自主神经失调
催汗剂
轴突反射
瓦萨尔瓦机动
自主神经系统
医学
心脏病学
膈式呼吸
内科学
神经学
麻醉
反射
心率
病理
疾病
血压
替代医学
精神科
作者
Gabriel da Silva Schmitt,Fabrício Diniz de Lima,Paula Camila A.A.P. Matos,Alberto Martínez,Carelis González-Salazar,Anamarli Nucci,Wilson Marques,Orlando Graziani Póvoas Barsottini,José Luiz Pedroso,Marcondes Cavalcante França
标识
DOI:10.1016/j.clinph.2022.07.501
摘要
To characterize and quantify autonomic involvement in patients with RFC1-related disorder of adult-onset cerebellar ataxia and idiopathic sensory neuropathy.We enrolled 16 subjects with biallelic RFC1 (AAGGG)n expansions and 16 age and sex-matched healthy controls that underwent comprehensive clinical and neurophysiological evaluation. Scales for Outcomes in Parkinson's Disease Autonomic Dysfunction (SCOPA-AUT) score was used to assess autonomic symptoms. Electrophysiological testing included assessment of heart rate variability and quantitative sudomotor axon reflex test (QSART). Between-group comparisons were assessed using non-parametric tests.In the patient group, there were 9 men/7 women and the median age was 60.5 years. SCOPA-AUT scores were significantly higher in the RFC1 group compared to controls (22 vs 10, p < 0.001). Half of patients had cardiac autonomic neuropathy. In neurophysiology, there was resting tachycardia combined with abnormal responses during Valsalva maneuver and deep breathing among patients. QSART responses were also significantly reduced in the RFC1 group, especially in the lower limbs.Autonomic dysfunction is frequent, clinically relevant and involves multiple domains in RFC1-related disorder. Patients have both sympathetic and parasympathetic involvement. From a topographical perspective, this condition is characterized by a small fiber autonomic axonopathy.Dysautonomia is frequent, severe and related to peripheral damage in RFC1-related disorder.
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