We would like to share with you the latest scientific studies on CMT2A that we recently found on Pubmed. As usual, we have divided the publications by country, respecting the classification we use on our web portal in the Resources section .
In this session, however, we have focused on CMT2A and optic atrophy, frequently recurring in subjects suffering from Charcot-Marie-Tooth type 2A, which is still little talked about.
The first, carried out by the University of Bari (Italy) together with that of Geneva (Switzerland), reports the clinical and genetic results of a study on a 40-year-old Caucasian woman with type 2A and MFN2 CMT mutations who presented atrophy bilateral optics. This is one of the first studies on the subject and opens the way to the need to further investigate the molecular mechanisms underlying the alteration of Mitofusin-2 function in the optic nerve.
The second is an American scientific study (USA) which demonstrates how optic atrophy occurs only in some patients with CMT2A, while in others there is no discernible optic nerve involvement. This suggests that optic neuropathy is specific to certain MFN2 mutations in CMT2A.
The third instead is a study carried out by an Israeli (Israel) and a New York University. Unfortunately there are no abstracts available.
Hoping to have done something useful, we invite you to read the studies and we remain at your disposal if you need any clarification on the subject!