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Article

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

Internal medicine (Tokyo, Japan) - 1 Jan 2021

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

Abstract excerpt

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...

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Identifiers

PMID: 32893227
DOI: 10.2169/internalmedicine.4617-20
PMCID: PMC7835475

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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