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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.
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.
Vestibulocochlear dysfunction, progressive
MedGen UID:
419730
Concept ID:
C2931176
Disease or Syndrome
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).
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.

Professional guidelines

PubMed

Antoine JC
Curr Opin Neurol 2022 Oct 1;35(5):553-561. Epub 2022 Aug 11 doi: 10.1097/WCO.0000000000001105. PMID: 35950727
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
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

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
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
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
Laurá M, Pipis M, Rossor AM, Reilly MM
Curr Opin Neurol 2019 Oct;32(5):641-650. doi: 10.1097/WCO.0000000000000735. PMID: 31343428
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

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
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
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
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
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

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
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
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
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
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

Hayes LH, Sadjadi R
Continuum (Minneap Minn) 2023 Oct 1;29(5):1514-1537. doi: 10.1212/CON.0000000000001339. PMID: 37851041
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium, Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A
Brain 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. PMID: 37450567Free PMC Article
Laurá M, Pipis M, Rossor AM, Reilly MM
Curr Opin Neurol 2019 Oct;32(5):641-650. doi: 10.1097/WCO.0000000000000735. PMID: 31343428
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
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

Turner RD, Hirons B, Cortese A, Birring SS
Lung 2023 Dec;201(6):511-519. Epub 2023 Nov 18 doi: 10.1007/s00408-023-00660-4. PMID: 37979058Free PMC Article
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium, Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A
Brain 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. PMID: 37450567Free PMC Article
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
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
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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