AI 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
Article Abstract
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.
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| http://dx.doi.org/10.1002/mds.28801 | DOI Listing |
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