Plasma vitamin E and coenzyme Q10 levels and clinical significance in patients with autosomal recessive cerebellar ataxia
10.3760/cma.j.issn.1006-7876.2016.06.008
- VernacularTitle:常染色体隐性遗传共济失调患者血浆维生素E和辅酶Q10水平及临床意义
- Author:
Xin ZHANG
;
Weihong GU
;
Guoxiang WANG
;
Yuanyuan CHEN
;
Jin ZHANG
- Publication Type:Journal Article
- Keywords:
Vitamin E;
Coenzymes;
Genes,recessive;
Ataxia;
Chromatography,high pressure liquid
- From:Chinese Journal of Neurology
2016;49(6):463-466
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze plasma vitamin E and CoQ10 levels in patients with autosomal recessive cerebellar ataxia for finding the evidence of the related pathogenesis research and therapeutic strategies.Methods The plasma vitamin E and CoQ10 levels were detected by high performance liquid chromatography (HPLC) with diode array detector in 123 probands of autosomal recessive cerebellar ataxia pedigrees.Quantitation was performed using vitamin E and CoQ10 external standard and two 5-point calibration curve;clinical manifestations were analyzed simuhaneously.Results Vitamin E and CoQ10 levels of healthy subjects in the plasma were (8.77 ± 2.28) μg/ml and (1.31 ± 0.38) μg/ml,respectively;the plasma vitamin E and CoQ10 levels of patients were (5.61 ± 2.04) μg/ml and (0.79 ± 0.26) μg/ml,respectively,which were significantly lower than those in healthy controls (t =11.87,13.15;all P＜ 0.01).Clinical manifestations were characterized by cerebellar symptoms,and gait instability was usually the first recognized abnormality.Most of early onset occurred before the age of 25 years (111/123);dysarthria and abnormal eye movement were observed,with cerebellar atrophy on MRI;concomitant symptoms were also present.Conclusions HPLC analysis shows that the plasma vitamin E and CoQ10 levels of patients with autosomal recessive cerebellar ataxia are generally lower than those in the healthy controls.Several patients with significant reductions in these two levels have genetic defects.The combination of clinical phenotypes,biochemical indexes and genetic analyses will be helpful for the establishment of diagnosis and specific treatment.
