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AAN 2024 | Quantifying alpha-synuclein in the skin for the diagnosis of DLB: insights from Synuclein-One

Christopher Gibbons, MD, FAAN, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, discusses a sub-group analysis from the Synuclein-One Study (NCT04700722), focusing on the diagnosis of dementia with Lewy bodies (DLB) by the quantification of misfolded alpha-synuclein in the skin. Of the 50 patients confirmed to have clinical DLB by an expert panel, 96% of them were positive on the diagnostic test. A control group was analyzed to quantify the false positive rate of the test, which was 3.3%. This test was also able to identify controls who had mild cognitive impairment (MCI), suggesting its value in early diagnosis before disease onset. This study also found skin biopsies to be over 95% specific and sensitive in diagnosing disease in patients with Parkinson’s disease (PD), multiple system atrophy, and pure autonomic failure. This interview took place at the American Academy of Neurology (AAN) Annual Meeting 2024 in Denver, CO.

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