Published online Aug 16, 2022. doi: 10.12998/wjcc.v10.i23.8271
Peer-review started: January 20, 2022
First decision: May 11, 2022
Revised: May 23, 2022
Accepted: July 11, 2022
Article in press: July 11, 2022
Published online: August 16, 2022
Processing time: 193 Days and 3.1 Hours
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.
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.
We identified an AVED patient caused by novel mutation in TTPA gene. Our findings widen the known TTPA gene mutation spectrum.
Core Tip: Ataxia with vitamin E deficiency can present as progressive chronic cerebellar ataxia and involuntary movement disorder. Vitamin E supplementation should be initiated as early as possible to stop disease progression.