Phenotypic variability of episodic ataxia type 2 mutations: a family study

European Neurology
Julien JungEmmanuel Broussolle

Abstract

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. 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. 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. 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.

Citations

Jun 9, 2011·Developmental Medicine and Child Neurology·Peter Baxter
Dec 4, 2014·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·S KinderM Smitka
Sep 4, 2012·Cephalalgia : an International Journal of Headache·Delphine MagisJean Schoenen
Aug 1, 2018·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·E IndelicatoS Boesch
May 23, 2019·Developmental Medicine and Child Neurology·Veronique HumbertclaudeUNKNOWN Episodic Syndrome Consortium
Feb 6, 2021·Journal of Neurology·Elisabetta IndelicatoSylvia Boesch
May 14, 2021·Journal of Neurology·Lorenzo VerrielloGian Luigi Gigli
Jun 9, 2021·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Marie Le RouxPatrick Van Bogaert
Jun 3, 2021·Human Molecular Genetics·Pauline BohneMelanie D Mark

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