PLEKHG4 MUTATIONS ARE EXCLUDED AS A CAUSE OF SCA4

PLEKHG4 gene mutations have been excluded as the cause of spinocerebellar ataxia type 4 (SCA4). Indeed, Amino et al. (2007) redefined the SCA4 disease locus to a 900-kb region between a polymorphism centromeric to the PLEKHG4 gene and the -16C-T transition of the 5’UTR of the gene, originally thought to be disease-causing.

For references see OMIM 609526 and 600223.