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논문KCI 등재

CACNA1A 돌연변이에 의한 제2형 발작성실조증

Episodic Ataxia Type 2 with Downbeating Nystagmus Caused by Mutation in the CACNA1A: A Case Report

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참고문헌

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초록

Abstract

Episodic ataxia type 2 (EA 2) is a rare disorder characterized by intermittent episodes of ataxia with interictal nystagmus. The authors report a patient with EA 2, who presented with recurrent episodes of vertigo, gait ataxia and interictal downbeat nystagmus, which had developed about 16 years before. The chromosomal analysis revealed a translocation between chromosome 7 and chromosome 19 (t(7;19)). The break point in chromosome 19 was the P13 locus of the CACNA1A gene.

참고문헌 (9)

  1. "Familial Periodic Vertigo and Ataxia.", pp.77~82 (1998)
  2. "Acetazolamide-responsive Hereditary Paroxysmal Ataxia" (1998)
  3. "Spinocerebellar ataxia type 6 in two Korean families", 18, pp.298~303 (2000)
  4. "Clinical spectrum of episodic ataxia tape 2", 62, pp.17~22 (2004)
  5. "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ chammel gene CACNL1A4", 87, pp.543~552 (1996)
  6. "A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia", 53, pp.34~37 (1999)
  7. "A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia", 53, pp.38~43 (1999)
  8. "High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2", 52, pp.1816~1821 (1999)
  9. "Familial periodic cerebellar ataxia:a problem of cerebellar intracellular pH homeostasis", 31, pp.147~154 (1992)

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