Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation

Gabriel da Silva Schmitt,Fabrício Diniz de Lima,Paula Camila A A P Matos,Alberto R M Martinez,Carelis González-Salazar,Anamarli Nucci,Wilson Marques,Orlando Graziani P Barsottini,José Luiz Pedroso,Marcondes Cavalcante França

Clinical Neurophysiology（2022）

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摘要

•Autonomic dysfunction involves multiple domains in RFC1-related disorder.•This condition is characterized by a small fiber autonomic axonopathy.•Sympathetic and parasympathetic divisions are affected in RFC1-related disorder.

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关键词

RFC1,CANVAS,Dysautonomia,Sudomotor function

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