Projects per year
Abstract
Objectives
Charcot-Marie-Tooth disease (CMT) represents the most prevalent form of inherited neuropathy. Monitoring its progression
and assessing the severity of the condition requires the identification of potential molecular markers. Potential biomarkers
suggested to access nerve damage are neurofilament light chain (NfL) and glial fibrillary acid protein (GFAP). Our primary
goal is to determine whether these biomarker levels are related to the severity of the disease.
Materials and Methods
Initially, 44 patients with CMT and 44 controls participated in this study. Disease severity was assessed through clinical
evaluations using the CMT Neuropathy Score version 2 (CMTNSv2). NfL and GFAP were measured using a
single-molecule array.
Funding
This research has been developed with funding from the Latvian Science Council, Project Discovering biomarkers of
disease progression and variability in Charcot-Marie-Tooth neuropathy, No lzp-2021/1-0327.
Results
The group of CMT patients was stratified into subgroups, namely demyelinating CMT and axonal CMT, based on the
findings of nerve conduction studies. There were no significant difference in sex (χ2 = 0.0455, p = 0.831) or age (p = 0.95)
between the CMT and control groups. In the group of patients with CMT, the concentrations of NfL, and GFAP were
significantly higher than in the control group (p<0.05). NfL and GFAP levels were correlated with the CMTNSv2 score
(rs=0.46, p=0.002; rs=0.31, p=0.04).
Conclusions
Our study has provided confirmation that plasma concentrations of NfL and GFAP are significantly elevated in patients with
CMT compared to controls. Furthermore, NfL and GFAP levels were correlated with the clinical severity of CMT. These
findings suggest that NfL and GFAP could be used as reliable disease indicators in future studies.
Charcot-Marie-Tooth disease (CMT) represents the most prevalent form of inherited neuropathy. Monitoring its progression
and assessing the severity of the condition requires the identification of potential molecular markers. Potential biomarkers
suggested to access nerve damage are neurofilament light chain (NfL) and glial fibrillary acid protein (GFAP). Our primary
goal is to determine whether these biomarker levels are related to the severity of the disease.
Materials and Methods
Initially, 44 patients with CMT and 44 controls participated in this study. Disease severity was assessed through clinical
evaluations using the CMT Neuropathy Score version 2 (CMTNSv2). NfL and GFAP were measured using a
single-molecule array.
Funding
This research has been developed with funding from the Latvian Science Council, Project Discovering biomarkers of
disease progression and variability in Charcot-Marie-Tooth neuropathy, No lzp-2021/1-0327.
Results
The group of CMT patients was stratified into subgroups, namely demyelinating CMT and axonal CMT, based on the
findings of nerve conduction studies. There were no significant difference in sex (χ2 = 0.0455, p = 0.831) or age (p = 0.95)
between the CMT and control groups. In the group of patients with CMT, the concentrations of NfL, and GFAP were
significantly higher than in the control group (p<0.05). NfL and GFAP levels were correlated with the CMTNSv2 score
(rs=0.46, p=0.002; rs=0.31, p=0.04).
Conclusions
Our study has provided confirmation that plasma concentrations of NfL and GFAP are significantly elevated in patients with
CMT compared to controls. Furthermore, NfL and GFAP levels were correlated with the clinical severity of CMT. These
findings suggest that NfL and GFAP could be used as reliable disease indicators in future studies.
| Original language | English |
|---|---|
| Pages | 8 -8 |
| Number of pages | 1 |
| Publication status | Published - 2024 |
| Externally published | Yes |
| Event | 17th Conference of Baltic Child Neurology Association - Jurmala , Latvia Duration: 23 May 2024 → 25 May 2024 Conference number: 17 https://www.bcna2024.lv/ |
Conference
| Conference | 17th Conference of Baltic Child Neurology Association |
|---|---|
| Country/Territory | Latvia |
| City | Jurmala |
| Period | 23/05/24 → 25/05/24 |
| Internet address |
Keywords*
- neurology
- Charcot Marie Tooth
- biomarker
Field of Science*
- 3.2 Clinical medicine
Publication Type*
- 3.4. Other publications in conference proceedings (including local)
Fingerprint
Dive into the research topics of 'EVALUATING AXONAL DAMAGE PLASMA BIOMARKERS NFL AND GFAP, AS INDICATORS OF DISEASE SEVERITY IN CHARCOT-MARIE-TOOTH PATIENTS'. Together they form a unique fingerprint.Projects
- 1 Finished
-
Discovering biomarkers of disease progression and variability in Charcot-Marie-Tooth neuropathy
Ķēniņa, V. (Project leader), Gailīte, L. (Leading expert), Rots, D. (Expert), Vīksne, K. (Expert), Šetlere, S. (Expert (PhD student)), Isakovs, A. (Expert (PhD student)), Bārdiņa, L. (Expert (PhD student)) & Glāzere, I. (Expert (PhD student))
3/01/22 → 30/12/24
Project: Fundamental and Applied Research Programme