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 di...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.展开更多
文摘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.
