Researchers in Sao Paulo, Brazil, report the clinical and paraclinical observations of two families diagnosed with X-linked Charcot-Marie-Tooth (CMT) disease:
- mutations in the PKD3 gene, including a new one, were identified in these two families, enabling them to be classified as CMTX6, an ultra-rare subtype of CMT in which only a few patients have been reported to date (3 families in total, in Australia, South Korea and Germany),
- the PKD3 gene encodes pyruvate dehydrogenase kinase 3,
- the axonal neuropathy observed in patients was accompanied by neuropathic pain,
- the men affected were much more symptomatic than the women.
These data contribute to a better understanding of the history of the disease in this currently very rare form of X-linked CMT.
