Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation

Luca Pradotto, Monica Mencarelli, Matteo Bigoni, Alessandra Milesi, Anna Di Blasio, Alessandro Mauro

Research output: Contribution to journalArticle

Abstract

Several dominant mutations of CACNA1A gene were associated with at least three different allelic disorders: spino-cerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine-1 (FHM1). It is generally thought that loss-of-function mutations are associated with EA2, gain-of-function missense mutations with FHM1, and abnormal CAG expansions with SCA6. But, overlapping features, atypical symptoms and co-occurrence of distinct phenotypes within the same family were reported. We describe a four generation family showing different phenotypes ranging from EA2 to SCA6 and carrying the p.D302N CACNA1A gene mutation. In our family the phenotypes maintained separate and gender differences corresponding to different phenotypes were observed.

Original languageEnglish
Pages (from-to)81-84
Number of pages4
JournalJournal of the Neurological Sciences
Volume371
DOIs
Publication statusPublished - Dec 15 2016

Keywords

  • Acetazolamide
  • CACNA1A
  • Episodic ataxia
  • Gender differences
  • SCA6

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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