SUMMARY:
Therefore, it seemed that the EGR2 mutations could cause not only the known demyelinating type and axonal type but also mixed-type CMT. Our findings expanded the phenotypic heterogeneities of EGR2-associated neuropathy.
TITLE:
EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study
DESCRIPTION:
CONCLUSION: Therefore, it seemed that the EGR2 mutations could cause not only the known demyelinating type and axonal type but also mixed-type CMT. Our findings expanded the phenotypic heterogeneities of EGR2-associated neuropathy.
CONTENT:
Clin Neuropathol. 2022 Jun 30. doi: 10.5414/NP301460. Online ahead of print.
ABSTRACT
BACKGROUND AND AIMS: The early growth response 2 gene (EGR2) mutations are associated with a group of hereditary neuropathy, including axonal neuropathy and hypomyelinating neuropathy or Charcot-Marie-Tooth disease (CMT) type 1D. We aim to perform an electrodiagnostic, nerve imaging, and histological study of EGR2-associated neuropathy.
MATERIALS AND METHODS: We performed a retrospective analysis of two patients with EGR2-related neurology at our hospital. The neuropathy was confirmed by the nerve conduction study. Nerve imaging and sural biopsies were performed in two patients.
RESULTS: Two unrelated boys exhibited early-onset length-dependent neuropathy. Next generation sequencing identified EGR2 gene with previously described E412K mutation in the third zine finger domain in patient 1 and a previously undescribed variant D355N mutation in the first zinc finger domain in patient 2. The magnetic resonance imaging of the lumbosacral plexus showed no abnormalities in patient 1 and thickened lumbosacral plexuses in patient 2. Electrophysiology and nerve biopsies showed a prominent axonal neuropathy, accompanied with demyelinating involvement.
CONCLUSION: Therefore, it seemed that the EGR2 mutations could cause not only the known demyelinating type and axonal type but also mixed-type CMT. Our findings expanded the phenotypic heterogeneities of EGR2-associated neuropathy.
PMID:35770518 | DOI:10.5414/NP301460
SOURCE:
Clinical neuropathology
TAGS:
EGR2
CATEGORY:
Research
SUBCATEGORY:
n/a
DATE – PUBLISHED:
2022-06-30T08:04:57Z
DATE – DOI: 2022-06-30T08:04:57Z
DATE – PUBMED: 2022 Jun 30
DATE OUTPUT MATCHED: True
DATE – ADDED:
Thu, 30 Jun 2022 06:00:00 -0400
DATE – RETRIEVED:
06/30/22 07:02AM
2022-06-30T07:02:09-04:00
FEATURED IMAGE:
Media Uploaded (image/png)
IDENTIFIER:
pmid:35770518,doi:10.5414/NP301460
PUBMED ID:
pubmed:35770518
DOI:
10.5414/NP301460
LINK – PUBMED:
https://pubmed.ncbi.nlm.nih.gov/35770518/
LINK – DOI:
https://doi.org/10.5414/NP301460
LINK – PUBLISHER:
https://www.dustri.com/index.php?id=8&artId=189563&doi=10.5414/NP301460
REFERENCES:
CMT Treatment Report, Urgent Research, 2022-06-30T07:02:09-04:00, https://www.cmttreatmentreport.com.