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Upbeat nystagmus

MedGen UID:
107943
Concept ID:
C0585545
Finding; Finding
Synonyms: Upbeat central nystagmus; Upbeat central vestibular nystagmus
SNOMED CT: Upbeat nystagmus (307677002); Upbeat central nystagmus (307677002); Upbeat central vestibular nystagmus (307677002)
 
HPO: HP:0011477

Definition

In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUpbeat nystagmus

Conditions with this feature

Spinocerebellar ataxia type 27
MedGen UID:
373075
Concept ID:
C1836383
Disease or Syndrome
Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare.

Professional guidelines

PubMed

Mehta AR, Kennard C
Pract Neurol 2012 Jun;12(3):147-53. doi: 10.1136/practneurol-2011-000181. PMID: 22661344
Straube A, Bronstein A, Straumann D; European Federation of Neurologic Societies
Eur J Neurol 2012 Jan;19(1):6-14. Epub 2011 Sep 12 doi: 10.1111/j.1468-1331.2011.03503.x. PMID: 21906211
Straube A
Expert Opin Pharmacother 2005 Apr;6(4):583-90. doi: 10.1517/14656566.6.4.583. PMID: 15934884

Recent clinical studies

Etiology

Strupp M, Kremmyda O, Brandt T
Semin Neurol 2013 Jul;33(3):286-96. Epub 2013 Sep 21 doi: 10.1055/s-0033-1354594. PMID: 24057832
Strupp M, Thurtell MJ, Shaikh AG, Brandt T, Zee DS, Leigh RJ
J Neurol 2011 Jul;258(7):1207-22. Epub 2011 Apr 2 doi: 10.1007/s00415-011-5999-8. PMID: 21461686Free PMC Article
Pierrot-Deseilligny C
Ann N Y Acad Sci 2009 May;1164:155-65. doi: 10.1111/j.1749-6632.2009.03864.x. PMID: 19645894
Kumar A, Patni AH, Charbel F
Otol Neurotol 2002 Sep;23(5):727-35. doi: 10.1097/00129492-200209000-00021. PMID: 12218627
Elliott AJ, Simpson EM, Oakhill A, Decock R
Dev Med Child Neurol 1989 Feb;31(1):43-6. doi: 10.1111/j.1469-8749.1989.tb08410.x. PMID: 2920872

Diagnosis

Zhu W, Steenerson KK, Kattah JC
J Neurol 2023 Mar;270(3):1713-1720. Epub 2022 Dec 15 doi: 10.1007/s00415-022-11514-z. PMID: 36520241
Strupp ML, Straumann D, Helmchen C
Klin Monbl Augenheilkd 2021 Nov;238(11):1186-1195. Epub 2021 Nov 16 doi: 10.1055/a-1525-0030. PMID: 34784642
Strupp M, Hüfner K, Sandmann R, Zwergal A, Dieterich M, Jahn K, Brandt T
Dtsch Arztebl Int 2011 Mar;108(12):197-204. Epub 2011 Mar 25 doi: 10.3238/arztebl.2011.0197. PMID: 21505601Free PMC Article
Brandt T, Dieterich M
J Vestib Res 1993 Spring;3(1):3-14. PMID: 8275242
Brandt T, Strupp M
Curr Opin Neurol Neurosurg 1992 Oct;5(5):727-32. PMID: 1356523

Therapy

Zhu W, Steenerson KK, Kattah JC
J Neurol 2023 Mar;270(3):1713-1720. Epub 2022 Dec 15 doi: 10.1007/s00415-022-11514-z. PMID: 36520241
Kalla R, Teufel J, Feil K, Muth C, Strupp M
J Neurol 2016 Apr;263 Suppl 1:S24-9. Epub 2016 Apr 15 doi: 10.1007/s00415-015-7987-x. PMID: 27083881Free PMC Article
Mehta AR, Kennard C
Pract Neurol 2012 Jun;12(3):147-53. doi: 10.1136/practneurol-2011-000181. PMID: 22661344
Brandt T, Zwergal A, Strupp M
Expert Opin Pharmacother 2009 Jul;10(10):1537-48. doi: 10.1517/14656560902976879. PMID: 19527184
Straube A
Expert Opin Pharmacother 2005 Apr;6(4):583-90. doi: 10.1517/14656566.6.4.583. PMID: 15934884

Prognosis

Strupp M, Kremmyda O, Adamczyk C, Böttcher N, Muth C, Yip CW, Bremova T
J Neurol 2014 Sep;261 Suppl 2(Suppl 2):S542-58. doi: 10.1007/s00415-014-7385-9. PMID: 25145891Free PMC Article
Brandt T, Zwergal A, Strupp M
Expert Opin Pharmacother 2009 Jul;10(10):1537-48. doi: 10.1517/14656560902976879. PMID: 19527184
Rousseaux M, Dupard T, Lesoin F, Barbaste P, Hache JC
J Neurol Neurosurg Psychiatry 1991 Apr;54(4):367-9. doi: 10.1136/jnnp.54.4.367. PMID: 2056325Free PMC Article
Elliott AJ, Simpson EM, Oakhill A, Decock R
Dev Med Child Neurol 1989 Feb;31(1):43-6. doi: 10.1111/j.1469-8749.1989.tb08410.x. PMID: 2920872
Troost BT, Martinez J, Abel LA, Heros RC
Arch Neurol 1980 Jul;37(7):453-6. doi: 10.1001/archneur.1980.00500560083015. PMID: 7387494

Clinical prediction guides

Califano L, Mazzone S, Salafia F, Melillo MG, Manna G
Acta Otorhinolaryngol Ital 2021 Jun;41(3):255-262. doi: 10.14639/0392-100X-N1032. PMID: 34264919Free PMC Article
Zheng Y, Wu S, Yang X
Acta Otolaryngol 2021 May;141(5):433-439. Epub 2021 Feb 9 doi: 10.1080/00016489.2021.1876247. PMID: 33557660
Mustafa MM, Akram H, Oliva-Domínguez M, Kaski D
J Neurol 2020 Nov;267(11):3425-3428. Epub 2020 Jul 15 doi: 10.1007/s00415-020-10071-7. PMID: 32671528Free PMC Article
Pierrot-Deseilligny C
Ann N Y Acad Sci 2009 May;1164:155-65. doi: 10.1111/j.1749-6632.2009.03864.x. PMID: 19645894
Brandt T, Dieterich M
J Vestib Res 1993 Spring;3(1):3-14. PMID: 8275242

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