CANVAS syndrome

autosomal recessive adult-onset, progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy associated with repeat expansions in the RFC1 gene.

Also Known As:

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Ataxia (Dyssynergia)
2.	Bilateral Vestibulopathy

Experts

1.	Asensi, José María: 1 article (01/2022)
2.	Cabanillas, Rubén: 1 article (01/2022)
3.	Cadiñanos, Juan: 1 article (01/2022)
4.	Casanueva, Rodrigo: 1 article (01/2022)
5.	Cifuentes, Guadalupe A: 1 article (01/2022)
6.	Costales, María: 1 article (01/2022)
7.	Diñeiro, Marta: 1 article (01/2022)
8.	Gómez, Justo: 1 article (01/2022)
9.	Llorente, José Luis: 1 article (01/2022)
10.	López, Fernando: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to CANVAS syndrome:

1.	Replication Protein C (Replication Factor C)IBA 12/01/2022 - "Biallelic repeat expansions in replication factor C subunit 1 (RFC1) have recently been found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). " 01/01/2022 - "The biallelic inheritance of an expanded intronic pentamer (AAGGG)exp in the gene encoding replication factor C subunit 1 (RFC1) has been found to be a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). " 01/01/2021 - "Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) has been recently linked to biallelic expansions of a pentanucleotide repeat in the replication factor C subunit 1 (RFC1) gene. " 01/01/2023 - "The biallelic repeat expansion (AAGGG)exp in the replication factor C subunit 1 gene (RFC1) is a frequent cause of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) as well as late-onset ataxia. " 10/01/2023 - "Biallelic expansions of various tandem repeat sequence motifs are possible in RFC1 (replication factor C subunit 1), encoding the DNA replication/repair protein RFC1, yet only certain repeat motifs cause cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). "
2.	Proteins (Proteins, Gene)FDA Link 10/01/2023 - "Biallelic expansions of various tandem repeat sequence motifs are possible in RFC1 (replication factor C subunit 1), encoding the DNA replication/repair protein RFC1, yet only certain repeat motifs cause cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). "
3.	AntibodiesIBA 02/09/2021 - "More recently, new genetic and dysimmune disorders associated with SN have been described, including RFC1 gene-linked cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) and anti-FGFR3 antibodies. "
4.	fibroblast growth factor 14IBA 06/30/2023 - "Intronic GAA repeat expansions in the fibroblast growth factor 14 gene (FGF14) have recently been identified as a common cause of ataxia with potential phenotypic overlap with RFC1-related cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). "

Therapies and Procedures

1.	Denervation 01/01/2018 - "VVOR gain and vestibulo-ocular reflex (VOR) gain were analyzed with the data obtained from 35 subjects divided into four groups: healthy (N = 10), unilateral vestibular with vestibular neurectomy (N = 8), bilateral vestibulopathy (N = 12), and cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) (N = 5). "