A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD.
A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD.
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DOI：
10.1038/s41531-023-00473-5
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发表时间：
2023-03-04
期刊：
影响因子：
--
通讯作者：
Plazzi G
中科院分区：
文献类型：
--
作者：
Liguori R;Donadio V;Wang Z;Incensi A;Rizzo G;Antelmi E;Biscarini F;Pizza F;Zou W;Plazzi G
比较免疫荧光（IF）技术和aSyn-seed扩增试验（aSyn-SAA）对诊断特发性REM睡眠行为障碍（iRBD）中病理性α-syn的诊断准确性。我们前瞻性招募了41例iRBD患者和40例匹配的临床对照，包括与1型发作性睡病（RBD-NT 1，21例患者）、医源性原因（2例患者）或OSAS（6例患者）相关的RBD和11例周围神经病变患者。对来自通过皮肤活检采集的样品的IF和来自皮肤和CSF样品的aSyn-SAA进行分析，对临床诊断不知情。IF显示出良好的诊断准确性（89%），而在基于皮肤和CSF的aSyn-SAA的情况下（分别为70%和69%）较低，因为灵敏度和特异性较低。然而，IF显示与CSF aSyn-SAA显著一致。总之，我们的数据可能有利于使用皮肤活检和aSyn-SAA作为iRBD中突触核蛋白病的诊断工具。
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.
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影响因子：
14.5
作者：
Donadio, Vincenzo;Incensi, Alex;Liguori, Rocco
通讯作者：
Liguori, Rocco
影响因子：
9.9
作者：
Donadio, Vincenzo;Incensi, Alex;Liguori, Rocco
通讯作者：
Liguori, Rocco
影响因子：
6.7
作者：
GALLASSI, R;LENZI, P;MUSSUTO, V
通讯作者：
MUSSUTO, V
影响因子：
7.1
作者：
Groveman BR;Orrù CD;Hughson AG;Raymond LD;Zanusso G;Ghetti B;Campbell KJ;Safar J;Galasko D;Caughey B
通讯作者：
Caughey B
影响因子：
12.7
作者：
Doppler K;Jentschke HM;Schulmeyer L;Vadasz D;Janzen A;Luster M;Höffken H;Mayer G;Brumberg J;Booij J;Musacchio T;Klebe S;Sittig-Wiegand E;Volkmann J;Sommer C;Oertel WH
通讯作者：
Oertel WH