Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

doi:10.1016/j.ejpn.2016.11.005

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Article

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2017

Travaglini Lorena, Nardella Marta, Bellacchio Emanuele, D'Amico Adele, Capuano Alessandro, Frusciante Roberto, Di Capua Matteo, Cusmai Raffaella, Barresi Sabina, Morlino Silvia, Fernández-Fernández José M, Trivisano Marina, Specchio Nicola, Valeriani Massimiliano, Vigevano Federico, Bertini Enrico, Zanni Ginevra

Abstract excerpt

BACKGROUND: Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, localized at presynaptic terminals of brain and cerebellar neurons, result in clinically variable neurological disorders including hemiplegic migraine (HM) and episodic or progressive adult-onset ataxia (EA2, SCA6). Most recently, CACNA1A mutations have been identified in patients with nonprogressive...

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PMID: 28007337
DOI: 10.1016/j.ejpn.2016.11.005

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