MRI

SUMMARY:
Our MRI parameters obtained through semiquantitative analyses of muscles significantly correlated with clinical parameters in CMT1A patients, suggesting their potential applicability as imaging markers for clinical severity.

TITLE:
Magnetic resonance imaging-based lower limb muscle evaluation in Charcot-Marie-Tooth disease type 1A patients and its correlation with clinical data

DESCRIPTION:
We aimed to derive comprehensive MRI parameters that reflect intramuscular fat infiltration severity for designated lower extremity levels, based on semiquantitative analyses in Charcot-Marie-Tooth disease type 1A (CMT1A) patients. We reviewed lower extremity MRIs of 116 CMT1A patients. Intramuscular fat infiltration grading using the Mercuri scale was performed for the non-dominant lower extremity at three levels (proximal, mid, and distal) for the thigh and at two levels (proximal and distal)…

CONTENT:
Sci Rep. 2022 Oct 5;12(1):16622. doi: 10.1038/s41598-022-21112-8.

ABSTRACT

We aimed to derive comprehensive MRI parameters that reflect intramuscular fat infiltration severity for designated lower extremity levels, based on semiquantitative analyses in Charcot-Marie-Tooth disease type 1A (CMT1A) patients. We reviewed lower extremity MRIs of 116 CMT1A patients. Intramuscular fat infiltration grading using the Mercuri scale was performed for the non-dominant lower extremity at three levels (proximal, mid, and distal) for the thigh and at two levels (proximal and distal) for the lower leg. Based on MRI results, the following parameters were calculated for each level and for entire muscles: fat infiltration proportion (FIP), significant fat infiltration proportion (SigFIP), and severe fat infiltration proportion (SevFIP). The relationships between the MRI parameters and clinical data were evaluated using Spearman’s correlation analysis. FIP, SigFIP, and SevFIP measured for entire muscles significantly correlated with Charcot-Marie-Tooth Neuropathy Score (p < 0.001), functional disability scale (p < 0.001), 10-m walk test time (p = 0.0003, 0.0010, and 0.0011), and disease duration (p < 0.001). Similar correlations were demonstrated for FIP, SigFIP, and SevFIP acquired from the lower leg. Our MRI parameters obtained through semiquantitative analyses of muscles significantly correlated with clinical parameters in CMT1A patients, suggesting their potential applicability as imaging markers for clinical severity. PMID:36198750 | DOI:10.1038/s41598-022-21112-8 SOURCE: Scientific reports TAGS: MRI CATEGORY: Research SUBCATEGORY: n/a DATE - PUBLISHED: 2022-10-05T12:06:05Z DATE - DOI: 2022-10-05T12:06:05Z DATE - PUBMED: 2022 Oct 5 DATE OUTPUT MATCHED: True DATE - ADDED: Wed, 05 Oct 2022 06:00:00 -0400 DATE - RETRIEVED: 10/06/22 01:00AM 2022-10-06T01:00:37-04:00 FEATURED IMAGE: Media Uploaded (image/png) IDENTIFIER: pmid:36198750,doi:10.1038/s41598-022-21112-8 PUBMED ID: pubmed:36198750 DOI: 10.1038/s41598-022-21112-8 LINK - PUBMED: https://pubmed.ncbi.nlm.nih.gov/36198750/ LINK - DOI: https://doi.org/10.1038/s41598-022-21112-8 LINK - PUBLISHER: https://www.nature.com/articles/s41598-022-21112-8 REFERENCES: CMT Treatment Report, Urgent Research, 2022-10-06T01:00:37-04:00, https://www.cmttreatmentreport.com.

SUMMARY:
MRI findings will be helpful for genotype-phenotype correlation and will widen understanding about the clinical spectrum of CMT1C.

TITLE:
Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation

DESCRIPTION:
CONCLUSIONS: We found a conduction block in Korean CMT1C patients with p.G112S mutation and first described the characteristic MRI findings of the lower extremities in patients with LITAF mutation. These findings will be helpful for genotype-phenotype correlation and will widen understanding about the clinical spectrum of CMT1C.

CONTENT:
Genes Genomics. 2022 May 24. doi: 10.1007/s13258-022-01253-w. Online ahead of print.

ABSTRACT

BACKGROUND: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare subtype associated with LITAF gene mutations. Until now, only a few studies have reported the clinical features of CMT1C.

OBJECTIVE: This study was performed to find CMT1C patients with mutation of LITAF in a Korean CMT cohort and to characterize their clinical features.

METHODS: In total, 1,143 unrelated Korean families with CMT were enrolled in a cohort. We performed whole exome sequencing to identify LITAF mutations, and examined clinical phenotypes including electrophysiological and MRI features for the identified CMT1C patients.

RESULTS: We identified 10 CMT1C patients from three unrelated families with p.G112S mutation in LITAF. The frequency of CMT1C among CMT1 patients was 0.59%, which is similar to reports from Western populations. CMT1C patients showed milder symptoms than CMT1A patients. The mean CMT neuropathy score version 2 was 7.7, and the mean functional disability scale was 1.0. Electrophysiological findings showed a conduction block in 22% of affected individuals. Lower extremity MRIs showed that the superficial posterior and anterolateral compartments of the calf were predominantly affected.

CONCLUSIONS: We found a conduction block in Korean CMT1C patients with p.G112S mutation and first described the characteristic MRI findings of the lower extremities in patients with LITAF mutation. These findings will be helpful for genotype-phenotype correlation and will widen understanding about the clinical spectrum of CMT1C.

PMID:35608774 | DOI:10.1007/s13258-022-01253-w

SOURCE:
Genes & genomics

TAGS:
MRI

CATEGORY:
Research

SUBCATEGORY:
n/a

DATE – PUBLISHED:
2022-05-24T09:22:10Z

DATE – DOI: 2022-05-24T09:22:10Z
DATE – PUBMED: 2022 May 24
DATE OUTPUT MATCHED: True

DATE – ADDED:
Tue, 24 May 2022 06:00:00 -0400

DATE – RETRIEVED:
05/24/22 01:05PM
2022-05-24T13:05:05-04:00

FEATURED IMAGE:
Media Uploaded (image/png)

IDENTIFIER:
pmid:35608774,doi:10.1007/s13258-022-01253-w

PUBMED ID:
pubmed:35608774

DOI:
10.1007/s13258-022-01253-w

LINK – PUBMED:
https://pubmed.ncbi.nlm.nih.gov/35608774/

LINK – DOI:
https://doi.org/10.1007/s13258-022-01253-w

LINK – PUBLISHER:
https://link.springer.com/10.1007/s13258-022-01253-w

REFERENCES:
CMT Treatment Report, Urgent Research, 2022-05-24T13:05:05-04:00, https://www.cmttreatmentreport.com.