Clinical Snapshot
A 50-Year Cough: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS)
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A patient in their seventies reported having suffered from a dry cough and throat-clearing on a daily basis for around 50 years, the cause of which had not yet been identified despite multiple medical consultations. On this particular occasion, the patient presented due to a 10-year-history of progressive gait disorder, which was particularly pronounced in the dark. Rapid movements of the head caused them vision to wobble, and they experienced tingling sensations in their feet. There was no family history of neurological disorders. A clinical examination including neurological and instrument-based assessments revealed cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Genetic testing found a biallelic pathogenic AAGGG repeat expansion in the RFC1 gene, which was identified in 2019 as the cause of CANVAS. This genetic alteration has a high prevalence of up to 1:2500 in Germany. The clinical presentation of CANVAS is often incomplete. The initial symptom in approximately 60% of patients is a chronic cough that is often misinterpreted as a tic. This is caused by degeneration of cranial, in particular autonomic, ganglia.
Dr. med. Hannes Erdmann, M.Sc. (Chemie), Prof. Dr. med. Angela Abicht,
Medizinisch Genetisches Zentrum (MGZ) München und Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik,
LMU Klinikum, Ludwig-Maximilians-Universität München, hannes.erdmann@mgz-muenchen.de
Prof. Dr. med. Dr. h.c. Michael Strupp, Neurologische Klinik und Poliklinik, LMU Klinikum, Ludwig-Maximilians-Universität München
Conflict of interest statement: The authors state that no conflict of interest exists.
Translated from the original German by Christine Rye.
Cite this as: Erdmann H, Abicht A, Strupp M: A 50-year cough: cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS).
Dtsch Arztebl Int 2025; 122: 167. DOI: 10.3238/arztebl.m2024.0247
