The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
Scarano V., Mancini P., Criscuolo C., De Michele G., Rinaldi C., Tucci T., Tessa A., Santorelli FM., Perretti A., Santoro L., Filla A.
Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.