Cerebellar ataksi-neuropati-vestibulær arefleksi-syndrom

Tua Vinther-Jensen; Morten Dunø; Harpa Maria Ingolfsdottir; Christian Krarup; Jørgen E Nielsen; Johannes K Jakobsen

Cerebellar ataksi-neuropati-vestibulær arefleksi-syndrom

Tua Vinther-Jensen, Morten Dunø, Harpa Maria Ingolfsdottir, Christian Krarup, Jørgen E Nielsen, Johannes K Jakobsen^*

^*Corresponding author af dette arbejde

Abstract

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.

Bidragets oversatte titel	Cerebellar ataxia-neuropathy-vestibular areflexia-syndrome
Originalsprog	Dansk
Artikelnummer	V06220383
Tidsskrift	Ugeskrift for Laeger
Vol/bind	185
Udgave nummer	19
ISSN	0041-5782
Status	Udgivet - 8 maj 2023

Emneord

Humans
Cerebellar Ataxia/diagnosis
Bilateral Vestibulopathy
Vestibular Diseases/diagnosis
Peripheral Nervous System Diseases
Syndrome

Andre filer og links

https://ugeskriftet.dk/videnskab/cerebellaer-ataksi-neuropati-og-vestibulaer-arefleksi-syndrom-canvas

Citationsformater

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year = "2023",

month = may,

day = "8",

language = "Dansk",

volume = "185",

journal = "Ugeskrift for Laeger",

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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 -

Cerebellar ataksi-neuropati-vestibulær arefleksi-syndrom

Abstract

Emneord

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