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Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Doherty, Carolynne M; Morrow, Jasper M; Zuccarino, Riccardo; Howard, Paige; Wastling, Stephen; Pipis, Menelaos; Zafeiropoulos, Nick; Stephens, Katherine J; Grider, Tiffany; Feely, Shawna M E; Nopoulous, Peggy; Skorupinska, Mariola; Milev, Evelin; Nicolaisen, Emma; Dudzeic, Magdalena; McDowell, Amy; Dilek, Nuran; Muntoni, Francesco; Rossor, Alexander M; Shah, Sachit; Laura, Matilde; Yousry, Tarek A; Thedens, Daniel; Thornton, John; Shy, Michael E; Reilly, Mary M.
Afiliación
  • Doherty CM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Morrow JM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Zuccarino R; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • Howard P; Fondazione Serena Onlus, Centro Clinico NeMO Trento, Pergine Valsugana, Italy.
  • Wastling S; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • Pipis M; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.
  • Zafeiropoulos N; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Stephens KJ; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.
  • Grider T; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • Feely SME; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • Nopoulous P; Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA.
  • Skorupinska M; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • Milev E; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Nicolaisen E; Great Ormond Street Hospital, London, UK.
  • Dudzeic M; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • McDowell A; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Dilek N; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Muntoni F; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.
  • Rossor AM; University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
  • Shah S; Great Ormond Street Hospital, London, UK.
  • Laura M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Yousry TA; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.
  • Thedens D; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Thornton J; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.
  • Shy ME; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • Reilly MM; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.
Ann Clin Transl Neurol ; 11(3): 607-617, 2024 Mar.
Article en En | MEDLINE | ID: mdl-38173284
ABSTRACT

OBJECTIVE:

With potential therapies for many forms of Charcot-Marie-Tooth disease (CMT), responsive outcome measures are urgently needed for clinical trials. Quantitative lower limb MRI demonstrated progressive calf intramuscular fat accumulation in the commonest form, CMT1A with large responsiveness. In this study, we evaluated the responsiveness and validity in the three other common forms, due to variants in GJB1 (CMTX1), MPZ (CMT1B) and MFN2 (CMT2A).

METHODS:

22 CMTX1, 21 CMT1B and 21 CMT2A patients and matched controls were assessed at a 1-year interval. Intramuscular fat fraction (FF) was evaluated using three-point Dixon MRI at thigh and calf level along with clinical measures including CMT examination score, clinical strength assessment, CMT-HI and plasma neurofilament light chain.

RESULTS:

All patient groups had elevated muscle fat fraction at thigh and calf levels, with highest thigh FF and atrophy in CMT2A. There was moderate correlation between calf muscle FF and clinical measures (CMTESv2 rho = 0.405; p = 0.001, ankle MRC strength rho = -0.481; p < 0.001). Significant annualised progression in calf muscle FF was seen in all patient groups (CMTX1 2.0 ± 2.0%, p < 0.001, CMT1B 1.6 ± 2.1% p = 0.004 and CMT2A 1.6 ± 2.1% p = 0.002). Greatest increase was seen in patients with 10-70% FF at baseline (calf 2.7 ± 2.3%, p < 0.0001 and thigh 1.7 ± 2.1%, p = 0.01).

INTERPRETATION:

Our results confirm that calf muscle FF is highly responsive over 12 months in three additional common forms of CMT which together with CMT1A account for 90% of genetically confirmed cases. Calf muscle MRI FF should be a valuable outcome measure in upcoming CMT clinical trials.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Límite: Humans Idioma: En Revista: Ann Clin Transl Neurol Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Límite: Humans Idioma: En Revista: Ann Clin Transl Neurol Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos