Clinical and genetic study of ataxia with vitamin E deficiency: A case report  

作　　者：Lin-Wei Zhang Bing Liu Dan-Tao Peng 

机构地区：[1]Department of Neurology,China-Japan Friendship Hospital,Beijing 100029,China [2]Department of Radiology,China-Japan Friendship Hospital,Beijing 100029,China

出　　处：《World Journal of Clinical Cases》2022年第23期8271-8276,共6页世界临床病例杂志

摘　　要：BACKGROUND Ataxia with vitamin E deficiency(AVED)is a type of autosomal recessive cerebellar ataxia.Clinical manifestations include progressive cerebellar ataxia and movement disorders.TTPA gene mutations cause the disease.CASE SUMMARY We report the case of a 32-year-old woman who presented with progressive cerebellar ataxia,dysarthria,dystonic tremors and a remarkably decreased serum vitamin E concentration.Brain magnetic resonance images showed that her brainstem and cerebellum were within normal limits.Acquired causes of ataxia were excluded.Whole exome sequencing subsequently identified a novel homozygous variant(c.473T>C,p.F158S)of the TPPA gene.Bioinformatic analysis predicted that F185S is harmful to protein function.After supplementing the patient with vitamin E 400 mg three times per day for 2 years,her symptoms remained stable.CONCLUSION We identified an AVED patient caused by novel mutation in TTPA gene.Our findings widen the known TTPA gene mutation spectrum.

关 键 词：Ataxia with vitamin E deficiency TTPA gene TREMOR Case report 

分 类 号：R744.7[医药卫生—神经病学与精神病学]