Al-Qassabi and colleagues recently published a study in Movement Disorders that examined whether 3-mm skin punch biopsies could be used to detect synuclein pathology in patients with REM sleep behavior disorder (RBD).
RBD is considered a prodromal illness that has a high likelihood of leading to other diseases that are associated with abnormal synuclein deposition, including Parkinson’s disease, dementia with Lewy bodies, and multiple system atrophy. A diagnosis of RBD may therefore prompt clinicians and patients to monitor for early signs and symptoms of other synucleinopathies, which may allow for early detection and intervention, and in the future, even prevention.
The study found that 82% of patients with RBD had abnormal synuclein deposition in their cutaneous nerves, detected through skin biopsies and a complex system of dual immunohistochemical staining. This staining was not seen in any of the healthy control subjects. After a 3-year follow up, 35% of the patients with documented synuclein pathology phenoconverted to a defined neurodegenerative disorder compared to none of the controls.
The authors conclude that skin biopsy analysis for pathological alpha-synuclein holds promise for diagnosing clinical and prodromal synuclein disorders like Parkinson’s disease.
Read the abstract at https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.28399