Background: X-linked dystonia parkinsonism (XDP) or "Lubag" is a genetic dystonia syndrome observed among Filipinos that can present with levodopa-responsive parkinsonism and abnormal dopamine transporter (DAT) imaging.
Objective: The aim of this study is to describe the results of skin biopsies for phosphorylated α-synuclein (P-SYN) in XDP.
Method: This study used the retrospective chart review.
Results: We report 6 patients who carried the XDP gene mutation with DAT imaging and skin biopsies to detect P-SYN. Five had segmental or multifocal dystonia and parkinsonism: 4 were levodopa-responsive and 1 non-levodopa-responsive. One patient was asymptomatic but had mild bradykinesia. Cutaneous P-SYN and abnormal DAT scans were noted in the 4 levodopa-responsive patients and 1 asymptomatic patient.
Conclusion: We report for the first time the presence of cutaneous P-SYN in XDP. Our findings suggest that XDP may be a hitherto-undescribed synucleinopathy or that some XDP patients may have concurrent Parkinson's disease.
Keywords: LubagX-linked dystonia parkinsonismα-synucleinDAT scandopamine transportersynucleinopathy.
© 2021 International Parkinson and Movement Disorder Society.