Article

A Cough, Then a Decade of Silence: Living Toward a Diagnosis of CANVAS and RFC1-Related Disease

2026-08-18

Abstract excerpt

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) and the wider family of RFC1-related diseases are among the most common causes of adult-onset hereditary ataxia, yet diagnosis is frequently delayed by decades. This Patient Perspective combines the historical evolution of clinical understanding with a first-person patient account to illustrate why the disorder is so often missed, and to offe...

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Literature Corpus work: ec6558f7-6b37-543c-91b7-a7510f21c815
DOI: 10.20944/preprints202608.1132.v1

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