Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia …

E Palones, E Curto, V Plaza, L Gonzalez-Quereda… - Journal of …, 2024 - Springer
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is
an hereditary autosomal recessive disease. Recent studies propose including chronic …

[HTML][HTML] RFC1: Motifs and phenotypes

V Delforge, C Tard, JB Davion, K Dujardin… - Revue …, 2024 - Elsevier
Biallelic intronic expansions (AAGGG) exp in intron 2 of the RFC1 gene have been shown to
be a common cause of late-onset ataxia. Since their first description, the phenotypes …

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): a family with five affected sibs from Turkey

F Gökçay, GN Baskan, I Şahbaz, MK Koç, AN Başak… - BMC neurology, 2024 - Springer
Background Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), a
relatively common cause of late-onset progressive ataxia, is a genetic disease characterised …

[HTML][HTML] Bilateral vestibulopathy

FK SM, BT DM - Handb Clin Neurol. https://doi. org/10.1016/B978-0 …, 2016 - medlink.com
The author explains the clinical presentation, pathophysiology, prevention, diagnostic work-
up, and management of bilateral vestibulopathy. Gait ataxia and oscillopsia are the key …

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Developmental Malformations Epilepsy & Seizures General Child Neurology General …