Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study Vera Fridman , Stefan Sillau , Jacob Bockhorst , Kaitlin Smith , Isabella Moroni , Emanuela Pagliano , Chiara Pisciotta , Guiseppe Piscosquito , Matilde Laurá , Francesco Muntoni , Chelsea Bacon , Shawna Feely , Tiffany Grider , Laurie Gutmann , Rosemary Shy , Janel Wilcox , David N. Herrmann , Jun Li , Sindhu Ramchandren , Charlotte J. Sumner , Thomas E. Lloyd , John Day , Carly E. Siskind , Sabrina W. Yum , Reza Sadjadi , Richard S. Finkel , Steven S. Scherer , Davide Pareyson , Mary M Reilly , Michael E. Shy , Vera Fridman , Stefan Sillau , Gyula Acsadi , Chelsea Bacon , Kimberly Dooley , Joshua Burns , John Day , Shawna Feely , Richard S Finkel , Tiffany Grider , Laurie Gutmann , David N Herrmann , Chelsea Volpenhein , Jacob Bockhorst , Matilde Laurá , Richard A Lewis , Jun Li , Thomas E Lloyd , Isabella Moroni , Francesco Muntoni , Emanuela Pagliano , Davide Pareyson , Chiara Pisciotta , Giuseppe Piscosquito , Sindhu Ramchandren , Mario Saporta , Reza Sadjadi , Rosemary R Shy , Carly E Siskind , Charlotte J Sumner , David Walk , Sabrina W Yum , Stephan Züchner , Steven S Scherer , Mary M Reilly , Michael E Shy Annals of Neurology(2022)
摘要
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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