In a new paper published in Movement Disorders, researchers for the first time established a link between the presence of misfolded alpha-synuclein and X-linked dystonia-Parkinsonism, also known as “Lubag.”
Lubag is a rare movement disorder that primarily affects Filipino men, many of whom present with parkinsonism and have abnormal DAT scans, characteristics shared with patients diagnosed with Parkinson’s disease. Because the presence of alpha-synuclein is a known cause of Parkinson’s, researchers hypothesized that they would detect alpha-synuclein in patients with Lubag.
Researchers identified 6 patients with genetically confirmed cases of Lubag and used the Syn-One Test™ to analyze 3 skin biopsies from each of them. Five of the 6 patients, all of whom also had abnormal DAT scans, had deposits of alpha-synuclein in the nerve fibers of their skin. One patient with a normal DAT scan did not test positive for alpha-synuclein.
One explanation for the results is that Lubag may belong to the family of neurodegenerative disorders known as synucleinopathies, which includes Parkinson’s and dementia with Lewy bodies. Another possibility is that patients with Lubag may be in the beginning stages of Parkinson’s. Larger prospective studies will be needed to help determine the relationship between alpha-synuclein and Lubag.