No mutation in the entire coding region of the alpha-synuclein gene in pathologically confirmed cases of multiple system atrophy

To determine whether mutations in the coding region of the alpha-synuclein gene are relevant in cases of multiple system atrophy (MSA), detailed nucle otide sequence analysis of the alpha-synuclein gene was performed using tot al RNA obtained from autopsied brain specimens of 11 pathologically confirm ed cases of MSA. The brain specimens used in this study contained both gray and white matter, which were dissected from the frontal, temporal or occip ital lobe. No nucleotide alterations were found in the entire coding region of the alpha-synuclein gene in any of the cases. While mutations In the re gulatory or intronic regions of the gene were not ruled out, our results su ggest that mutations in the coding region of the alpha-synuclein gene are u nlikely to contribute to the pathogenesis of MSA. (C) 1999 Elsevier Science ireland ltd. All rights reserved.