Clinical and Molecular Landscape of Amyotrophic Lateral Sclerosis Patients with OPTN Variants from Turkey and Possible Therapeutic Response to Inhibation of RIPK1 (P11-11.028)
In this study, we aim to define detailed clinical and genetic characteristics of patients with variants in OPTN from Turkey. Here we also describe the baseline characteristics, treatment and safety outcomes of three patients with OPTN-ALS treated with primidone, a RIPK1 inhibitor drug.
Authors
- Arman Çakar (ORCID: https://orcid.org/0000-0002-8129-4172)
- Merve Alaylıoğlu (ORCID: https://orcid.org/0000-0002-3396-5437)
- Hacer Durmuş (ORCID: https://orcid.org/0000-0002-6426-676X)
- Zehra Oya Uyguner (ORCID: https://orcid.org/0000-0002-2035-4338)
- Fatma Yeşim Parman
- Erdinç Dursun (ORCID: https://orcid.org/0000-0003-3701-6674)
- Ebru Erzurumluoğlu Gökalp (ORCID: https://orcid.org/0000-0002-1275-5174)
- Esen Kıyan (ORCID: https://orcid.org/0000-0003-0023-6518)
- Duygu Gezen‐Ak (ORCID: https://orcid.org/0000-0001-7611-2111)
Institutions
- Istanbul University-Cerrahpaşa (TR)
- Eskişehir Osmangazi University (TR)
- Istanbul University (TR)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211223
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00