On the Track of a-Synuclein in the Body Skin Biopsies for Diagnosing Synucleinopathies?

Multiple system atrophy (MSA) represents an aggressive form of synucleinopathy. While in Parkinson disease (PD), a-syn mainly accumulates within neurons, in MSA, the misfolded a-syn inclusions are mostly located in glial cells. At clinical onset, MSA represents one of the most challenging diagnoses in neurologic practice, even for experienced clinicians. Indeed, it is reported that the clinical diagnosis is not confirmed by subsequent neuropathologic studies in up to 40% of patients,(1) although it is worth highlighting that high percentages of misdiagnosis are also reported for PD.(2) Accordingly, there is a need for reliable biomarkers able to detect the presence of a synucleinopathy and to distinguish different synucleinopathies. This is crucial because disease-modifying treatments are available for some.

Automated summary

Multiple system atrophy (MSA) is an aggressive form of synucleinopathy, characterized by misfolded a-syn accumulations mainly in glial cells. Making a clinical diagnosis of MSA is challenging, even for experienced clinicians. Therefore, there is a need for reliable biomarkers to detect the presence and distinguish different synucleinopathies, as disease-modifying treatments are available for some.