TY - JOUR
T1 - Cerebellar ataksi-neuropati-vestibulær arefleksi-syndrom
AU - Vinther-Jensen, Tua
AU - Dunø, Morten
AU - Ingolfsdottir, Harpa Maria
AU - Krarup, Christian
AU - Nielsen, Jørgen E
AU - Jakobsen, Johannes K
PY - 2023/5/8
Y1 - 2023/5/8
N2 - 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.
AB - 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.
KW - Humans
KW - Cerebellar Ataxia/diagnosis
KW - Bilateral Vestibulopathy
KW - Vestibular Diseases/diagnosis
KW - Peripheral Nervous System Diseases
KW - Syndrome
UR - https://ugeskriftet.dk/videnskab/cerebellaer-ataksi-neuropati-og-vestibulaer-arefleksi-syndrom-canvas
M3 - Review
C2 - 37170740
SN - 0041-5782
VL - 185
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
IS - 19
M1 - V06220383
ER -