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.

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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
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article

Tofacitinib improves motor symptoms in parkinsonism associated with a heterozygous NGLY1 variant and autoimmune disease

Jorge Álvarez Troncoso, Soledad Serrano López, Nuria Reina-Llompart, Gabriel Torres-Iglesias
1 citations
European Journal of Case Reports in Internal Medicine
Autoimmune Neurological Disorders and Treatments
1.39
article

Tofacitinib improves motor symptoms in parkinsonism associated with a heterozygous NGLY1 variant and autoimmune disease

Jorge Álvarez Troncoso, Soledad Serrano López, Nuria Reina-Llompart, Gabriel Torres-Iglesias
article en
1 citations

Abstract

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.

European Journal of Case Reports in Internal MedicineVol. 12(11)
Hospital Universitario La Paz (ES), Hospital Universitari Germans Trias i Pujol (ES)
Openalex Percentile: Top 14%
Autoimmune Neurological Disorders and Treatments
1.39
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