Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD - Takeaways - MDSpire

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

  • By

  • Andrea Cortese

  • Maike F Dohrn

  • Riccardo Curro

  • Sara Negri

  • Petra Lassuthova

  • Chiara Pisciotta

  • Stefano Tozza

  • Abdullah Al-Ajmi

  • Changyong Feng

  • Pedro J Tomaselli

  • Gorka Fernandez-Eulate

  • Saif Haddad

  • Matilde Laurà

  • Alexander M Rossor

  • Elisa Vegezzi

  • Stefano Facchini

  • James N Sleigh

  • Adriana Rebelo

  • Danique Beijer

  • Jacquelyn Raposo

  • Mario Saporta

  • Barbora Lauerova

  • Helena F Pernice

  • Pascal Achenbach

  • Ulrike Schöne

  • Tayir Alon

  • Marcus Deschauer

  • Isabell Cordts

  • Carolin D Obermaier

  • Natalie Winter

  • Peter D Creigh

  • Janet E Sowden

  • Tyler Rehbein

  • Stefania Magri

  • Alessandro Bertini

  • Paola Saveri

  • Paolo Ripellino

  • Jingyu Huang

  • Aleksandra Nadaj-Pakleza

  • Alison Ross

  • James K L Holt

  • Kathryn M Brennan

  • Rivka Sukenik-Halevy

  • Varoona Bizaoui

  • Yesim Parman

  • Esra Battaloglu

  • Arman Cakar

  • Hadil Alrohaif

  • Simon Hammans

  • Kishore R Kumar

  • Marina L Kennerson

  • Hülya Kayserili

  • Defne A Amado

  • Katrin Hahn

  • Paola Valentino

  • Francesca Cavalcanti

  • Carlo Gaetano

  • Franco Taroni

  • Geir J Braathen

  • Henry Houlden

  • Tanya Stojkovic

  • Stojan Peric

  • Alessandra Bolino

  • Stefano C Previtali

  • Lee Yi-Chung

  • Ayşe N Başak

  • Sherifa A Hamed

  • Ricardo Rojas-Garcia

  • Kristl G Claeys

  • Wilson Marques

  • Teresa Sevilla

  • Beate Schlotter-Weigel

  • Fiore Manganelli

  • Ruxu Zhang

  • David N Herrmann

  • Steven S Scherer

  • Pavel Seeman

  • Davide Pareyson

  • Mary M Reilly

  • Michael E Shy

  • The Inherited Neuropathy Consortium

  • Stephan Züchner

  • February 13, 2025

  • 0 min

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  • 1

    Biallelic loss-of-function mutations in the SORD gene are the most common cause of Charcot-Marie-Tooth disease, specifically CMT-SORD.

  • 2

    The study identified 144 patients, confirming c.757delG as the most prevalent pathogenic allele associated with CMT-SORD.

  • 3

    CMT-SORD patients exhibited significantly elevated serum sorbitol levels, serving as a reliable biomarker for the disease.

  • 4

    Two-thirds of patients were diagnosed with CMT2, with foot dorsiflexion and plantar flexion being the most affected muscle groups.

  • 5

    Ongoing clinical trials are evaluating govorestat, an aldose reductase inhibitor, as a potential disease-modifying therapy for CMT-SORD.

Original Source(s)

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

  • by Andrea Cortese, Maike F Dohrn, Riccardo Curro, Sara Negri, Petra Lassuthova, Chiara Pisciotta, Stefano Tozza, Abdullah Al-Ajmi, Changyong Feng, Pedro J Tomaselli, Gorka Fernandez-Eulate, Saif Haddad, Matilde Laurà, Alexander M Rossor, Elisa Vegezzi, Stefano Facchini, James N Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerova, Helena F Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D Obermaier, Natalie Winter, Peter D Creigh, Janet E Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James K L Holt, Kathryn M Brennan, Rivka Sukenik-Halevy, Varoona Bizaoui, Yesim Parman, Esra Battaloglu, Arman Cakar, Hadil Alrohaif, Simon Hammans, Kishore R Kumar, Marina L Kennerson, Hülya Kayserili, Defne A Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C Previtali, Lee Yi-Chung, Ayşe N Başak, Sherifa A Hamed, Ricardo Rojas-Garcia, Kristl G Claeys, Wilson Marques, Teresa Sevilla, Beate Schlotter-Weigel, Fiore Manganelli, Ruxu Zhang, David N Herrmann, Steven S Scherer, Pavel Seeman, Davide Pareyson, Mary M Reilly, Michael E Shy, The Inherited Neuropathy Consortium, Stephan Züchner

  • February 13, 2025

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