Dados do Trabalho

Título

Dysautonomia in RFC1-Related Disorder: Clinical and Neurophysiological evaluation

Resumo

Objectives: to determine the frequency and pattern of autonomic complaints in patients with RFC1-related disorder. An additional goal was to characterize and quantify the involvement of cardiac and sudomotor branches of the autonomic nervous system.
Methods: 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. 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.
Results: 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. Major differences were noticed for gastrointestinal, urinary and cardiovascular subscores. 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.
Conclusion: 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 (possibly length-dependent) autonomic axonopathy.

Palavras Chave

RFC1; CANVAS; Dysautonomia; Sudomotor function.