Clinical Diagnosis in Multiple System Atrophy: A 15-Year Analysis From 2008 to 2022.

机构信息

From the Department of Neuroscience (H.S., M.K., S.K., A.M., A.R.M., D.W.D.), and Department of Neurology (P.W.T., R.J.U., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL.

出版信息

Neurology. 2024 Dec 10;103(11):e210021. doi: 10.1212/WNL.0000000000210021. Epub 2024 Nov 12.

DOI:10.1212/WNL.0000000000210021

Abstract

BACKGROUND AND OBJECTIVES

Clinical diagnosis of multiple system atrophy (MSA) is challenging. In 2022, new diagnostic criteria for MSA were proposed. We hypothesized that the positive predictive value (PPV) of clinical diagnosis of MSA improved because of advanced diagnostic tools, including brain MRI. This study aimed to understand temporal changes in PPV of MSA.

METHODS

We conducted a retrospective analysis of patients clinically diagnosed with MSA whose brains were examined in the Mayo Clinic brain bank from 2008 to 2022. PPV was compared between 2 periods (2008-2017 and 2018-2022) and successively with a 4-year moving average. PPV for each clinical subtype (parkinsonism type [MSA-P] and cerebellar type [MSA-C]) was assessed.

RESULTS

This study included 321 patients (136 women, age at death 68 ± 9 years) with a clinical diagnosis of MSA. Among them, 225 were pathologically confirmed as MSA, resulting in an overall PPV of 70%. The remaining 30% had alternative pathologic diagnoses including Lewy body disease (18%), progressive supranuclear palsy (4%), cerebrovascular disease (1%), corticobasal degeneration (1%), and others (6%). PPV improved from 63% in 2008-2017 to 78% in 2018-2022 (odds ratio [OR] 2.0 [1.2-3.5], = 0.005). Linear analysis also demonstrated increased PPV over time ( = 0.66 [0.14-0.89], = 0.02). Brain MRI scans were more frequently performed in 2018-2022 compared with 2008-2017 (91% vs 80%; OR 2.4 [1.2-5.0], = 0.012). PPV was higher in patients with brain MRI compared with those without (73% vs 52%; OR 2.5 [1.3-4.9], = 0.0057). PPV for MSA-C was similar in both groups (87% in 2008-2017 and 93% in 2018-2022), while that for MSA-P improved from 59% in 2008-2017 to 72% in 2018-2022 (OR 1.8 [1.0-3.2], = 0.04).

DISCUSSION

This study demonstrates an improvement in the PPV of MSA in recent years, potentially attributed to the increased use of brain MRI. Nevertheless, it also highlights that it remains difficult to make a correct diagnosis for some patients based on their clinical presentation. These findings provide a baseline for future clinicopathologic research on MSA.

摘要

背景与目的

多系统萎缩（MSA）的临床诊断具有挑战性。2022 年，提出了新的 MSA 诊断标准。我们假设，由于包括脑部 MRI 在内的先进诊断工具的应用，MSA 的临床诊断阳性预测值（PPV）有所提高。本研究旨在了解 MSA 的 PPV 随时间的变化情况。

方法

我们对在梅奥诊所脑库接受脑部检查的 2008 年至 2022 年间临床诊断为 MSA 的患者进行了回顾性分析。比较了 2008-2017 年和 2018-2022 年两个时期的 PPV，并与 4 年移动平均值进行了比较。评估了每个临床亚型（帕金森病型[MSA-P]和小脑型[MSA-C]）的 PPV。

结果

本研究共纳入 321 例（女性 136 例，死亡时年龄 68±9 岁）临床诊断为 MSA 的患者。其中，225 例经病理证实为 MSA，总体 PPV 为 70%。其余 30%的患者有其他病理诊断，包括路易体病（18%）、进行性核上性麻痹（4%）、脑血管病（1%）、皮质基底节变性（1%）和其他疾病（6%）。2008-2017 年的 PPV 为 63%，2018-2022 年为 78%（比值比[OR]2.0[1.2-3.5]， = 0.005）。线性分析也表明，随着时间的推移，PPV 呈上升趋势（ = 0.66[0.14-0.89]， = 0.02）。与 2008-2017 年相比，2018-2022 年进行脑部 MRI 检查的比例更高（91% vs 80%；OR 2.4[1.2-5.0]， = 0.012）。与无脑部 MRI 的患者相比，有脑部 MRI 的患者的 PPV 更高（73% vs 52%；OR 2.5[1.3-4.9]， = 0.0057）。2008-2017 年和 2018-2022 年 MSA-C 的 PPV 相似（分别为 87%和 93%），而 MSA-P 的 PPV 从 2008-2017 年的 59%提高到 2018-2022 年的 72%（OR 1.8[1.0-3.2]， = 0.04）。