The first example of this possibility was the identification of the human deafness dystonia syndrome or Mohr-Tranebjaerg syndrome (MTS/DFN-1), a recessive, X-linked neurodegenerative disorder characterized by progressive sensorineural deafness, cortical blindness, dystonia, dysphagia and paranoia that is caused by mutations or deletion of the DDFP-TIMM8a, the human homologue of yeast Tim8 [54,55]. This evidence concerns the gene TIMM8A and deafness dystonia syndrome.