Referenced in: none

Automatically associated channels: Cav2.1 , Slo1

Title: Spinocerebellar ataxia type 6: MRI of three Japanese patients.

Authors: J I Satoh, H Tokumoto, M Yukitake, M Matsui, Z Matsuyama, H Kawakami, S Nakamura, Y Kuroda

Journal, date & volume: , 1998 Apr , 40, 222-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9592791

Abstract
We describe the MRI findings in three Japanese patients with spinocerebellar ataxia type 6 (SCA6) in which a polymorphic CAG repeat was identified in the gene encoding the alpha 1A voltage-dependent P/Q-type Ca2+ channel subunit (CACNL1A4). All showed slowly progressive cerebellar ataxia and mild pyramidal signs. Neuroradiologically, they had moderate cerebellar atrophy, most prominently in the superior vermis, whereas the brain stem appeared to be spared. No abnormal signal intensity was identified.