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

Abstract

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.

• Authors: Sho Aoki, Kazuaki Nagashima, Makoto Shibata, Hiroo Kasahara, Yukio Fujita, Akihiro Hashiguchi, Hiroshi Takashima, Yoshio Ikeda
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 60 Issue 24 Pg. 3975-3981 (Dec 15 2021) ISSN: 1349-7235 [Electronic] Japan
• PMID: 34148957 (Publication Type: Case Reports, Journal Article)

Chemical References

• FGD4 protein, human
• Microfilament Proteins

Topics

• Cauda Equina
• Charcot-Marie-Tooth Disease (diagnostic imaging, genetics)
• Humans
• Microfilament Proteins (genetics)
• Mutation
• Pedigree
• Phenotype
• Siblings