The coexistence of multiple sclerosis and hereditary spastic paraparesis in a patient

Abstract

Multiple sclerosis (MS) is a chronic disease characterized by multiple areas of central nervous system inflammation, demyelination and axonal loss. Hereditary spastic paraparesis (HSP) is characterized clinically by progressive spasticity and weakness of the lower limbs and pathologically by retrograd axonal degeneration of the corticospinal tracts and posterior columns. We identified a patient with clinical history and investigation findings consistent with the concurrence of both MS and HSP. Laboratory and radiological investigations, cognitive tests were performed. Genetic confirmation for spastin gene mutation has been completed. If this coexistence is not coincidence the mutation in the spastin gene may be a strong susceptibility locus for MS. © N. Kohno et al., 2013 licensee PAGEPress, Italy.