From the Department of Neurology (A.H., K.A.J., E.J.S., J.E.A.), Mayo Clinic, Rochester, MN; Department of Neurology (S.O.M.), Cleveland Clinic Abu Dhabi, United Arab Emirates; and Department of Neurology (W.T.H.), Emory University, Atlanta, GA.
Neurology. 2021 Apr 27;96(17):e2231-e2238. doi: 10.1212/WNL.0000000000011771. Epub 2021 Feb 26.
To assess whether primary lateral sclerosis (PLS), classified as pure when the EMG is normal, converts to amyotrophic lateral sclerosis (ALS) after longitudinal follow-up.
Retrospective chart review was performed of patients with pure PLS at Mayo Clinic in Rochester, MN (1990-2016). Inclusion criteria required a normal EMG during the first 4 years of symptoms.
Forty-three patients had pure PLS (25 female, 58%) with a median onset age of 50 years (range 38-78 years) and median follow-up at 9 years' disease duration (range 4-36 years). The ascending paraparesis phenotype (n = 30, 70%) was most common, followed by hemiparetic onset (n = 9, 21%) and bulbar onset (n = 4, 9%). Among the 30 paraparetic-onset cases, bladder symptoms (n = 18, 60%) and dysarthria (n = 15, 50%) were more common than pseudobulbar affect (n = 9, 30%) and dysphagia (n = 8, 27%). By the last follow-up, 17 of 30 (56%) used a cane and 6 (20%) required a wheelchair. The paraparetic variant, compared with hemiparetic and bulbar onset, had the youngest onset (48 vs 56 vs 60 years, respectively; = 0.02). Five patients died; 1 patient required a feeding tube; and none required permanent noninvasive ventilation. Two patients developed an idiopathic multisystem neurodegenerative disorder, which surfaced after 19 and 20 years. Two patients developed minor EMG abnormalities. The remainder 39 had persistently normal EMGs.
Pure PLS did not convert to ALS after a median of 9 years' disease duration follow-up in our study population. The ascending paraparetic phenotype was most common, with earlier onset and frequent bladder involvement. After years of pure PLS, <5% develop a more pervasive neurodegenerative disorder.
评估原发性侧索硬化症（PLS）是否会在纵向随访后转化为肌萎缩侧索硬化症（ALS），当电肌图正常时，将其归类为单纯型 PLS。
对明尼苏达州罗切斯特市梅奥诊所（1990-2016 年）的单纯 PLS 患者进行回顾性图表审查。纳入标准要求在症状的前 4 年内电肌图正常。
43 例患者患有单纯 PLS（25 例女性，占 58%），中位发病年龄为 50 岁（范围 38-78 岁），中位随访时间为 9 年（范围 4-36 年）。最常见的是上升性截瘫表型（n=30，70%），其次是偏瘫发作（n=9，21%）和球部发作（n=4，9%）。在 30 例截瘫发作病例中，膀胱症状（n=18，60%）和构音障碍（n=15，50%）比假性延髓影响（n=9，30%）和吞咽困难（n=8，27%）更常见。在最后一次随访时，30 例中有 17 例（56%）使用拐杖，6 例（20%）需要轮椅。与偏瘫和球部发作相比，截瘫变异型的发病年龄最小（分别为 48 岁、56 岁和 60 岁；=0.02）。5 例患者死亡；1 例患者需要胃管；无一例需要永久性非侵入性通气。2 例患者发生特发性多系统神经退行性疾病，在 19 年和 20 年后出现。2 例患者出现轻微的肌电图异常。其余 39 例患者的肌电图持续正常。
在我们的研究人群中，在中位 9 年疾病随访后，单纯 PLS 并未转化为 ALS。上升性截瘫表型最为常见，发病年龄较早，膀胱受累频繁。在多年的单纯 PLS 后，<5%的患者会发展为更普遍的神经退行性疾病。
