فهرست نشریات علمی دسترسی آزاد ایران

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. ObjectiveEpisodic 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. ReferencesOuvrier 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):17-21VanDyke 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.