Tang Haiyan, Yao Jianping, Wang Zhuang
Department of Neurology, Huzhou Central Hospital, The Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, The Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, People's Republic of China.
Department of Endocrinology, Huzhou Central Hospital, The Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, The Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, People's Republic of China.
Degener Neurol Neuromuscul Dis. 2025 Sep 10;15:95-100. doi: 10.2147/DNND.S531647. eCollection 2025.
Amyotrophic lateral sclerosis (ALS) and multiple system atrophy (MSA) are both neurodegenerative disorders. While ALS may present with clinical features resembling Parkinsonism, there have been no definitive reports of ALS mimicking MSA, only cases of Primary lateral sclerosis (PLS) mimicking Parkinsonism.
This article reports a case of ALS presenting with Parkinsonism and anxiety as the initial symptoms. Five years after the initial diagnosis of MSA, the patient developed signs of lower motor neuron involvement, including fasciculations and muscle atrophy, ultimately leading to a revised diagnosis of ALS. This study combines literature analysis to explore the reasons for misdiagnosis and identifies key differentiating features.
Specifically, muscle rigidity in ALS is characterized by a velocity-dependent increase in muscle tone caused by damage to the upper motor neurons. This symptom tends to be more pronounced in the lower limbs than in the upper limbs and is often accompanied by spastic gait. Objective examinations may reveal early atrophy of the frontal and temporal lobes of the cerebrum on head magnetic resonance (MR) imaging, whereas F-FDG brain positron emission tomography (PET) may reveal reduced metabolism in the frontal and parietal lobes of the cerebrum with normal basal ganglial function, distinguishing ALS from basal ganglial metabolic decline in MSA.
To our knowledge, this is the first case of ALS misdiagnosed as MSA. Clinically, patients with parkinsonism who do not respond to dopaminergic drugs should be cautious about atypical ALS. Muscle rigidity manifesting as upper motor neuron damage, and MR and F-FDG brain PET imaging can provide early differential diagnosis indicators.
肌萎缩侧索硬化症（ALS）和多系统萎缩症（MSA）均为神经退行性疾病。虽然ALS可能表现出类似帕金森综合征的临床特征，但尚无明确报道称ALS会模仿MSA，仅有原发性侧索硬化症（PLS）模仿帕金森综合征的病例。
本文报告了一例以帕金森综合征和焦虑为初始症状的ALS病例。在最初诊断为MSA五年后，患者出现了下运动神经元受累的体征，包括肌束震颤和肌肉萎缩，最终导致诊断修订为ALS。本研究结合文献分析探讨误诊原因并确定关键鉴别特征。
具体而言，ALS中的肌肉僵硬表现为上运动神经元受损导致的肌张力随速度依赖性增加。这种症状在下肢往往比在上肢更明显，且常伴有痉挛性步态。头颅磁共振成像（MR）检查可能显示大脑额叶和颞叶早期萎缩，而氟代脱氧葡萄糖脑正电子发射断层扫描（F-FDG脑PET）可能显示大脑额叶和顶叶代谢降低，基底节功能正常，这将ALS与MSA中基底节代谢下降区分开来。
据我们所知，这是首例被误诊为MSA的ALS病例。临床上，对多巴胺能药物无反应的帕金森综合征患者应警惕非典型ALS。表现为上运动神经元损伤的肌肉僵硬以及MR和F-FDG脑PET成像可提供早期鉴别诊断指标。
