Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A-Reference-Cited by-同舟云学术

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

Published:2024-04-13 Issue:1 Volume:96 Page:170-174
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Annals of Neurology

Author:

Doherty Carolynne M.¹^ORCID,Howard Paige²,O'Donnell Luke F.¹^ORCID,Zuccarino Riccardo²³,Wastling Stephen⁴,Milev Evelin⁵,Banks Tina⁶,Shah Sachit⁴,Zafeiropoulos Nick⁴,Stephens Katherine J.²,Sarkozy Anna⁵,Grider Tiffany²,Feely Shawna M. E.⁷,Manzur Adnan⁵,Shy Rosemary R.²,Skorupinska Mariola¹,Pipis Menelaos¹,Nicolaisen Emma²,McDowell Amy¹⁴,Dilek Nuran⁸,Rossor Alexander M.¹^ORCID,Laura Matilde¹,Clark Christopher⁶,Muntoni Francesco⁵,Thedens Daniel²,Thornton John⁴,Morrow Jasper M.¹^ORCID,Shy Michael E.²^ORCID,Reilly Mary M.¹

Affiliation:

1. Center for Neuromuscular Diseases, Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK

2. Roy and Lucille Carver College of Medicine, University of Iowa Iowa City IA USA

3. Fondazione Serena Onlus, Centro Clinico NeMO Trento Italy

4. Lysholm Department of Radiology National Hospital for Neurology and Neurosurgery London UK

5. Dubowitz Neuromuscular Center, Great Ormond Street Hospital London UK

6. Department of Radiology Great Ormond Street Hospital London UK

7. Division of Pediatric Neurology Seattle Children's Hospital, University of Washington School of Medicine Seattle WA USA

8. University of Rochester School of Medicine and Dentistry New York NY USA

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

Funder

Muscular Dystrophy Association

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26934

Reference15 articles.

1. Charcot-Marie-Tooth disease

2. DNA duplication associated with Charcot-Marie-Tooth disease type 1A

3. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

4. Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints

5. CMT1A current gene therapy approaches and promising biomarkers