"In addition to CANVAS, it is recognised that some patients carrying similar mutations in RFC1 may have incomplete CANVAS phenotypes 12. Thus, it is considered that CANVAS exists on a spectrum of disease known as RFC1-related disease 13."
"In addition to the classic triad, other commonly associated signs and symptoms of RFC1-related diseases include:"
"The pathophysiology of CANVAS is yet to be fully elucidated. There may be a genetic component implicated in CANVAS, with a pentanucleotide repeat in replication factor complex subunit 1 (RFC1) having been recognised in some patients with the disease 11. However, the pathogenic mechanism of this expansion is unclear 11."
"Familial and sporadic cases are usually caused by biallelic intronic AAGGG repeat expansions in the gene RFC1 (replication factor complex subunit 1) 8,9. Additionally, another pentanucleotide repeat expansion in RFC1, ACAGG, has also been described in Asian-Pacific patients with CANVAS 14, but this is considered rare."
"Familial and sporadic cases are usually caused by biallelic intronic AAGGG repeat expansions in the gene RFC1 (replication factor complex subunit 1) 8,9. Additionally, another pentanucleotide repeat expansion in RFC1, ACAGG, has also been described in Asian-Pacific patients with CANVAS 14, but this is considered rare."
"Familial and sporadic cases are usually caused by biallelic intronic AAGGG repeat expansions in the gene RFC1 (replication factor complex subunit 1) 8,9. Additionally, another pentanucleotide repeat expansion in RFC1, ACAGG, has also been described in Asian-Pacific patients with CANVAS 14, but this is considered rare."
"Wernicke encephalopathy"
Expected headings
"SPECT"
"Other"
"bilateral vestibulopathy: bilateral abnormal tests of the vestibulo-ocular reflex (e.g. bidirectionally abnormal head impulse test, abnormal dynamic visual acuity)"
"MRI brain is the imaging investigation of choice 6. Evidence of MRI changes in CANVAS can be nonspecific but are usually present 1-3,6. Typically, there will be focal cerebellar atrophy, with particular involvement of the vermian lobules VI, VIIA, and VIIB, as well as hemispheric cerebellar atrophy of crus I (vermian lobule VII) 1-4,6,13. Additionally, but less commonly, spinal cord atrophy may also be present 4."
"There is no disease-modifying therapy available for CANVAS. Management focuses on symptom-specific management such as vestibular rehabilitation, speech pathology monitoring and management of dysphagia, and neuropathic pain management (e.g. pregabalin) 3. The prognosis varies, but CANVAS is generally considered to be a slowly progressive condition over decades 3."