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- Takumi Nakamura, Takeshi Kawarabayashi, Kishin Koh, Yoshihisa Takiyama, Yoshio Ikeda, and Mikio Shoji.
- Department of Neurology, Gunma University Graduate School of Medicine, Japan.
- Intern. Med. 2021 Jan 1; 60 (1): 141-144.
AbstractHereditary 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>T). This mutation has not been reported to cause HSP with PDB.
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