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 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.
MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London Queen Square, London WC1N 3BG UK.
Sanjeev
S
Rajakulendran
Stephanie
S
Schorge
Dimitri M
DM
Kullmann
Michael G
MG
Hanna