Dusi et al (AJHG, 94, 11-22) report mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation (NBIA). This gene is particularly interesting, as another member of the CoA biosynthetic pathway, PANK2, also causes NBIA. It is not clear why a gene with such seemingly ubiquitous function should cause such specific neurologic abnormalities.
Since only about 70% of cases of NBIA have a known genetic etiology, perhaps other components of CoA synthesis will be implicated in the future.
Hilary Vernon, MD PhD