X‐Linked Dystonia‐Parkinsonism (“Lubag”) May Present with Peripheral Synucleinopathy

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. We report for the first time the presence of cutaneous phosphorylated α‐synuclein in patients with X‐linked dystonia parkinsonism (XDP) or “Lubag.” Our findings suggest that XDP may be a hitherto‐undescribed synucleinopathy or that some XDP patients may have concurrent Parkinson's disease. © 2021 International Parkinson and Movement Disorder Society