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

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...

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Autores principales: Nakamura, Takumi, Kawarabayashi, Takeshi, Koh, Kishin, Takiyama, Yoshihisa, Ikeda, Yoshio, Shoji, Mikio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835475/
https://www.ncbi.nlm.nih.gov/pubmed/32893227
http://dx.doi.org/10.2169/internalmedicine.4617-20
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author Nakamura, Takumi
Kawarabayashi, Takeshi
Koh, Kishin
Takiyama, Yoshihisa
Ikeda, Yoshio
Shoji, Mikio
author_facet Nakamura, Takumi
Kawarabayashi, Takeshi
Koh, Kishin
Takiyama, Yoshihisa
Ikeda, Yoshio
Shoji, Mikio
author_sort Nakamura, Takumi
collection PubMed
description 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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spelling pubmed-78354752021-02-04 Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation Nakamura, Takumi Kawarabayashi, Takeshi Koh, Kishin Takiyama, Yoshihisa Ikeda, Yoshio Shoji, Mikio Intern Med Case Report 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. The Japanese Society of Internal Medicine 2020-09-05 2021-01-01 /pmc/articles/PMC7835475/ /pubmed/32893227 http://dx.doi.org/10.2169/internalmedicine.4617-20 Text en Copyright © 2021 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Nakamura, Takumi
Kawarabayashi, Takeshi
Koh, Kishin
Takiyama, Yoshihisa
Ikeda, Yoshio
Shoji, Mikio
Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation
title Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation
title_full Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation
title_fullStr Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation
title_full_unstemmed Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation
title_short Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation
title_sort spastic paraplegia with paget's disease of bone due to a vcp gene mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835475/
https://www.ncbi.nlm.nih.gov/pubmed/32893227
http://dx.doi.org/10.2169/internalmedicine.4617-20
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