Further insights into anti-IgLON5 disease: a case with complex clinical presentation
Hemifacial and hemiorolingual myorhythmia along with peculiar oculomotor abnormalities characterizes the multifaceted clinical picture of our case. The complex semiology of our patient may reflect multifocal targeting of the autoimmune process or sequential spreading of tau inclusions in different brain areas. Our patient's optimal response to glucocorticoid monotherapy could be underpinned by a slightly different phenotype in which autoimmunity plays a greater pathogenic role than tauopathy, with a lower burden of tau deposition. In such patients, neurodegeneration and tau accumulation could be merely secondary to immune-mediated neuronal dysfunction, supporting the existence of a group of glucocorticoid-responsive patients.
Authors
- Antonia Ratti (ORCID: https://orcid.org/0000-0002-4264-6614)
- Vincenzo Silani (ORCID: https://orcid.org/0000-0002-7698-3854)
- Claudia Morelli (ORCID: https://orcid.org/0000-0003-4027-958X)
- Luca Maderna (ORCID: https://orcid.org/0000-0002-7589-6249)
- Nicola Ticozzi (ORCID: https://orcid.org/0000-0001-5963-7426)
- Alessio Maranzano (ORCID: https://orcid.org/0000-0002-3642-9584)
- Federico Verde (ORCID: https://orcid.org/0000-0002-3977-6995)
- F. Girotti
- Francesca Andreetta (ORCID: https://orcid.org/0000-0001-8239-8830)
- Alberto Doretti (ORCID: https://orcid.org/0000-0002-1015-7365)
- Eleonora Colombo (ORCID: https://orcid.org/0000-0003-0689-2989)
- Stefano Messina
- Simone Pierro
- Anna De Gobbi
Institutions
- University of Milan (IT)
- IRCCS Istituto Auxologico Italiano (IT)
- Ferrari (Italy) (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Publication Details
- Journal
- BMC Neurology
- Published
- 2024-09-10
- DOI
- https://doi.org/10.1186/s12883-024-03837-3
- Citations
- 1
- Primary Topic
- Autoimmune Neurological Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.37
Funders
- Ministero della Salute