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Vestibular areflexia

MedGen UID:
863489
•Concept ID:
C4015052
•
Finding
Synonym: Vestibular ataxia
 
HPO: HP:0008568
Monarch Initiative: MONDO:0100312

Definition

Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVestibular areflexia

Conditions with this feature

Autosomal recessive nonsyndromic hearing loss 36
MedGen UID:
324662
•Concept ID:
C1837007
•
Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.
See: Condition Record
Usher syndrome type 1E
MedGen UID:
400865
•Concept ID:
C1865865
•
Disease or Syndrome
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.
See: Condition Record
Vestibulocochlear dysfunction, progressive
MedGen UID:
419730
•Concept ID:
C2931176
•
Disease or Syndrome
See: Condition Record
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
MedGen UID:
482853
•Concept ID:
C3281223
•
Disease or Syndrome
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive adult-onset, slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by Szmulewicz et al., 2011).
See: Condition Record
Autosomal recessive nonsyndromic hearing loss 103
MedGen UID:
863487
•Concept ID:
C4015050
•
Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.
See: Condition Record
Autosomal recessive nonsyndromic hearing loss 103
Autosomal recessive nonsyndromic hearing loss 36
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Usher syndrome type 1E
Vestibulocochlear dysfunction, progressive

Professional guidelines

PubMed

Sensory neuronopathies, diagnostic criteria and causes.
Antoine JC
Curr Opin Neurol 2022 Oct 1;35(5):553-561. Epub 2022 Aug 11 doi: 10.1097/WCO.0000000000001105. PMID: 35950727
Cerebellar Dizziness and Vertigo: Etiologies, Diagnostic Assessment, and Treatment.
Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755
The treatment and natural course of peripheral and central vertigo.
Strupp M, Dieterich M, Brandt T
Dtsch Arztebl Int 2013 Jul;110(29-30):505-15; quiz 515-6. Epub 2013 Jul 22 doi: 10.3238/arztebl.2013.0505. PMID: 24000301Free PMC Article

Recent clinical studies

Etiology

Brain Structural Signature of RFC1-Related Disorder.
Matos PCAAP, Rezende TJR, Schmitt GS, Bonadia LC, Reis F, Martinez ARM, de Lima FD, Bueno MGA, Tomaselli PJ, Cendes F, Pedroso JL, Barsottini OGP, Marques W Jr, França M Jr
Mov Disord 2021 Nov;36(11):2634-2641. Epub 2021 Jul 9 doi: 10.1002/mds.28711. PMID: 34241918
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group
Neurology 2021 Mar 2;96(9):e1369-e1382. Epub 2021 Jan 25 doi: 10.1212/WNL.0000000000011528. PMID: 33495376Free PMC Article
Cerebellar Dizziness and Vertigo: Etiologies, Diagnostic Assessment, and Treatment.
Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755
Is Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS) a Vestibular Ganglionopathy?
Yacovino DA, Zanotti E, Hain TC
J Int Adv Otol 2019 Aug;15(2):304-308. doi: 10.5152/iao.2019.7068. PMID: 31418719Free PMC Article
The treatment and natural course of peripheral and central vertigo.
Strupp M, Dieterich M, Brandt T
Dtsch Arztebl Int 2013 Jul;110(29-30):505-15; quiz 515-6. Epub 2013 Jul 22 doi: 10.3238/arztebl.2013.0505. PMID: 24000301Free PMC Article

Diagnosis

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects.
Cortese A, Curro' R, Vegezzi E, Yau WY, Houlden H, Reilly MM
Pract Neurol 2022 Feb;22(1):14-18. Epub 2021 Aug 13 doi: 10.1136/practneurol-2020-002822. PMID: 34389644
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
Chintalaphani SR, Pineda SS, Deveson IW, Kumar KR
Acta Neuropathol Commun 2021 May 25;9(1):98. doi: 10.1186/s40478-021-01201-x. PMID: 34034831Free PMC Article
Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).
Dupré M, Hermann R, Froment Tilikete C
Cerebellum 2021 Oct;20(5):687-700. Epub 2020 Oct 4 doi: 10.1007/s12311-020-01192-w. PMID: 33011895Free PMC Article
Cerebellar Dizziness and Vertigo: Etiologies, Diagnostic Assessment, and Treatment.
Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755
The treatment and natural course of peripheral and central vertigo.
Strupp M, Dieterich M, Brandt T
Dtsch Arztebl Int 2013 Jul;110(29-30):505-15; quiz 515-6. Epub 2013 Jul 22 doi: 10.3238/arztebl.2013.0505. PMID: 24000301Free PMC Article

