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Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman, Vera; Sillau, Stefan; Bockhorst, Jacob; Smith, Kaitlin; Moroni, Isabella; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Guiseppe; Laurá, Matilde; Muntoni, Francesco; Bacon, Chelsea; Feely, Shawna; Grider, Tiffany; Gutmann, Laurie; Shy, Rosemary; Wilcox, Janel; Herrmann, David N; Li, Jun; Ramchandren, Sindhu; Sumner, Charlotte J; Lloyd, Thomas E; Day, John; Siskind, Carly E; Yum, Sabrina W; Sadjadi, Reza; Finkel, Richard S; Scherer, Steven S; Pareyson, Davide; Reilly, Mary M; Shy, Michael E.
Afiliación
  • Fridman V; Department of Neurology, University of Colorado Denver, Aurora, CO, USA.
  • Sillau S; Department of Neurology, University of Colorado Denver, Aurora, CO, USA.
  • Bockhorst J; Department of Neurology, University of Colorado Denver, Aurora, CO, USA.
  • Smith K; Department of Neurology, University of Colorado Denver, Aurora, CO, USA.
  • Moroni I; Department of Child Neurology, Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Pagliano E; Department of Child Neurology, Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Pisciotta C; Department of Clinical Neurosciences, Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Piscosquito G; Department of Clinical Neurosciences, Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Laurá M; Maugeri Scientific Clinical Institutes, Neurorehabilitation Unit, Scientific Institute of Telese Terme, Telese Terme, Italy.
  • Muntoni F; Centre for Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK.
  • Bacon C; Dubowitz Neuromuscular Centre, University College London Institute of Child Health and Great Ormond Street Hospital, London, UK.
  • Feely S; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Grider T; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Gutmann L; Department of Neurology, Wayne State University, Detroit, MI, USA.
  • Shy R; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Wilcox J; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Herrmann DN; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Li J; Department of Neurology, Wayne State University, Detroit, MI, USA.
  • Ramchandren S; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Sumner CJ; Department of Neurology, University of Rochester, Rochester, NY, USA.
  • Lloyd TE; Department of Neurology, Wayne State University, Detroit, MI, USA.
  • Day J; Department of Neurology, Vanderbilt University, Nashville, TN, USA.
  • Siskind CE; Department of Neurology, Wayne State University, Detroit, MI, USA.
  • Yum SW; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
  • Sadjadi R; PRA Health Sciences, Raleigh, NC, USA.
  • Finkel RS; Departments of Neurology and Neuroscience, John Hopkins University School of Medicine, Baltimore, MD, USA.
  • Scherer SS; Departments of Neurology and Neuroscience, John Hopkins University School of Medicine, Baltimore, MD, USA.
  • Pareyson D; Department of Neurology, Stanford University, Stanford, CA, USA.
  • Reilly MM; Department of Neurology, Stanford University, Stanford, CA, USA.
  • Shy ME; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ann Neurol ; 93(3): 563-576, 2023 03.
Article en En | MEDLINE | ID: mdl-36203352
OBJECTIVE: The paucity of longitudinal natural history studies in MPZ neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural history study in patients with MPZ neuropathies across 13 sites of the Inherited Neuropathies Consortium. METHODS: Change in Charcot-Marie-Tooth Examination Score (CMTES) and Rasch modified CMTES (CMTES-R) were evaluated using longitudinal regression over a 5-year period in subjects with MPZ neuropathy. Data from 139 patients with MPZ neuropathy were examined. RESULTS: The average baseline CMTES and CMTES-R were 10.84 (standard deviation [SD] = 6.0, range = 0-28) and 14.60 (SD = 7.56, range = 0-32), respectively. A mixed regression model showed significant change in CMTES at years 2-5 (mean change from baseline of 0.87 points at 2 years, p = 0.008). Subgroup analysis revealed greater change in CMTES at 2 years in subjects with axonal as compared to demyelinating neuropathy (mean change of 1.30 points [p = 0.016] vs 0.06 points [p = 0.889]). Patients with a moderate baseline neuropathy severity also showed more notable change, by estimate, than those with mild or severe neuropathy (mean 2-year change of 1.14 for baseline CMTES 8-14 [p = 0.025] vs -0.03 for baseline CMTES 0-7 [p = 0.958] and 0.25 for baseline CMTES ≥ 15 [p = 0.6897]). The progression in patients harboring specific MPZ mutations was highly variable. INTERPRETATION: CMTES is sensitive to change over time in adult patients with axonal but not demyelinating forms of MPZ neuropathy. Change in CMTES was greatest in patients with moderate baseline disease severity. These findings will inform future clinical trials of MPZ neuropathies. ANN NEUROL 2023;93:563-576.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Ann Neurol Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Ann Neurol Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos