Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
National Clinical Research Center for Geriatric Diseases, Beijing, China.
J Parkinsons Dis. 2024;14(6):1211-1223. doi: 10.3233/JPD-240040.
While multiple system atrophy (MSA) presents with high heterogeneous motor and nonmotor symptoms, the associations between clinical phenotypes and prognosis are unclear.
We aimed to evaluate clinical phenotypes of MSA using data-driven approach and measure the impact of phenotypes on survival and bedbound status.
193 MSA patients were recruited from Xuanwu Hospital Capital Medical University, whose history, motor and non-motor symptoms were examined using cluster analysis. Ninety-five participants were followed-up via telephone after a mean of 31.87 months. We employed Kaplan- Meier analysis to examine survival and performed Cox and logistic regression analyses to identify factors associated with survival and bedbound status.
We identified four clinical profiles of MSA: cerebellar symptom-dominant, sleep and mood disorder-dominant, rigid akinetic-dominant, and malignant diffuse. The overall median survival was 7.75 years (95% CI 7.19-8.31). After adjusting for years from symptom onset to diagnosis, age and sex, patients in the malignant diffuse and rigid akinetic-dominant clusters had greater risk of death than sleep and mood disorder-dominant cluster. Furthermore, patients in the malignant diffuse and rigid akinetic-dominant clusters had higher risk of being bedbound than cerebellar symptom-dominant cluster.
The malignant diffuse and sleep and mood disorder-dominant were identified besides the two classical subtypes, parkinsonism, and cerebellar symptom-variant. Patients with rigid-akinetic motor profiles have a worse prognosis than cerebellar symptom-dominant profiles in general. Diffuse symptoms, especially postural instability, and cognitive alterations at diagnosis, indicate rapid functional loss and disease progression. The different profiles and prognoses might indicate varied underlying pathological mechanisms.
尽管多系统萎缩（MSA）表现出高度异质性的运动和非运动症状，但临床表型与预后之间的关系尚不清楚。
我们旨在使用数据驱动的方法评估 MSA 的临床表型，并测量表型对生存和卧床状态的影响。
从首都医科大学宣武医院招募了 193 名 MSA 患者，使用聚类分析检查了他们的病史、运动和非运动症状。在平均 31.87 个月后，通过电话对 95 名参与者进行了随访。我们采用 Kaplan-Meier 分析来检查生存情况，并进行了 Cox 和逻辑回归分析，以确定与生存和卧床状态相关的因素。
我们确定了 MSA 的四种临床表型：小脑症状占主导、睡眠和情绪障碍占主导、僵硬运动不能占主导和恶性弥漫型。总体中位生存期为 7.75 年（95%CI7.19-8.31）。在调整症状出现到诊断的年限、年龄和性别后，恶性弥漫型和僵硬运动不能占主导的患者死亡风险高于睡眠和情绪障碍占主导的患者。此外，恶性弥漫型和僵硬运动不能占主导的患者卧床的风险高于小脑症状占主导的患者。
除了两个经典亚型（帕金森病和小脑症状变异型）外，还确定了恶性弥漫型和睡眠和情绪障碍占主导型。一般来说，僵硬运动不能型运动表型的患者预后比小脑症状占主导型的患者差。弥漫性症状，特别是姿势不稳和认知改变，在诊断时，表明快速的功能丧失和疾病进展。不同的表型和预后可能表明不同的潜在病理机制。
