Publications by authors named "Susan C Ortega"
Article Synopsis
- X-linked dystonia parkinsonism (XDP), also known as "Lubag," is a genetic condition predominantly seen in Filipinos, characterized by symptoms of both dystonia and parkinsonism that can respond to levodopa treatment.
- The study focused on analyzing skin biopsies for phosphorylated α-synuclein (P-SYN) in XDP patients, utilizing a retrospective chart review of six individuals with the XDP gene mutation.
- Findings revealed that among the patients studied, five displayed dystonia and parkinsonism, with P-SYN detected in both levodopa-responsive patients and one asymptomatic patient, suggesting that XDP may represent a new form of synucleinopathy or coexist with Parkinson's disease in some cases
