Spinocerebellar Ataxia Type 31 Exacerbated by Anti-amino Terminal of Alpha-enolase Autoantibodies

Intern Med. 2022;61(18):2793-2796. doi: 10.2169/internalmedicine.8883-21. Epub 2022 Sep 15.

Abstract

We herein report a 61-year-old woman who was genetically diagnosed with spinocerebellar ataxia type 31 whose symptoms were modified by anti-amino terminal of alpha-enolase (NAE) antibodies, known as a biomarker of Hashimoto's encephalopathy (HE), and ultimately responded to immunotherapy. The relative titers of anti-NAE antibodies increased when her cerebellar ataxia showed acute deterioration and decreased after immunotherapy. This is the first report of cerebellar ataxia associated with genetic spinocerebellar ataxia with concomitant cerebellar type HE. Physicians should be mindful of measuring anti-NAE antibodies to prevent overlooking patients with genetic spinocerebellar ataxia with treatable simultaneous ataxic diseases.

Keywords: anti-amino terminal of alpha-enolase antibody; autoimmune cerebellar ataxia; hashimoto's encephalopathy; immune-mediated cerebellar ataxia; spinocerebellar ataxia.

Publication types

  • Case Reports

MeSH terms

  • Autoantibodies
  • Cerebellar Ataxia* / diagnosis
  • Encephalitis
  • Female
  • Hashimoto Disease
  • Humans
  • Middle Aged
  • Phosphopyruvate Hydratase
  • Spinocerebellar Ataxias*

Substances

  • Autoantibodies
  • Phosphopyruvate Hydratase

Supplementary concepts

  • Hashimoto's encephalitis
  • Spinocerebellar Ataxia 31