To compare 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 favor the use of skin biopsy and aSyn-SAA as diagnostic tools for a synucleinopathy in iRBD.

Liguori R., Donadio V., Wang Z., Incensi A., Rizzo G., Antelmi E., et al. (2023). A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD. NPJ PARKINSON'S DISEASE, 9(1), 1-6 [10.1038/s41531-023-00473-5].

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

Liguori R.
;
Donadio V.
;
Biscarini F.;Pizza F.;
2023

Abstract

To compare 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 favor the use of skin biopsy and aSyn-SAA as diagnostic tools for a synucleinopathy in iRBD.
2023
Liguori R., Donadio V., Wang Z., Incensi A., Rizzo G., Antelmi E., et al. (2023). A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD. NPJ PARKINSON'S DISEASE, 9(1), 1-6 [10.1038/s41531-023-00473-5].
Liguori R.; Donadio V.; Wang Z.; Incensi A.; Rizzo G.; Antelmi E.; Biscarini F.; Pizza F.; Zou W.; Plazzi G.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/940701
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