| Title |
-
en
X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter
|
| Creator |
|
| Accessrights |
open access |
| Subject |
-
Other
en
gap junction protein β1
-
Other
en
connexin 32
-
Other
en
hereditary demyelinating neuropathy
-
Other
en
magnetic resonance imaging
-
Other
en
X-linked Charcot-Marie-Tooth disease
-
NDC
493
|
| Description |
-
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.
|
| Publisher |
ja
社団法人 日本内科学会
en
Japanese Society of Internal Medicine
|
| Date |
|
| Language |
|
| Resource Type |
journal article |
| Version Type |
AM |
| Identifier |
HDL
http://hdl.handle.net/2115/25175
|
| Relation |
-
isVersionOf
DOI
https://doi.org/10.2169/internalmedicine.46.0047
-
PMID
17603245
|
| Journal |
-
-
PISSN
0918-2918
-
EISSN
1349-7235
-
en
Internal Medicine
-
Volume Number46
Issue Number13
Page Start1023
Page End1027
|
| File |
|
| Oaidate |
2023-07-26 |
