Nandanwar Deepmala, Truong Daniel D
The Parkinson and Movement Disorder Institute, 9940 Talbert Avenue, Fountain Valley, CA 92708, USA.
Clin Park Relat Disord. 2024 Sep 18;11:100271. doi: 10.1016/j.prdoa.2024.100271. eCollection 2024.
Multiple system atrophy (MSA) is a heterogenous condition, presenting with core clinical features of autonomic dysfunction, parkinsonism, and/or cerebellar ataxia. The presence of alpha-synuclein glial cytoplasmic inclusion is the hallmark of MSA. It shares a common pathological origin with Parkinson's disease (PD) and Lewy body dementia (DLB) and they are collectively grouped as "synucleinopathies." The pathological synuclein protein is now well- recognized in skin biopsies of these patients. Besides the pathological findings, radiological investigation is a useful diagnostic tool. Brain MRI helps rule out other etiologies, and findings like the "Hot-cross bun" sign, "putaminal atrophy," and "infratentorial findings" can assist with the diagnosis of MSA. Cardiac MIBG scan, autonomic testing, urodynamic studies can help differentiate MSA from other conditions. Although diagnostic tools are available for MSA diagnosis, clarity is needed on when to use these tests. We suggest a diagnostic algorithm to navigate the use of these tests. However, this algorithm is not intended to replace the use of current MDS diagnostic criteria of MSA.
多系统萎缩(MSA)是一种异质性疾病,具有自主神经功能障碍、帕金森综合征和/或小脑共济失调等核心临床特征。α-突触核蛋白胶质细胞胞质内包涵体的存在是MSA的标志。它与帕金森病(PD)和路易体痴呆(DLB)有着共同的病理起源,它们被统称为“突触核蛋白病”。现在,在这些患者的皮肤活检中,病理性突触核蛋白已得到充分认识。除了病理检查结果外,影像学检查也是一种有用的诊断工具。脑部磁共振成像(MRI)有助于排除其他病因,像“热十字面包”征、“壳核萎缩”和“幕下表现”等结果可辅助MSA的诊断。心脏间碘苄胍(MIBG)扫描、自主神经功能测试、尿动力学研究有助于将MSA与其他疾病区分开来。虽然有用于MSA诊断的工具,但在何时使用这些检查方面仍需要明确。我们提出一种诊断算法来指导这些检查的使用。然而,该算法并非旨在取代当前MSA的多系统萎缩诊断标准(MDS)的使用。