ArticleBMJ case reports2023
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): diagnostic contribution of vestibular function tests.
Article in BMJ case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a recently recognised but underdiagnosed cause of late-onset hereditary ataxia. Symptoms may vary, and differential diagnoses can span several specialties. We report the case of a man in his 60 s who presented with a 10 year history of imbalance and progressive gait disturbance associated with a chronic spasmodic cough that preceded these symptoms by almost 30 years. He had previously undergone extensive testing for acquired and genetic causes of ataxia without a conclusive diagnosis. Brain MRI revealed cerebellar atrophy, and nerve conduction tests suggested a sensory ganglionopathy. Vestibular function testing was crucial for diagnosis, identifying a severe bilateral vestibulopathy. This led to the consideration of CANVAS, which was finally confirmed by genetic testing. This case raises awareness of this novel genetic disease, highlighting the importance of objective vestibular function tests in establishing an early diagnosis.
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