Tatineni Swetha, Jarrouj George, Gomez Christopher M, Baird Brandon J
Pritzker School of Medicine, University of Chicago Chicago Illinois USA.
Rosalind Franklin University of Medicine and Science Chicago Illinois USA.
Laryngoscope Investig Otolaryngol. 2023 Apr 26;8(3):730-738. doi: 10.1002/lio2.1067. eCollection 2023 Jun.
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a common cause of late-onset ataxia that often presents with chronic cough. This study is the first to characterize the CANVAS cough both objectively and subjectively.
A cross-sectional study of 13 patients was conducted. Medical records and available esophagram, modified barium swallow study, esophageal manometry, and video laryngostroboscopy data were reviewed. Leicester cough questionnaire (LCQ) and Eating Assessment Tool-10 were administered to evaluate quality of life (QoL) impairments and dysphagia symptoms, respectively. CANVAS history questionnaire was developed to characterize the clinical course.
92% of patients endorsed chronic cough that preceded gait instability by a median of 16 years. Cough was dry (67%), disturbed sleep (75%), triggered by various factors, including talking, eating, and dry/spicy foods, did not respond to standard reflux therapy, and inconsistently responded to neuromodulators and superior laryngeal nerve injections. Despite perceived cough severity worsening or remaining constant in most patients, no correlation was found between cough duration and total LCQ scores. Patients reported significantly more negative social QoL impacts compared to physical QoL impacts. Ataxia duration and years of cough before ataxia symptoms were directly and inversely correlated with total LCQ scores, respectively. Imaging data revealed esophageal dysmotility (71%), vestibular penetration (57%), vestibular aspiration (14%), supraglottic compression (63%), vocal fold lesions/atrophy (50%), and arytenoid erythema (38%).
Chronic cough is a hallmark presenting symptom in CANVAS with predominantly psychosocial QoL effects and unrecognized laryngeal alterations. In cases of idiopathic, refractory chronic cough, genetic testing for CANVAS should be considered, especially in association with sensory, cerebellar, and/or vestibular involvement.
VI.
伴有神经病变和前庭反射消失综合征的小脑性共济失调（CANVAS）是迟发性共济失调的常见病因，常伴有慢性咳嗽。本研究首次对CANVAS咳嗽进行了客观和主观特征描述。
对13例患者进行了横断面研究。回顾了病历以及可用的食管造影、改良钡餐吞咽研究、食管测压和视频喉动态镜检查数据。分别采用莱斯特咳嗽问卷（LCQ）和进食评估工具-10来评估生活质量（QoL）损害和吞咽困难症状。编制了CANVAS病史问卷以描述临床病程。
92%的患者认可存在慢性咳嗽，咳嗽比步态不稳提前出现，中位时间为16年。咳嗽为干咳（67%），干扰睡眠（75%），由多种因素触发，包括说话、进食以及干燥/辛辣食物，对标准反流治疗无反应，对神经调节剂和喉上神经注射的反应不一致。尽管大多数患者感觉咳嗽严重程度加重或保持不变，但未发现咳嗽持续时间与LCQ总分之间存在相关性。与身体QoL影响相比，患者报告的负面社会QoL影响明显更多。共济失调持续时间和共济失调症状出现前的咳嗽年数分别与LCQ总分呈正相关和负相关。影像学数据显示食管运动障碍（71%）、前庭穿透（57%）、前庭误吸（14%）、声门上压迫（63%）、声带病变/萎缩（50%）和杓状软骨红斑（38%）。
慢性咳嗽是CANVAS的标志性症状，主要对心理社会QoL产生影响，且存在未被认识的喉部改变。在特发性、难治性慢性咳嗽病例中，应考虑对CANVAS进行基因检测，尤其是在伴有感觉、小脑和/或前庭受累的情况下。
VI级
