• Register
  • Login

Iranian Journal of Child Neurology

  • Home
  • About
    • About the Journal
    • Indexing & Abstracting
    • Submissions
    • Editorial Team
    • Privacy Statement
    • Contact
  • Current
  • Archives
  • Announcements
Advanced Search
  1. Home
  2. Archives
  3. Vol. 7 No. 4 (2013): Autumn 2013
  4. Case Report

Vol. 7 No. 4 (2013)

November 2013

Downward Vertical Gaze Palsy As A Prominent Manifestation Of Episodic Ataxia Type 2: A Case Report

  • Reza SHERVIN BADV
  • Ali NIKSIRAT

Iranian Journal of Child Neurology, Vol. 7 No. 4 (2013), 16 November 2013 , Page 58-60
https://doi.org/10.22037/ijcn.v7i4.3998 Published: 2013-04-23

  • View Article
  • Download
  • Cite
  • Statastics
  • Share

Abstract

How to Cite This Article: Shervin Badv R, Niksirat A. Downward Vertical Gaze Palsy As A Prominent Manifestation Of Episodic Ataxia Type 2: A Case Report. Iran J Child Neurol. 2013 Autumn; 7(4):58- 60.

 

Objective

Episodic ataxia type 2 (EA2) is an inherited autosomal dominant disorder characterized by intermittent ataxia, nausea, vomiting, dysarthria, or nystagmus.

We report a case of EA2, which downward gaze palsy exists as a common sign in all her attacks. Responsiveness of EA2 to acetazolamide was observed in this patient.

 

References

  1. Ouvrier R, Aicardi J. Disorders of the peripheral nerves. In: Aicardi J, Bax M, Gillberg C, editors.Diseases of the nervous system in Childhood. 3rd ed. London: Mackeith Press; 2009.
  2. Swaiman KF, Ashwal S, Ferriero DM, Schor NF. Pediatric neurology: principles & practice. 5th ed. London: Elsevier Saunders; 2012.
  3. National Ataxia Foundation. Minneapolis: National Ataxia Foundation; 2007 (cited 2007 Feb). Available from: URL: http://www.ataxia.org.
  4. Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, et al. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. Ann Neurol. 2003;54(6):725-31.
  5. Brunt ER, van Weerden TW. Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 1990;113(5):1361-82.
  6. Jen J. Familial Episodic Ataxias and Related Ion Channel Disorders. Curr Treat Options Neurol 2000;2(5):429-31.
  7. Fenichel M. Clinical Pediatric Neurology: A Signs and Symptoms Approach. 6th ed. Philadelphia: Elsevier Saunders; 2009. P.227-247.
  8. Griggs RC, Moxley RT 3rd, Lafrance RA, McQuillen J. Hereditary paroxysmal ataxia: response to Acetazolamide. Neurology 1978;28(12):1259-64.
  9. Scoggan KA, Friedman JH, Bulman DE. CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid. Can J Neurol Sci 2006;33(1):68-72.
  10. Kim JM, Kim JS, Ki CS, Jeon BS. Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family. J Clin Neurol 2006;2(4):268-71.
  11. Bain PG, O’Brien MD, Keevil SF, Porter DA. Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol 1992;31(2):147-54.
  12. Gancher ST, Nutt JG. Autosomal dominant episodic ataxia: a heterogeneous syndrome. Mov Disord. 1986;1(4):239-53.
  13. Lubbers WJ, Brunt ER, Scheffer H, Litt M, Stulp R, Browne DL, et al. Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide. J Neurol Neurosurg Psychiatry 1995;59(4):400-5.
  14. Shapiro MS, Gomeza J, Hamilton SE, Hille B, Loose MD, Nathanson NM, et al. Identification of subtypes of muscarinic receptors that regulate Ca2+ and K+ channel activity in sympathetic neurons. Life Sci 2001;68(22-23):2481-7.
  15. Baloh RW. Episodic vertigo: Central nervous system causes. Curropin Neurol 2002;15(1):17-21
  16. VanDyke DH, Griggs RC, Murphy MJ, Goldstein MN. Hereditary myokymia and periodic ataxia. J Neurolog Sci 1975;25(1):109-18.
  17. Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology 2004;62(1):17-22.
  18. Singhvi JP, Prabhakar S, Singh P. Episodic ataxia: a case report and review of literature. Neurol India 2000;48(1):78-80.

 

Keywords:
  • Episodic ataxia type 2
  • Downward vertical gaze palsy
  • Acetazolamide
  • Normal brain function
  • PDF Fulltext

How to Cite

SHERVIN BADV, R., & NIKSIRAT, A. (2013). Downward Vertical Gaze Palsy As A Prominent Manifestation Of Episodic Ataxia Type 2: A Case Report. Iranian Journal of Child Neurology, 7(4), 58–60. https://doi.org/10.22037/ijcn.v7i4.3998
  • ACM
  • ACS
  • APA
  • ABNT
  • Chicago
  • Harvard
  • IEEE
  • MLA
  • Turabian
  • Vancouver
  • Endnote/Zotero/Mendeley (RIS)
  • BibTeX
  • Abstract Viewed: 415 times

Download Statastics

  • Linkedin
  • Twitter
  • Facebook
  • Google Plus
  • Telegram

Developed By

Open Journal Systems
  • Home
  • Archives
  • Submissions
  • About the Journal
  • Editorial Team
  • Contact
Powered by OJSPlus