Tofacitinib improves motor symptoms in parkinsonism associated with a heterozygous NGLY1 variant and autoimmune disease
Tofacitinib, a Janus kinase inhibitor, was associated with clinical improvement of parkinsonian symptoms in a patient with systemic autoimmune disease, suggesting a potential modulatory role of inflammation in refractory movement disorders.The presence of a heterozygous N-glycanase 1 variant may contribute to susceptibility or clinical expression of parkinsonism in the setting of immune or inflammatory dysregulation.This case underscores the interplay between immunological and neurodegenerative mechanisms when facing atypical or treatment-refractory neurological presentations.
Authors
- Jorge Álvarez Troncoso (ORCID: https://orcid.org/0000-0003-1108-9461)
- Soledad Serrano López (ORCID: https://orcid.org/0000-0002-0299-6679)
- Nuria Reina-Llompart
- Gabriel Torres-Iglesias
Institutions
- Hospital Universitario La Paz (ES)
- Hospital Universitari Germans Trias i Pujol (ES)
Publication Details
- Journal
- European Journal of Case Reports in Internal Medicine
- Published
- 2025-10-27
- DOI
- https://doi.org/10.12890/2025_005886
- Citations
- 1
- Primary Topic
- Autoimmune Neurological Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.39