Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias

Mutations in the CACNA1A gene are associated with episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). CACNA1A encodes the α-subunit of the P/Q-type calcium channel or Ca(V)2.1, which is highly enriched in the cerebellum. It is one of the main channels linked to synaptic transmissi...

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Detalles Bibliográficos
Autores principales: Rajakulendran, Sanjeev, Schorge, Stephanie, Kullmann, Dimitri M, Hanna, Michael G
Formato: Texto
Lenguaje:English
Publicado: Biology Reports 2010
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948357/
https://www.ncbi.nlm.nih.gov/pubmed/20948794
http://dx.doi.org/10.3410/B2-4
Descripción
Sumario:Mutations in the CACNA1A gene are associated with episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). CACNA1A encodes the α-subunit of the P/Q-type calcium channel or Ca(V)2.1, which is highly enriched in the cerebellum. It is one of the main channels linked to synaptic transmission throughout the human central nervous system. Here, we compare recent advances in the understanding of the genetic changes that underlie EA2 and SCA6 and what these new findings suggest about the mechanism of the disease.

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