Ramanathan Ramnath Santosh, Rana Sandeep
Staff Neurology, Vascular Neurology, Akron Neurology, Inc., 3632 Ridgewood Road, Akron, OH 44333, USA.
Temple University School of Medicine, Neurology Residency Program Director, Neuromuscular Department Director, Allegheny Health Network, 420 E North Ave, Suite 206, Pittsburgh, PA 15212, USA.
Neurodegener Dis Manag. 2018 Feb;8(1):17-23. doi: 10.2217/nmt-2017-0051. Epub 2018 Jan 10.
Primary lateral sclerosis (PLS) is a form of motor neuron disease involving only upper motor neurons. In some patients presenting as PLS, the disease progresses to involve lower motor neurons and thereby converting to amyotrophic lateral sclerosis (ALS). However, pure forms of PLS do exist. Our aim was to study epidemiological and clinical characteristics of pure PLS patients treated at our neuromuscular clinic.
We retrospectively reviewed 15 patients from July 2011 to October 2014 with PLS treated at the neuromuscular disorder clinic at our hospital. Data collection included patient demographics, age and site of onset, duration of symptoms and duration of follow-up. We also studied clinical features such as bulbar involvement; pseudobulbar affect; depression; spasms/pain; bladder involvement; diagnostic work up, in other words, MRI; brain/electromyography findings; clinical course, namely years to wheelchair; and need for gastrostomy tube requirement baclofen pump placement. We also tried to find a correlation between PLS and environmental factors such as urban/suburban/rural living, consumption of well water, socioeconomic status/occupation and history of trauma.
Male-to-female ratio was 1:2, mean age at onset of symptoms was 58.6 years, with the oldest patient being an 84-year-old female at the time of onset of symptoms. Mean duration of follow-up was 51 months. Mean duration of symptoms was 77.4 months. About eight (53%) patients presented with bulbar symptoms in the form of spastic speech and dysphagia, pseudobulbar affect, developed depression and had bladder involvement. Seven (47%) patients presented with symmetric spasticity in the extremities. A third of the patients required baclofen for spasticity and a third required gastrostomy tube placement for dysphagia. None of them had abnormal neuroimaging or electrodiagnostic testing. Only one patient had history of trauma. About half of the patients were from lower socioeconomic status as well as middle class. One of the patients had consumed well water during younger years and three (20%) patients lived in the rural area.
Though on review of literature there is no clear consensus about the existence of PLS as a distinct disease entity, we believe that there are rare cases of motor neuron disease with progressive upper motor neuron symptoms that throughout their course never convert to ALS. Our series highlights the demographic and clinical features of these patients and underscores the longer survival of these patients when compared with ALS.
原发性侧索硬化症（PLS）是一种仅累及上运动神经元的运动神经元疾病形式。在一些表现为PLS的患者中，疾病会进展至累及下运动神经元，进而转变为肌萎缩侧索硬化症（ALS）。然而，纯形式的PLS确实存在。我们的目的是研究在我们神经肌肉诊所接受治疗的纯PLS患者的流行病学和临床特征。
我们回顾性分析了2011年7月至2014年10月期间在我院神经肌肉疾病诊所接受治疗的15例PLS患者。数据收集包括患者人口统计学资料、发病年龄和部位、症状持续时间以及随访时间。我们还研究了临床特征，如延髓受累情况；假性延髓麻痹；抑郁；痉挛/疼痛；膀胱受累情况；诊断检查，即磁共振成像（MRI）；脑/肌电图检查结果；临床病程，即达到需使用轮椅的年限；以及是否需要放置胃造瘘管和巴氯芬泵。我们还试图找出PLS与环境因素之间的相关性，如城市/郊区/农村居住情况、井水饮用情况、社会经济地位/职业以及外伤史。
男女比例为1:2，症状开始时的平均年龄为58.6岁，症状开始时年龄最大的患者为一名84岁女性。平均随访时间为51个月。平均症状持续时间为77.4个月。约8例（53%）患者出现延髓症状，表现为痉挛性言语和吞咽困难、假性延髓麻痹、出现抑郁且有膀胱受累。7例（47%）患者出现四肢对称性痉挛。三分之一的患者因痉挛需要使用巴氯芬，三分之一的患者因吞咽困难需要放置胃造瘘管。他们均未出现神经影像学或电诊断检查异常。只有1例患者有外伤史。约一半的患者来自社会经济地位较低以及中产阶级。其中1例患者年轻时饮用过井水，3例（20%）患者居住在农村地区。
尽管在文献回顾中，对于PLS作为一种独特疾病实体的存在尚无明确共识，但我们认为存在罕见的运动神经元疾病病例，其具有进行性上运动神经元症状，且在整个病程中从未转变为ALS。我们的系列研究突出了这些患者的人口统计学和临床特征，并强调了与ALS相比，这些患者的生存期更长。
