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Ann Neurol ; 95(3): 607-613, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38062616

ABSTRACT

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, autosomal recessive neurodegenerative disorder caused by biallelic AAGGG/ACAGG repeat expansion (AAGGG-exp/ACAGG-exp) in RFC1. The recent identification of patients with CANVAS exhibiting compound heterozygosity for AAGGG-exp and truncating variants supports the loss-of-function of RFC1 in CANVAS patients. We investigated the pathological changes in 2 autopsied patients with CANVAS harboring biallelic ACAGG-exp and AAGGG-exp. RNA fluorescence in situ hybridization of the 2 patients revealed CCTGT- and CCCTT-containing RNA foci, respectively, in neuronal nuclei of tissues with neuronal loss. Our findings suggest that RNA toxicity may be involved in the pathogenesis of CANVAS. ANN NEUROL 2024;95:607-613.


Subject(s)
Bilateral Vestibulopathy , Cerebellar Ataxia , Peripheral Nervous System Diseases , Humans , Cerebellar Ataxia/genetics , In Situ Hybridization, Fluorescence , RNA , Syndrome
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