Shi Yuzhi, Dong Gehong, Pan Hua, Tai Hongfei, Zhou Yi, Wang An, Niu Songtao, Chen Bin, Wang Xingao, Zhang Zaiqiang
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Department of Pathology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Ann Clin Transl Neurol. 2024 Dec;11(12):3125-3136. doi: 10.1002/acn3.52219. Epub 2024 Oct 4.
To delineate the characteristics of stroke-like episodes (SLEs) in patients with adult-onset neuronal intranuclear inclusion disease (NIID) and to compare these characteristics with those of patients with MELAS.
Twenty-three adult-onset NIID patients who presented with acute or subacute brain disorders and 13 late-onset MELAS patients were enrolled in the study. Patients with NIID were categorized into the SLEs group and the encephalopathy-like episodes (ELEs) group according to the associated stroke-like lesions (SLLs) findings. Clinical characteristics were compared between the SLEs group and the ELEs group among NIID patients and between NIID patients with SLEs and MELAS patients.
Eleven (47.8%) NIID patients who manifested acute or subacute brain disorders had detectable associated SLLs and were categorized into SLEs group. SLEs patients were more likely to report fever, headache, and seizures instead of sleep disorders than ELEs patients. Four (36.4%) NIID patients with SLEs absence of diagnostic or suggestive NIID imaging features. The clinical manifestations, laboratory test results, and neuroimaging and muscle biopsy histological features of NIID patients with SLEs majorly overlapped with those of late-onset MELAS patients. Older age at the first SLE (OR [95% CI], 1.203 [1.045-1.384]), symptoms of movement disorders on admission (OR [95% CI], 9.625 [1.378-67.246]), and white matter hyperintensity in corpus callosum (OR [95% CI], 16.00 [1.542-166.46]) associated with the NIID diagnosis in patients with SLEs.
NIID patients with SLEs exhibit evident features of mitochondrial disorders. Interventions aimed at mitochondrial dysfunction might be a promising therapeutic approach for treating this disease.
明确成人起病的神经元核内包涵体病（NIID）患者中风样发作（SLEs）的特征，并将这些特征与线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）患者的特征进行比较。
本研究纳入了23例表现为急性或亚急性脑部疾病的成人起病NIID患者和13例迟发性MELAS患者。根据相关的卒中样病变（SLLs）结果，将NIID患者分为SLEs组和脑病样发作（ELEs）组。比较NIID患者中SLEs组和ELEs组之间以及NIID的SLEs患者和MELAS患者之间的临床特征。
11例（47.8%）表现为急性或亚急性脑部疾病的NIID患者有可检测到的相关SLLs，被分类为SLEs组。与ELEs患者相比，SLEs患者更有可能报告发热、头痛和癫痫发作而非睡眠障碍。4例（36.4%）NIID的SLEs患者缺乏诊断性或提示性NIID影像学特征。NIID的SLEs患者的临床表现、实验室检查结果、神经影像学和肌肉活检组织学特征与迟发性MELAS患者的主要特征重叠。首次SLE时年龄较大（比值比[95%可信区间]，1.203[1.045 - 1.384]）、入院时运动障碍症状（比值比[95%可信区间]，9.625[1.378 - 67.246]）以及胼胝体白质高信号（比值比[9
