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A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy.

Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. Laboratori de Fisiologia Molecular i Canalopaties, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain. Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain. Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Electronic address: amacaya@vhebron.net.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2014;(3):430-3
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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, constitutes an age-specific manifestation of defective neuronal calcium channel activity.

Methodological quality

Publication Type : Case Reports

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MeSH terms : Calcium Channels ; Mutation