CHCHD10-related spinal muscular atrophy, or SMAJ, is a very rare disease described by Finnish researchers. It is of mitochondrial origin, mainly affects adults and is transmitted in an autosomal dominant mode. The same researchers compared several neuronal and muscular markers in a cohort of 49 patients and in healthy controls:
- surprisingly, the neurofilament Nfl, a classic marker of axonal degeneration, was not altered in the patients;
- in contrast, the authors report a significant change in six other metabolites;
- creatine, pyruvate, taurine, N-acetylcarnosine and succinate were higher than normal;
- creatinine was lowered.
