The Inherited Neuropathies Consortium (INC) has published the medical and genetic data of 387 patients suffering from Charcot-Marie-Tooth X1 disease (linked to the GJB1 gene), followed for up to seven years.
- One hundred and fifty-four variants of the GJB1 gene were analysed. No genotype-phenotype correlation was found, contrary to what was thought in the first small-scale studies on the subject.
- CMTX1 is more severe in men than in women and progresses slowly, making it more difficult to demonstrate a significant benefit in any clinical trials. The authors recommend combining biomarkers (fatty infiltration measured on MRI, blood markers, etc.) with functional scores specific to CMT (CMTES score in particular).
- No abnormalities of the central nervous system were observed.
