Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Jul;96(1):170-174.
doi: 10.1002/ana.26934. Epub 2024 Apr 13.

Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A

Carolynne M Doherty  1 , Paige Howard  2 , Luke F O'Donnell  1 , Riccardo Zuccarino  2   3 , Stephen Wastling  4 , Evelin Milev  5 , Tina Banks  6 , Sachit Shah  4 , Nick Zafeiropoulos  4 , Katherine J Stephens  2 , Anna Sarkozy  5 , Tiffany Grider  2 , Shawna M E Feely  7 , Adnan Manzur  5 , Rosemary R Shy  2 , Mariola Skorupinska  1 , Menelaos Pipis  1 , Emma Nicolaisen  2 , Amy McDowell  1   4 , Nuran Dilek  8 , Alexander M Rossor  1 , Matilde Laura  1 , Christopher Clark  6 , Francesco Muntoni  5 , Daniel Thedens  2 , John Thornton  4 , Jasper M Morrow  1 , Michael E Shy  2 , Mary M Reilly  1
Affiliations

Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A

Carolynne M Doherty et al. Ann Neurol. 2024 Jul.

Abstract

Quantitative muscle fat fraction (FF) responsiveness is lower in younger Charcot-Marie-Tooth disease type 1A (CMT1A) patients with lower baseline calf-level FF. We investigated the practicality, validity, and responsiveness of foot-level FF in this cohort involving 22 CMT1A patients and 14 controls. The mean baseline foot-level FF was 25.9 ± 20.3% in CMT1A patients, and the 365-day FF (n = 15) increased by 2.0 ± 2.4% (p < 0.001 vs controls). Intrinsic foot-level FF demonstrated large responsiveness (12-month standardized response mean (SRM) of 0.86) and correlated with the CMT examination score (ρ = 0.58, P = 0.01). Intrinsic foot-level FF has the potential to be used as a biomarker in future clinical trials involving younger CMT1A patients. ANN NEUROL 2024;96:170-174.

PubMed Disclaimer

References

    1. Reilly MM, Murphy SM, Laurá M. Charcot‐Marie‐tooth disease. J Peripher Nerv Syst 2011;16:1–14.
    1. Lupski JR, de Oca‐Luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot‐Marie‐tooth disease type 1A. Cell 1991;66:219–232.
    1. Raeymaekers P, Timmerman V, Nelis E, et al. Duplication in chromosome 17p11.2 in Charcot‐Marie‐Tooth neuropathy type 1a (CMT 1a). The HMSN collaborative research group. Neuromuscul Disord 1991;1:93–97.
    1. Reilly MM, Herrmann DN, Pareyson D, et al. Trials for slowly progressive neurogenetic diseases need surrogate endpoints. Ann Neurol 2023;93:906–910.
    1. Stavrou M, Kleopa KA. CMT1A current gene therapy approaches and promising biomarkers. Neural Regen Res 2023;18:1434–1440.

LinkOut - more resources