Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening

Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation. CMT4H is characterized by an early onset, slow progression, scoliosis, distal muscle atrophy, and foot deform...

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Autores principales: Aoki, Sho, Nagashima, Kazuaki, Shibata, Makoto, Kasahara, Hiroo, Fujita, Yukio, Hashiguchi, Akihiro, Takashima, Hiroshi, Ikeda, Yoshio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758460/
https://www.ncbi.nlm.nih.gov/pubmed/34148957
http://dx.doi.org/10.2169/internalmedicine.7247-21
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author Aoki, Sho
Nagashima, Kazuaki
Shibata, Makoto
Kasahara, Hiroo
Fujita, Yukio
Hashiguchi, Akihiro
Takashima, Hiroshi
Ikeda, Yoshio
author_facet Aoki, Sho
Nagashima, Kazuaki
Shibata, Makoto
Kasahara, Hiroo
Fujita, Yukio
Hashiguchi, Akihiro
Takashima, Hiroshi
Ikeda, Yoshio
author_sort Aoki, Sho
collection PubMed
description Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation. CMT4H is characterized by an early onset, slow progression, scoliosis, distal muscle atrophy, and foot deformities. We herein present sibling cases of CMT4H with a homozygous mutation in the FGD4 gene. Both patients exhibited cauda equina thickening on magnetic resonance imaging, which had not been reported among the previous CMT4H cases. This is the first report of CMT4H with a homozygous FGD4 c.1730G>A (p.Arg577Gln) mutation showing mild progression and cauda equina thickening.
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spelling pubmed-87584602022-01-26 Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening Aoki, Sho Nagashima, Kazuaki Shibata, Makoto Kasahara, Hiroo Fujita, Yukio Hashiguchi, Akihiro Takashima, Hiroshi Ikeda, Yoshio Intern Med Case Report Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation. CMT4H is characterized by an early onset, slow progression, scoliosis, distal muscle atrophy, and foot deformities. We herein present sibling cases of CMT4H with a homozygous mutation in the FGD4 gene. Both patients exhibited cauda equina thickening on magnetic resonance imaging, which had not been reported among the previous CMT4H cases. This is the first report of CMT4H with a homozygous FGD4 c.1730G>A (p.Arg577Gln) mutation showing mild progression and cauda equina thickening. The Japanese Society of Internal Medicine 2021-06-19 2021-12-15 /pmc/articles/PMC8758460/ /pubmed/34148957 http://dx.doi.org/10.2169/internalmedicine.7247-21 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
Aoki, Sho
Nagashima, Kazuaki
Shibata, Makoto
Kasahara, Hiroo
Fujita, Yukio
Hashiguchi, Akihiro
Takashima, Hiroshi
Ikeda, Yoshio
Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening
title Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening
title_full Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening
title_fullStr Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening
title_full_unstemmed Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening
title_short Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening
title_sort sibling cases of charcot-marie-tooth disease type 4h with a homozygous fgd4 mutation and cauda equina thickening
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758460/
https://www.ncbi.nlm.nih.gov/pubmed/34148957
http://dx.doi.org/10.2169/internalmedicine.7247-21
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