In the future, a simple skin sample test could help doctors diagnose Parkinson’s disease and three other neurodegenerative diseases marked by a buildup of an altered form of the alpha-synuclein protein in the central nervous system. In a study involving 343 patients aged 40 to 99 treated at 30 medical centers in the USA, neurologist Christopher Gibbons of Harvard Medical School used a chemical marker to identify the altered form of the protein in skin samples. The technique allowed Gibbons to accurately separate people with one of the four diseases — known together as synucleinopathies — from people without. The test detected the altered protein in 93% of people diagnosed with Parkinson’s disease, in 96% of individuals with dementia with Lewy bodies, in 98% of those with multiple system atrophy, and in 100% of individuals with pure autonomic failure. Only 3% of people without a neurological disease tested positive for the altered protein (JAMA, March 20). In a previous study with fewer participants, scientists used the test to differentiate Parkinson’s from multiple system atrophy (Neurology, 2023).
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