Therapy

Frequency-dependent tuning of the human vestibular "sixth sense" by transcranial oscillatory currents.
Rossi S, Cinti A, Viberti F, Benelli A, Neri F, De Monte D, Giannotta A, Romanella S, Smeralda C, Donniacuo A, Prattichizzo D, Pasqualetti P, Santarnecchi E, Mandalà M
Clin Neurophysiol 2023 Sep;153:123-132. Epub 2023 Jul 5 doi: 10.1016/j.clinph.2023.06.013. PMID: 37481873
Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome.
Sethna S, Zein WM, Riaz S, Giese AP, Schultz JM, Duncan T, Hufnagel RB, Brewer CC, Griffith AJ, Redmond TM, Riazuddin S, Friedman TB, Ahmed ZM
Elife 2021 Nov 9;10 doi: 10.7554/eLife.67361. PMID: 34751129Free PMC Article
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group
Neurology 2021 Mar 2;96(9):e1369-e1382. Epub 2021 Jan 25 doi: 10.1212/WNL.0000000000011528. PMID: 33495376Free PMC Article
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM
Brain 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418. PMID: 32040566Free PMC Article
Measurement of dynamic visual acuity in patients with vestibular areflexia.
Lambert S, Sigrist A, Delaspre O, Pelizzone M, Guyot JP
Acta Otolaryngol 2010 Jul;130(7):820-3. doi: 10.3109/00016480903426592. PMID: 20082568

Prognosis

Hereditary Neuropathies.
Hayes LH, Sadjadi R
Continuum (Minneap Minn) 2023 Oct 1;29(5):1514-1537. doi: 10.1212/CON.0000000000001339. PMID: 37851041
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group
Neurology 2021 Mar 2;96(9):e1369-e1382. Epub 2021 Jan 25 doi: 10.1212/WNL.0000000000011528. PMID: 33495376Free PMC Article
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Laurá M, Pipis M, Rossor AM, Reilly MM
Curr Opin Neurol 2019 Oct;32(5):641-650. doi: 10.1097/WCO.0000000000000735. PMID: 31343428
Bilateral vestibulopathy.
Strupp M, Feil K, Dieterich M, Brandt T
Handb Clin Neurol 2016;137:235-40. doi: 10.1016/B978-0-444-63437-5.00017-0. PMID: 27638075
The treatment and natural course of peripheral and central vertigo.
Strupp M, Dieterich M, Brandt T
Dtsch Arztebl Int 2013 Jul;110(29-30):505-15; quiz 515-6. Epub 2013 Jul 22 doi: 10.3238/arztebl.2013.0505. PMID: 24000301Free PMC Article

Clinical prediction guides

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Benkirane M, Da Cunha D, Marelli C, Larrieu L, Renaud M, Varilh J, Pointaux M, Baux D, Ardouin O, Vangoethem C, Taulan M, Daumas Duport B, Bergougnoux A, Corbillé AG, Cossée M, Juntas Morales R, Tuffery-Giraud S, Koenig M, Isidor B, Vincent MC
Brain 2022 Nov 21;145(11):3770-3775. doi: 10.1093/brain/awac280. PMID: 35883251
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group
Neurology 2021 Mar 2;96(9):e1369-e1382. Epub 2021 Jan 25 doi: 10.1212/WNL.0000000000011528. PMID: 33495376Free PMC Article
The Pathology of the Vestibular System in CANVAS.
Ishai R, Seyyedi M, Chancellor AM, McLean CA, Rodriguez ML, Halmagyi GM, Nadol JB Jr, Szmulewicz DJ, Quesnel AM
Otol Neurotol 2021 Mar 1;42(3):e332-e340. doi: 10.1097/MAO.0000000000002985. PMID: 33492056Free PMC Article
Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).
Dupré M, Hermann R, Froment Tilikete C
Cerebellum 2021 Oct;20(5):687-700. Epub 2020 Oct 4 doi: 10.1007/s12311-020-01192-w. PMID: 33011895Free PMC Article
Is Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS) a Vestibular Ganglionopathy?
Yacovino DA, Zanotti E, Hain TC
J Int Adv Otol 2019 Aug;15(2):304-308. doi: 10.5152/iao.2019.7068. PMID: 31418719Free PMC Article

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