A young-onset dementia case associated with PDGFRβ mutation
Journal of Alzheimer's Disease Reports, cilt.9, 2025 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 9
- Basım Tarihi: 2025
- Doi Numarası: 10.1177/25424823251359592
- Dergi Adı: Journal of Alzheimer's Disease Reports
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
- Anahtar Kelimeler: Alzheimer's disease, neurogenetics, PDGFRB mutation, vascular dysfunction, young-onset dementia
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
We report a case of young-onset dementia (YOD) in a 40-year-old male with a heterozygous missense variant in the PDGFRβ gene. The patient exhibited progressive memory decline and disorientation. Brain MRI and cerebrospinal fluid biomarkers were consistent with Alzheimer's disease. Whole-exome sequencing identified a likely pathogenic PDGFRB c.1316G > A (p.Arg439Gln) variant. This report highlights a novel potential genetic contributor to vascular dysfunction and cognitive decline.