Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13

L. Calandriello, L. Veneziano, A. Francia, G. Sabbadini, C. Colonnese, E. Mantuano, C. Jodice, F. Trettel, P. Viviani, M. Manfredi, M. Frontali

Research output: Contribution to journalArticle

Abstract

Episodic ataxia type 2 is an autosomal dominant disorder with attacks of vertigo and ataxia which respond to acetazolamide treatment. The gene, distinct from the KCNA1 responsible for episodic ataxia type 1, has been mapped on chromosome 19p13 in a 11-12 cM region. A large Italian kindred affected with acetazolamide-responsive episodic ataxia is reported, with onset in adulthood, a strong vestibular component during attacks and a high frequency of cerebellar vermis degeneration. The genetic-analysis (i) showed strong linkage between the disease and the 19p13 microsatellite markers in a region which widely overlaps that previously reported and (ii) set a new distal boundary of the gene-containing region. Combining present and previous mapping data, the gene of episodic etaxia type 2 is most probably located in an interval ~ 1.5 Mb between markers D19S221 and D19S226.

Original languageEnglish
Pages (from-to)805-812
Number of pages8
JournalBrain
Volume120
Issue number5
DOIs
Publication statusPublished - May 1997

Keywords

  • Autosomal dominant cerebellar ataxias
  • Cerebellar vermis atrophy
  • Chromosome 19p
  • Episodic ataxia type 2
  • Vestibulocerebellar paroxysmal ataxia

ASJC Scopus subject areas

  • Neuroscience(all)

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    Calandriello, L., Veneziano, L., Francia, A., Sabbadini, G., Colonnese, C., Mantuano, E., Jodice, C., Trettel, F., Viviani, P., Manfredi, M., & Frontali, M. (1997). Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. Brain, 120(5), 805-812. https://doi.org/10.1093/brain/120.5.805