A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD.
Rocco LiguoriVincenzo DonadioZ WangA IncensiG RizzoE AntelmiFrancesco BiscariniF PizzaWq ZouG PlazziPublished in: NPJ Parkinson's disease (2023)
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.
Keyphrases
- soft tissue
- cerebrospinal fluid
- wound healing
- end stage renal disease
- high throughput
- randomized controlled trial
- ultrasound guided
- newly diagnosed
- peritoneal dialysis
- depressive symptoms
- study protocol
- machine learning
- electronic health record
- clinical trial
- patient reported outcomes
- nucleic acid
- sleep quality
- artificial intelligence
- deep learning
- data analysis
- placebo controlled
- double blind
- label free