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Tua Vinther-Jensen1,2, Morten Dunø3, Harpa Maria Ingolfsdottir4

  • 1Neurogenetisk Klinik og Forskningslaboratorium, Hukommelsesklinikken, Afdeling for Hjerne- og Nervesygdomme, Københavns Universitetshospital - Rigshospitalet.

Ugeskrift for Laeger
|May 12, 2023
PubMed
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Cerebellar ataxia, sensory neuropathy, and vestibular areflexia (CANVAS) is caused by an RFC1 gene expansion. Recognizing CANVAS spectrum disorders is crucial for accurate diagnosis and patient care.

Area of Science:

  • Neurology
  • Genetics

Background:

  • Cerebellar ataxia, sensory neuropathy, and vestibular areflexia (CANVAS) is a rare neurological disorder.
  • The genetic basis of CANVAS has been identified as an intronic biallelic pentanucleotide expansion in the RFC1 gene.

Approach:

  • This review discusses the clinical presentation and genetic underpinnings of CANVAS.
  • It highlights the potential for CANVAS spectrum disorders to be misdiagnosed as isolated neurological or otological conditions.

Key Points:

  • The RFC1 gene expansion is the definitive genetic cause of CANVAS.
  • Patients with "idiopathic" neurological or otological symptoms may have an undiagnosed CANVAS spectrum disorder.
  • Early and accurate diagnosis is essential for appropriate management.

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Conclusions:

  • The prevalence of CANVAS may increase, necessitating a review of diagnostic protocols.
  • The Danish healthcare system needs to prepare for increased CANVAS diagnoses, including infrastructure for counseling, treatment, and follow-up.
  • Increased awareness and diagnostic capabilities for CANVAS are vital for improving patient outcomes.