Cerebellar ataksi-neuropati-vestibulær arefleksi-syndrom

Translated title of the contribution: Cerebellar ataxia-neuropathy-vestibular areflexia-syndrome


CANVAS including its clinical components of cerebellar ataxia, sensory neuropathy and vestibular areflexia is presented in this review. An intronic biallelic pentanucleotide expansion in RFC1 is the genetic cause of CANVAS. Several patients diagnosed with isolated "idiopathic" neurological or otological conditions might have a CANVAS spectrum disorder. The number of CANVAS patients may well increase considerably in the near future, making it important to consider the diagnostic set-up and infrastructure for counselling, treatment and follow-up in the Danish healthcare system.

Translated title of the contributionCerebellar ataxia-neuropathy-vestibular areflexia-syndrome
Original languageDanish
Article numberV06220383
JournalUgeskrift for Laeger
Issue number19
Publication statusPublished - 8 May 2023


Dive into the research topics of 'Cerebellar ataxia-neuropathy-vestibular areflexia-syndrome'. Together they form a unique fingerprint.

Cite this