Abstract
Benign paroxysmal torticollis of infancy (BPTI) is a rare paroxysmal disorder characterized by recurrent episodes of head tilt and accompanying general symptoms which remit spontaneously. The rare association with gain-of-function CACNA1A mutations, similar to hemiplegic migraine, has been reported. We report here two new BPTI patients from the same family carrying a heterozygous mutation in the CACNA1A gene leading to the change p.Glu533Lys. Functional analysis revealed that this mutation induces a loss of channel function due to impaired gating by voltage and much lower current density. Our data suggest that BPTI, a periodic syndrome commonly considered a migraine precursor, con- stitutes an age-specific manifestation of defective neuronal calcium channel activity.
Highlights
Introduction and backgroundBenign paroxysmal torticollis of infancy (BPTI) is a rare paroxysmal disorder characterized by recurrent episodes of head tilt and variable behavioural and autonomic changes, usually disappearing after age 2 years and often evolving into benign paroxysmal vertigo or common migraine
We performed direct sequencing of the 47 exons and flanking intronic regions of the CACNA1A gene in the nuclear family and a maternal aunt affected with epilepsy
A previous report has shown cosegregation of p.Glu533Lys with familial episodic ataxia type-2 (EA-2)[2]. This is the first report of a childhood periodic syndrome being caused by a loss-of-function CACNA1A mutation
Summary
A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy. M Vila-Pueyo1*, C Sintas[2], M Flotats[3], G Gené[4], X Elorza[4], JM Fernández-Fernández[4], B Cormand[2], A Macaya[1]. From The European Headache and Migraine Trust International Congress London, UK. Introduction and background Benign paroxysmal torticollis of infancy (BPTI) is a rare paroxysmal disorder characterized by recurrent episodes of head tilt and variable behavioural and autonomic changes, usually disappearing after age 2 years and often evolving into benign paroxysmal vertigo or common migraine. A few reports have linked BPTI to mutations in CACNA1A1
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