title: Phenotypic variability of episodic ataxia type 2 mutations: a family study.
abstract: BACKGROUND
  Episodic ataxia type 2 (EA2) is characterized by paroxysmal bouts of ataxia and progressive cerebellar dysfunction. Other manifestations may also be associated, such as migraine attacks with or without aura, absence epilepsy and mental retardation.
  
  
  METHODS
  To describe the intrafamilial variability of clinical manifestations of 3 patients harboring a novel CACNA1A point mutation in exon 7 (nucleotide insertion c.1063dupG) typical of EA2 mutation.
  
  
  RESULTS
  All 3 patients presented paroxysmal bouts of ataxia, but age of onset, associated symptoms and symptoms at clinical onset were clearly distinct with hemiplegic migraine attacks in the father, absence epilepsy in one child and mental retardation in the other child.
  
  
  CONCLUSIONS
  Typical manifestations of EA2 may be associated and temporally preceded by rare manifestations such as hemiplegic migraine attacks, epilepsy and mental retardation. Moreover, patients sharing a given CACNA1A mutation may present very different phenotypes even within the same family.
authors.affiliation: Service de Neurologie C, Hôpital Neurologique P. Wertheimer, Bron, France. julien.jung@chu-lyon.fr
authors.forename: Julien
authors.initials: J
authors.lastname: Jung
authors.forename: Hervé
authors.initials: H
authors.lastname: Testard
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Tournier-Lasserve
authors.forename: Florence
authors.initials: F
authors.lastname: Riant
authors.forename: Anne-Evelyne
authors.initials: AE
authors.lastname: Vallet
authors.forename: Stéphane
authors.initials: S
authors.lastname: Berroir
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Broussolle
mesh_terms: D000328:Adult; D001259:Ataxia / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005192:Family Health; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type