1型、2型、3型和6型脊髓小脑共济失调中的吞咽困难。
Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6.
作者信息
Yang Chen-Ya, Lai Ruo-Yah, Amokrane Nadia, Lin Chi-Ying, Figueroa Karla P, Pulst Stefan M, Perlman Susan, Wilmot George, Gomez Christopher M, Schmahmann Jeremy D, Paulson Henry, Shakkottai Vikram G, Rosenthal Liana S, Ying Sarah H, Zesiewicz Theresa, Bushara Khalaf, Geschwind Michael, Xia Guangbin, Subramony S H, Ashizawa Tetsuo, Troche Michelle S, Kuo Sheng-Han
机构信息
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Initiative for Columbia Ataxia and Tremor, Columbia University, New York, NY, USA; Department of Physical Medicine and Rehabilitation, Taichung Veterans General Hospital, Chiayi and Wanqiao Branch, Chiayi, Taiwan.
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Initiative for Columbia Ataxia and Tremor, Columbia University, New York, NY, USA.
出版信息
J Neurol Sci. 2020 Aug 15;415:116878. doi: 10.1016/j.jns.2020.116878. Epub 2020 May 4.
BACKGROUND
Dysphagia is a common symptom and may be a cause of death in patients with spinocerebellar ataxias (SCAs). However, little is known about at which disease stage dysphagia becomes clinically relevant. Therefore, our study aims to investigate the prevalence of dysphagia in different disease stages of SCA 1, 2, 3 and 6.
METHODS
We studied 237 genetically confirmed patients with SCA 1, 2, 3, 6 from the Clinical Research Consortium for SCAs and investigated the prevalence of self-reported dysphagia and the association between dysphagia and other clinical characteristics. We further stratified ataxia severity and studied the prevalence of dysphagia at each disease stage.
RESULTS
Dysphagia was present in 59.9% of SCA patients. Patients with dysphagia had a longer disease duration and more severe ataxia than patients without dysphagia (patients with dysphagia vs. without dysphagia, disease duration (years): 14.51 ± 8.91 vs. 11.22 ± 7.82, p = .001, scale for the assessment and rating of ataxia [SARA]: 17.90 ± 7.74 vs. 13.04 ± 7.51, p = .000). Dysphagia was most common in SCA1, followed by SCA3, SCA 6, and SCA 2. Dysphagia in SCA1 and 3 was associated robustly with ataxia severity, whereas this association was less obvious in SCA2 and 6, demonstrating genotype-specific clinical variation.
CONCLUSION
Dysphagia is a common clinical symptom in SCAs, especially in the severe disease stage. Understanding dysphagia in SCA patients can improve the care of these patients and advance knowledge on the roles of the cerebellum and brainstem control in swallowing.
背景
吞咽困难是脊髓小脑共济失调（SCA）患者的常见症状，且可能是导致患者死亡的原因。然而，对于吞咽困难在哪个疾病阶段变得具有临床相关性，人们知之甚少。因此，我们的研究旨在调查SCA 1、2、3和6不同疾病阶段吞咽困难的患病率。
方法
我们研究了来自SCA临床研究联盟的237例基因确诊的SCA 1、2、3、6患者，调查了自我报告的吞咽困难患病率以及吞咽困难与其他临床特征之间的关联。我们进一步对共济失调严重程度进行分层，并研究每个疾病阶段吞咽困难的患病率。
结果
59.9%的SCA患者存在吞咽困难。有吞咽困难的患者比无吞咽困难的患者病程更长，共济失调更严重（有吞咽困难的患者与无吞咽困难的患者相比，病程（年）：14.51±8.91对11.22±7.82，p = .001，共济失调评估和评级量表[SARA]：17.90±7.74对13.04±7.51，p = .000）。吞咽困难在SCA1中最常见，其次是SCA3、SCA 6和SCA 2。SCA1和3中的吞咽困难与共济失调严重程度密切相关，而在SCA2和6中这种关联不太明显, 表明存在基因型特异性临床变异。
结论
吞咽困难是SCA患者的常见临床症状，尤其是在疾病严重阶段。了解SCA患者的吞咽困难情况可以改善对这些患者的护理，并增进对小脑和脑干控制在吞咽中作用的认识。
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