Liu Tina, Johnson Monica, Badihian Negin, Harmsen William S, Mandrekar Jay, Jackson Lauren M, Benarroch Eduardo E, Sandroni Paola, Low Phillip A, Singer Wolfgang, Coon Elizabeth A
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Department of Neurology, University of Nebraska Medical Center, Omaha, NE, USA.
Cerebellum. 2024 Dec 5;24(1):2. doi: 10.1007/s12311-024-01761-3.
To determine predicting factors and frequency of phenoconversion from sporadic adult-onset ataxia (SAOA) to multiple system atrophy (MSA). We performed a retrospective review of all patients referred for cerebellar ataxia from 1998 to 2018 at Mayo Clinic, Minnesota. We analyzed clinical features, autonomic testing, and imaging for predictors of later diagnosis of MSA. Among 169 patients with ataxia at presentation, 60 (35.5%) phenoconverted to MSA. Clinical features in MSA phenoconverters included: early autonomic symptoms, stridor, and dream enactment behavior. Imaging features in phenoconverters included pontine atrophy and hot cross bun sign. On autonomic testing, MSA phenoconverters had higher supine blood pressures with larger drops, higher median composite autonomic severity scores, and higher percentage anhidrosis than patients with SAOA. Our findings show that at least a third of patients with SAOA phenoconverted to MSA. Clinical features, autonomic testing, and imaging at presentation may be helpful to identify such patients.
确定散发性成人起病共济失调（SAOA）向多系统萎缩（MSA）表型转化的预测因素及频率。我们对1998年至2018年在明尼苏达州梅奥诊所因小脑共济失调转诊的所有患者进行了回顾性研究。我们分析了临床特征、自主神经检测及影像学检查结果，以寻找MSA后期诊断的预测因素。在169例初诊为共济失调的患者中，60例（35.5%）发生了向MSA的表型转化。MSA表型转化者的临床特征包括：早期自主神经症状、喘鸣及快速眼动期行为障碍。表型转化者的影像学特征包括脑桥萎缩及“热交叉面包征”。自主神经检测显示，与SAOA患者相比，MSA表型转化者仰卧位血压更高且下降幅度更大、自主神经综合严重程度评分中位数更高、无汗百分比更高。我们的研究结果表明，至少三分之一的SAOA患者会发生向MSA的表型转化。初诊时的临床特征、自主神经检测及影像学检查可能有助于识别此类患者。
