Pearls & Oy-sters: A Novel Presentation of Ataxia With Vitamin E Deficiency Caused by TTPA Gene Mutation

Neurology. 2021 Jan 26;96(4):e640-e642. doi: 10.1212/WNL.0000000000010853. Epub 2020 Sep 14.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Ataxia / diagnosis*
  • Ataxia / genetics*
  • Carrier Proteins / genetics*
  • Diagnosis, Differential
  • Humans
  • Male
  • Mutation / genetics*
  • Vitamin E Deficiency / diagnosis*
  • Vitamin E Deficiency / genetics*

Substances

  • Carrier Proteins
  • alpha-tocopherol transfer protein

Supplementary concepts

  • Ataxia with vitamin E deficiency