title: FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Changhua Christian Hospital, Changhua 500, Taiwan.
authors.forename: Shih-Li
authors.initials: SL
authors.lastname: Su
authors.forename: Wen-Fu
authors.initials: WF
authors.lastname: Wang
authors.forename: Shey-Lin
authors.initials: SL
authors.lastname: Wu
authors.forename: Hung-Ming
authors.initials: HM
authors.lastname: Wu
authors.forename: Jui-Chih
authors.initials: JC
authors.lastname: Chang
authors.forename: Ching-San
authors.initials: CS
authors.lastname: Huang
authors.forename: Wen-Ling
authors.initials: WL
authors.lastname: Cheng
authors.forename: Bing-Wen
authors.initials: BW
authors.lastname: Soong
authors.forename: Yi-Chung
authors.initials: YC
authors.lastname: Lee
authors.forename: Jie-Yuan
authors.initials: JY
authors.lastname: Li
authors.forename: Shou-Jen
authors.initials: SJ
authors.lastname: Kuo
authors.forename: Ming
authors.initials: M
authors.lastname: Chen
authors.forename: Chie-Ning
authors.initials: CN
authors.lastname: Huang
authors.forename: Chin-San
authors.initials: CS
authors.lastname: Liu
mesh_terms: D000328:Adult; D001259:Ataxia / Q000097:blood* / Q000175:diagnosis; D015415:Biomarkers / Q000097:blood; D004272:DNA, Mitochondrial / Q000235:genetics; D004797:Enzyme-Linked Immunosorbent Assay; D005346:Fibroblast Growth Factors / Q000097:blood*; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000097:blood* / Q000175:diagnosis; D009154:Mutation; D020754:Spinocerebellar Ataxias / Q000097:blood* / Q000175:diagnosis
chemical_list: D015415:Biomarkers; D004272:DNA, Mitochondrial; C414620:fibroblast growth factor 21; D005346:Fibroblast Growth Factors