Lee Seungmin, Kim Seoyeon, Jin Bora, Ha Su Hyeon, Jeong Chanhee, Shin Jung Hwan, Kim Han-Joon
Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Department of Neurology, Inha University Hospital, Inha University College of Medicine, Incheon, Republic of Korea.
J Neurol. 2025 Aug 7;272(9):561. doi: 10.1007/s00415-025-13292-w.
Patients initially diagnosed with idiopathic late-onset cerebellar ataxia (ILOCA) may develop multiple system atrophy cerebellar type (MSA-C). However, data on conversion time, associated clinical factors, and the role of the neurofilament light chain (NFL) in this process remain limited. This study aims to investigate the conversion from ILOCA to MSA-C and examine the associated factors and the predictive value of NFL.
This retrospective study included patients with ILOCA at the initial visit, recording the conversion to MSA-C and its duration. The median time to conversion was estimated using the Kaplan-Meier analysis. The roles of baseline orthostatic dizziness, rapid eye movement sleep behavior disorder (RBD), hot cross-bun sign, and urinary symptoms in conversion were analyzed. In a subset of patients, NFL levels in plasma collected before conversion were measured to examine their ability to predict conversion.
Seventy-two patients with ILOCA at the initial visit were included, of whom 32 experienced conversion to MSA-C. The median time-to-conversion was 5.0 years. RBD or orthostatic dizziness at baseline was associated with conversion, whereas hot cross-bun sign and urinary symptoms demonstrated no significant effect. Receiver operating characteristic analysis revealed moderate discriminative ability (area under the curve: 0.69) when NFL, orthostatic dizziness, and age at blood collection were included.
This study identified that orthostatic dizziness and RBD, assessable in outpatient settings, correlated with ILOCA-to-MSA-C progression. Additionally, the NFL may play an auxiliary role in estimating the conversion time. Therefore, further studies incorporating diverse clinical and serological markers are required.
最初被诊断为特发性迟发性小脑共济失调（ILOCA）的患者可能会发展为多系统萎缩小脑型（MSA-C）。然而，关于转化时间、相关临床因素以及神经丝轻链（NFL）在此过程中的作用的数据仍然有限。本研究旨在调查从ILOCA到MSA-C的转化情况，并检查相关因素以及NFL的预测价值。
这项回顾性研究纳入了初次就诊时患有ILOCA的患者，记录其向MSA-C的转化情况及其持续时间。使用Kaplan-Meier分析估计转化的中位时间。分析基线体位性头晕、快速眼动睡眠行为障碍（RBD）、热交叉面包征和泌尿系统症状在转化中的作用。在一部分患者中，测量转化前采集的血浆中NFL水平，以检查其预测转化的能力。
纳入了72例初次就诊时患有ILOCA的患者，其中32例转化为MSA-C。转化的中位时间为5.0年。基线时的RBD或体位性头晕与转化相关，而热交叉面包征和泌尿系统症状未显示出显著影响。受试者工作特征分析显示，当纳入NFL、体位性头晕和采血时的年龄时，具有中等判别能力（曲线下面积：0.69）。
本研究发现，门诊可评估的体位性头晕和RBD与ILOCA向MSA-C的进展相关。此外，NFL可能在估计转化时间方面起辅助作用。因此，需要进一步纳入多种临床和血清学标志物的研究。
