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Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder clinically characterized by slowly progressing spastic paraparesis. We herein report a 50-year-old Japanese woman who presented with slowly progressing spastic paraplegia and a history of Paget's disease of bone (PDB). Genetic testing revealed a mutation of the Valosin-containing protein (VCP) gene (p.Arg155Cys; c.436C&gt;T). This mutation has not been reported to cause HSP with PDB.

Spastic Paraplegia with Paget's Disease of Bone due to a <i>VCP</i> Gene Mutation