Cerebellar ataxia, neuropathy, vestibular areflexia syndrome explained
| Cerebellar ataxia with neuropathy and vestibular areflexia syndrome |
| Treatment: | Supportive care, genetic counselling. |
| Diagnosis: | Genetic testing. |
| Duration: | Chronic. |
| Onset: | 4060 years old |
| Symptoms: | Difficulty walking, poor coordination, decreased sensation, chronic cough, dysphagia. |
| Field: | Neurology |
| Frequency: | Unknown |
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present. Clinical findings include ataxia, sensory neuropathy, and absence of the vestibulo–ocular reflex. The syndrome was initially described in 2004.[1] In 2019, the cause was identified as biallelic pentanucleotide expansion in the RFC1 gene. [2] [3] __TOC__
Treatment
Specific treatment is lacking. A multidisciplinary approach to supportive care is recommended.
Prognosis
The progression is typically slow, with 55% of patients needing mobility aids 10 years after onset, and 25% needing a wheelchair after 15 years.[4]
Epidemiology
The prevalence of the disease is currently unknown, largely owing to its recent description and delineation from other forms of autosomal recessive cerebellar ataxia.
References
- Migliaccio. Americo A.. Halmagyi. G. Michael. McGarvie. Leigh A.. Cremer. Phillip D.. 2004-02-01. Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. Brain: A Journal of Neurology. 127. Pt 2. 280–293. 10.1093/brain/awh030. 0006-8950. 14607788. free.
- Houlden. Andrea. Simone. Roberto. Sullivan. Roisin. Vandrovcova. Jana. Tariq. Huma. Yau. Wai Yan. Humphrey. Jack. Jaunmuktane. Zane. Sivakumar. Prasanth. Polke. James. Ilyas. Muhammad. 2019-03-29. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics. en. 51. 4. 649–658. 10.1038/s41588-019-0372-4. 30926972. 1546-1718. 6709527.
- Benkirane. Vincent. Da Cunha. Isidor. Koenig. Marelli. Tuffery-Giraud. Larrieu. Cossée. 2022-07-27. RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology. Brain. en. 10.1093/brain/awac280. 35883251 .
- Cortese. Andrea. Tozza. Stefano. Yau. Wai Yan. Rossi. Salvatore. Beecroft. Sarah J. Jaunmuktane. Zane. Dyer. Zoe. Ravenscroft. Gianina. Lamont. Phillipa J. Mossman. Stuart. Chancellor. Andrew. 2020-02-10. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain. 143. 2. 480–490. 10.1093/brain/awz418. 0006-8950. 7009469. 32040566.
