Spinocerebellar Ataxia Type 31 Exacerbated by Anti-amino Terminal of Alpha-enolase Autoantibodies.
anti-amino terminal of alpha-enolase antibody
autoimmune cerebellar ataxia
hashimoto's encephalopathy
immune-mediated cerebellar ataxia
spinocerebellar ataxia
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
2022
2022
Historique:
entrez:
14
9
2022
pubmed:
15
9
2022
medline:
17
9
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36104177
doi: 10.2169/internalmedicine.8883-21
pmc: PMC9556240
doi:
Substances chimiques
Autoantibodies
0
Phosphopyruvate Hydratase
EC 4.2.1.11
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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