Background: Serum fibroblast growth factor 21 (FGF21) was proven to be a useful biomarker for the presence of mitochondrial neuromuscular disease.
Methods: In the present study, we used the difference in the serum FGF21 level to differentiate between ataxia patients with hereditary spinocerebellar atrophy (SCA-ataxia) and those with mitochondrial syndrome (Mito-ataxia). Patients with SCA-ataxia (SCA2, SCA3) and Mito-ataxia (MELAS, MERRF, LHON, maternal inherited hearing impairment mtDNA A1555G mutation) were recruited in this study. All SCA-ataxia patients revealed a consistent pattern of cerebellar atrophy. On the contrary, some of the Mito-ataxia patients exhibited a vascular lesion with cerebellar infarction.
Results: Extremely higher levels of serum FGF21 were found in the Mito-ataxia patients with MERRF and MELAS diseases, but not in patients with SCA-ataxia or LHON/mtDNA A1555G mutation. The positive trend between the mtDNA heteroplasmy and serum FGF21 was indicated in either MERRF (P=0.003, r=0.923) or MELAS (P=0.070, r=0.566) patients.
Conclusion: Serum FGF21 can be applied as the first molecular screening among patients suspected to be victims of hereditary ataxia with neuromuscular degeneration prior to mass genetic screening.
Copyright © 2012 Elsevier B.V. All rights reserved.