AUTHOR=Sun Xingwen , Liu Xiaoxuan , Zhao Qiang , Zhang Lihua , Yuan Huishu 

TITLE=Quantified fat fraction as biomarker assessing disease severity in rare Charcot–Marie–Tooth subtypes

JOURNAL=Frontiers in Neurology

VOLUME=14

YEAR=2024

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1334976

DOI=10.3389/fneur.2023.1334976

ISSN=1664-2295

ABSTRACT=<sec id="sec1"><title>Objective</title><p>Charcot–Marie–Tooth (CMT) disease is the most common inherited neuromuscular disorder. Multi-echo Dixon MRI technique is a highly sensitive method for quantifying muscle fatty infiltration, which may provide excellent value for the assessment of CMT. Due to the rareness of the disease, its use in CMT disease has been rarely evaluated, especially in subtypes.</p></sec><sec id="sec2"><title>Methods</title><p>Thirty-four CMT1 patients, 25 CMT2 patients, and 10 healthy controls were recruited. All of the recruited CMT1 patients are CMT1A with PMP22 duplication. Among CMT2 patients, 7 patients are CMT2A with MFN2 mutation, and 7 patients have SORD mutations. Multi-echo Dixon MRI imaging was performed. The fat fractions (FFs) of 5 muscle compartments of the leg were measured at proximal, middle, and distal levels by two specialized musculoskeletal radiologists. Comparisons between CMT1, CMT2, and genetically defined subtypes were conducted.</p></sec><sec id="sec3"><title>Results</title><p>A proximal-distal gradient (27.6 ± 15.9, 29.9 ± 19.7, and 40.5 ± 21.4, <italic>p</italic> = 0.015) with a peroneal predominance (<italic>p</italic> = 0.001) in fat distribution was observed in CMT1. Significant differences in the soleus muscle FFs at proximal (19.1 ± 14.7 vs. 34.8 ± 25.1, <italic>p</italic> = 0.034) and medial levels (23.5 ± 21 vs. 38.0 ± 25.6, <italic>p</italic> = 0.044) were observed between CMT1 and CMT2 patients. Between PMP2 duplication and MFN2 mutation group, a significant difference in the soleus muscle FF was also observed (23.5 ± 21.0 vs. 54.7 ± 20.2, <italic>p</italic> = 0.039). Prominent correlations of calf muscle FFs with functional scores were observed.</p></sec><sec id="sec4"><title>Discussion</title><p>Multi-echo Dixon MRI imaging is a valuable tool for assessing disease severity in CMT. The difference in patterns of fatty infiltration of CMT subtypes is first reported, which could provide references when making targeted training plans.</p></sec>