Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous <i>FGD4</i> Mutation and Cauda Equina Thickening
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- Aoki Sho
- Department of Neurology, Gunma University Graduate School of Medicine, Japan
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- Nagashima Kazuaki
- Department of Neurology, Gunma University Graduate School of Medicine, Japan
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- Shibata Makoto
- Department of Neurology, Gunma University Graduate School of Medicine, Japan
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- Kasahara Hiroo
- Department of Neurology, Gunma University Graduate School of Medicine, Japan
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- Fujita Yukio
- Department of Neurology, Gunma University Graduate School of Medicine, Japan
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- Hashiguchi Akihiro
- Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
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- Takashima Hiroshi
- Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
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- Ikeda Yoshio
- Department of Neurology, Gunma University Graduate School of Medicine, Japan
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Abstract
<p>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. </p>
Journal
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- Internal Medicine
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Internal Medicine 60 (24), 3975-3981, 2021-12-15
The Japanese Society of Internal Medicine