Channelpedia

PubMed 14534930


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1



Title: Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6.

Authors: Takao Hashimoto, Osamu Sasaki, Kunihiro Yoshida, Yo-ichi Takei, Shu-ichi Ikeda

Journal, date & volume: Mov. Disord., 2003 Oct , 18, 1201-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/14534930


Abstract
We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. The proband presented with periodic alternating nystagmus (PAN), and her 2 brothers had rebound nystagmus and gaze-evoked nystagmus. They carried the identical mutation (the number of expanded CAG repeat, 24) in the CACNA1A gene. The intrafamilial variability of oculomotor symptoms may be ascribed to factors other than CAG repeat expansion size in SCA6.