PMID- 35770518
OWN - NLM
STAT- MEDLINE
DCOM- 20221207
LR  - 20221207
IS  - 0722-5091 (Print)
IS  - 0722-5091 (Linking)
VI  - 41
IP  - 6
DP  - 2022 Nov-Dec
TI  - EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An 
      electrodiagnostic, nerve imaging, and histological study.
PG  - 245-252
LID - 10.5414/NP301460 [doi]
AB  - 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.
FAU - Chu, Xu J
AU  - Chu XJ
FAU - Du, Kang
AU  - Du K
FAU - Meng, Ling C
AU  - Meng LC
FAU - Xie, Zhi Y
AU  - Xie ZY
FAU - Zhu, Ying
AU  - Zhu Y
FAU - Zhang, Wei
AU  - Zhang W
FAU - Wang, Zhao X
AU  - Wang ZX
FAU - Yuan, Yun
AU  - Yuan Y
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Clin Neuropathol
JT  - Clinical neuropathology
JID - 8214420
RN  - 0 (EGR2 protein, human)
RN  - 0 (Early Growth Response Protein 2)
SB  - IM
MH  - Male
MH  - Humans
MH  - *Charcot-Marie-Tooth Disease/diagnosis/genetics/pathology
MH  - Retrospective Studies
MH  - Phenotype
MH  - Axons/pathology
MH  - Mutation
MH  - Sural Nerve/pathology
MH  - Early Growth Response Protein 2/genetics
EDAT- 2022/07/01 06:00
MHDA- 2023/02/25 06:00
CRDT- 2022/06/30 04:22
PHST- 2022/11/02 00:00 [accepted]
PHST- 2022/07/01 06:00 [pubmed]
PHST- 2023/02/25 06:00 [medline]
PHST- 2022/06/30 04:22 [entrez]
AID - 189563 [pii]
AID - 10.5414/NP301460 [doi]
PST - ppublish
SO  - Clin Neuropathol. 2022 Nov-Dec;41(6):245-252. doi: 10.5414/NP301460.