The Inherited Neuropathies Consortium (INC) has published the medical and genetic data of 387 patients with Charcot-Marie-Tooth X1 disease (linked to the GJB1 gene), followed for at least seven years.
- One hundred and fifty-four variants of the GJB1 gene were analyzed. No genotype-phenotype correlation was found, contrary to what was thought in the first small-scale studies on the subject.
- CMT X1 is more severe in men than in women, and progresses slowly, making it more difficult to demonstrate a significant benefit in future clinical trials. The authors recommend combining biomarkers (fatty infiltration measured on MRI, blood markers, etc.) with CMT-specific functional scores (CMTES score in particular).
- No central nervous system abnormalities were observed.
A publication by Filnemus experts on 137 women with CMT X1 shows the importance of evoking the diagnosis of this form of CMT in women with chronic neuropathy, asymmetric muscle damage and heterogeneous nerve conduction velocities.
