- A novel mutation in the spastin gene in a family with spastic paraplegiaMitsuya Morita
Cecil B Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA
Neurosci Lett 325:57-61. 2002..Our data are the first to confirm that a mutation in an acceptor site in the spastin gene results in activation of a cryptic acceptor site and a translational frameshift. The clinical phenotype of this pedigree is also discussed...
- [Late-onset sporadic case of SPG4 (1726T>C mutant) accompanied by polyneuropathy with diabetes mellitus]Mami Fukunaga
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
Rinsho Shinkeigaku 47:359-61. 2007..Further study of clinical characteristics associated with the Leu534Pro mutation will be necessary...