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

Share

Objective:

To define the genotype-phenotype spectrum and progression of Charcot-Marie-Tooth disease associated with SORD mutations, highlighting its implications for future therapies.

Key Findings:
  • c.757delG (p.Ala253GlnfsTer27) is the most common pathogenic allele, confirming previous studies.
  • Average serum sorbitol levels were significantly higher in CMT-SORD patients, supporting its role as a biomarker.
  • Two-thirds of cases were diagnosed with CMT2, one-third with distal hereditary motor neuropathy, indicating a need for tailored management.
  • Foot dorsiflexion was the most affected muscle group, with similar weakness in plantar flexion, highlighting the clinical presentation.
  • Nerve conduction studies indicated motor predominant axonal neuropathy, consistent with the disease's pathology.
Interpretation:

CMT-SORD is a prevalent form of axonal, motor predominant CMT characterized by significant foot muscle involvement and elevated serum sorbitol as a reliable biomarker, with implications for diagnosis and treatment.

Limitations:
  • Cross-sectional design limits understanding of disease progression and long-term outcomes.
  • Potential variability in genetic testing methodologies across centers may affect the consistency of results.
Conclusion:

CMT-SORD is a common recessive form of CMT with distinct clinical features and a reliable biomarker for diagnosis and assessment, paving the way for future research and therapeutic strategies.

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

Related Content

What is ALS, also known as Lou Gehrig's disease?

Coffee, Tea Linked to Lower Dementia Risk

Caffeinated beverages were associated with modest cognitive benefits in long-term study

When Guillain-Barré Signals Lyme 

A case highlights how evolving neurologic findings can prompt testing for tick-borne infection.

  • March 25, 2026

  • 3 min