| タイトル |
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en
X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter
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| 作成者 |
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| アクセス権 |
open access |
| 主題 |
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Other
en
gap junction protein β1
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Other
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connexin 32
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Other
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hereditary demyelinating neuropathy
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Other
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magnetic resonance imaging
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Other
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X-linked Charcot-Marie-Tooth disease
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NDC
493
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| 内容注記 |
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Abstract
en
Charcot-Marie-Tooth neuropathy (CMT) is an inherited degenerative disorder of the peripheral nervous system that results in slowly progressive distal muscle weakness, atrophy and loss of proprioception in the affected areas. X-linked CMT (CMTX) has been localized to the pericentric region of the X chromosome. CMTX neuropathy is usually associated with mutations in exon 2 of the gap junction protein β1 (GJB1) gene. GJB1 is a gap junction protein expressed in various cells including oligodendrocytes, astrocytes and myelinating schwann cells. Here, we report a female case of CMTX with a GJB1 mutation. The patient was severely clinically affected and exhibited both the features of demyelination and axonopathy. This is the first female patient with CMTX who showed permanent atypical scattered lesions in cerebral white matter of the brain on T2-weighted magnetic resonance images (MRI), which is very rare. The existence of a female patient with severe clinical symptoms may show that gain of function mechanism also leads to the disorders seen in these patients.
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| 出版者 |
ja
社団法人 日本内科学会
en
Japanese Society of Internal Medicine
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| 日付 |
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| 言語 |
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| 資源タイプ |
journal article |
| 出版タイプ |
AM |
| 資源識別子 |
HDL
http://hdl.handle.net/2115/25175
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| 関連 |
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isVersionOf
DOI
https://doi.org/10.2169/internalmedicine.46.0047
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PMID
17603245
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| 収録誌情報 |
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PISSN
0918-2918
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EISSN
1349-7235
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en
Internal Medicine
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巻46
号13
開始ページ1023
終了ページ1027
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| ファイル |
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| コンテンツ更新日時 |
2023-07-26 |
