Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation

Takumi Nakamura; Takeshi Kawarabayashi; Kishin Koh; Yoshihisa Takiyama; Yoshio Ikeda; Mikio Shoji

doi:10.2169/internalmedicine.4617-20

CASE REPORTS

Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation

Takumi Nakamura, Takeshi Kawarabayashi, Kishin Koh, Yoshihisa Takiyama, Yoshio Ikeda, Mikio Shoji

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Keywords: VCP mutation, hereditary spastic paraplegia, Paget's disease of bone, rare mutation

JOURNAL OPEN ACCESS

2021 Volume 60 Issue 1 Pages 141-144

DOI https://doi.org/10.2169/internalmedicine.4617-20

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Abstract

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>T). This mutation has not been reported to cause HSP with PDB.

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