Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS): A Multisymptomatic Neurologic Disease
A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Systems Neuroscience".
Deadline for manuscript submissions: 30 April 2024 | Viewed by 134
Special Issue Editor
Special Issue Information
Dear Colleagues,
Initial descriptions of CANVAS (cerebellar ataxia, sensory neuronopathy and vestibular areflexia) were reported in the 1990s, although, its genetic defect was not found until 2019, when two groups described the expansion of the pentanucleotide AAGGG in intron two of the RFC1 gene responsible for most cases of CANVAS. It is estimated that the carrier frequency of the pathogenic AAGGG could reach 6.5% of the population. The expansion of the pathogenic alleles ranges from 400 to 2,000 repeats. Others pathogenic and non-pathogenic expansion, as point mutations, has been recently described in the RFC1gene. The underlying pathogenic mechanisms of RFC1 expansions have not been resolved yet, although it is well established that dorsal root ganglia and cerebellar neuronal loss occurs in CANVAS.
CANVAS is a multisystem syndrome, wherein sensory neuropathy is one of the most consistent findings, accompanied with cerebellar and vestibular dysfunction symptoms. Patients harboring a biallelic expansion in the RFC1 gene may also present with small fiber neuropathy, autonomic symptoms, chronic cough, cognitive impairment, and Parkinsonism.
This Special Issue of Brain Sciences aims to provide readers with comprehensive and up-to-date studies pertaining to basic and clinical research in CANVAS that unravel the pathogenic mechanisms and clarify the clinical manifestations in CANVAS, potentially enhancing the patients’ quality of life. We cordially invite you to submit both original articles and review papers to this Special Issue.
Dr. Germán Morís
Guest Editor
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Keywords
- CANVAS
- cerebellar ataxia
- sensitive neuropathy
- vestibular areflexia syndrome
- chronic cough
