A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD

To compare for the first time the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplification assay (aSyn-SAA) of skin and cerebrospinal fluid (CSF) in disclosing pathological α-syn in idiopathic idiopathic REM sleep behavior disorder (iRBD) as early phase of a synucleinopathy. 

We prospectively recruited 41 patients with iRBD and 40 matched clinical controls including RBD associated with type 1 Narcolepsy (RBD-NT1, 21 patients), iatrogenic causes (2 pt) or OSAS (6 pt) and 11 patients with peripheral neuropathies.IF from samples taken by skin biopsy and aSyn-SAA from skin and CSF samples were analysed blinded to the clinical diagnosis. 

IF showed a good diagnostic accuracy (89%) that was lower in the case of skin and CSF-based aSyn-SAA (70% and 69% respectively) because of a lower sensitivity and specificity. However, IF showed a significant agreement with CSF aSyn-SAA.

In conclusion our data may favour the use of skin biopsy and aSyn-SAA as diagnostic tools for a synucleinopathy in iRBD.