downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report

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 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. swaiman kf, ashwal s, ferriero dm, schor nf. pediatric neurology: principles & practice. 5th ed. london: elsevier saunders; 2012. national ataxia foundation. minneapolis: national ataxia foundation; 2007 (cited 2007 feb). available from: url: http://www.ataxia.org. 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. brunt er, van weerden tw. familial paroxysmal kinesigenic ataxia and continuous myokymia. brain 1990;113(5):1361-82. jen j. familial episodic ataxias and related ion channel disorders. curr treat options neurol 2000;2(5):429-31. fenichel m. clinical pediatric neurology: a signs and symptoms approach. 6th ed. philadelphia: elsevier saunders; 2009. p.227-247. griggs rc, moxley rt 3rd, lafrance ra, mcquillen j. hereditary paroxysmal ataxia: response to acetazolamide. neurology 1978;28(12):1259-64. 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. 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. 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. gancher st, nutt jg. autosomal dominant episodic ataxia: a heterogeneous syndrome. mov disord. 1986;1(4):239-53. 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. 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. baloh rw. episodic vertigo: central nervous system causes. curropin neurol 2002;15(1):17-21 vandyke dh, griggs rc, murphy mj, goldstein mn. hereditary myokymia and periodic ataxia. j neurolog sci 1975;25(1):109-18. jen j, kim gw, baloh rw. clinical spectrum of episodic ataxia type 2. neurology 2004;62(1):17-22. singhvi jp, prabhakar s, singh p. episodic ataxia: a case report and review of literature. neurol india 2000;48(1):78-80.