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

• Nakamura Takumi

  Department of Neurology, Gunma University Graduate School of Medicine, Japan

• Kawarabayashi Takeshi

  Dementia Center, Geriatrics Research Institute Hospital, Japan

• Koh Kishin

  Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan

• Takiyama Yoshihisa

  Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan

• Ikeda Yoshio

  Department of Neurology, Gunma University Graduate School of Medicine, Japan

• Shoji Mikio

  Dementia Center, Geriatrics Research Institute Hospital, Japan

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.

Journal

• Internal Medicine

  Internal Medicine 60 (1), 141-144, 2021-01-01

  The Japanese Society of Internal Medicine

Keywords

• <i>VCP</i> mutation
• hereditary spastic paraplegia
• Paget's disease of bone
• rare mutation

Details

• CRID: 1391975831225403776
• NII Article ID: 130007965378
• DOI: 10.2169/internalmedicine.4617-20
• ISSN: 13497235
• ISSN: 09182918
• PubMed: 32893227
• Web Site: https://www.jstage.jst.go.jp/article/internalmedicine/60/1/60_4617-20/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2021267271
• Text Lang: en
• Data Source:
  • JaLC
  • Crossref
  • PubMed
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed