α‐Synuclein RT‐QuIC assay in cerebrospinal fluid of patients with dementia with Lewy bodies

We applied RT‐QuIC assay to detect α‐synuclein aggregates in cerebrospinal fluid (CSF) of patients with suspected Creutzfeldt–Jakob disease who had a neuropathological diagnosis of dementia with Lewy bodies (DLB) (n = 7), other neurodegenerative diseases with α‐synuclein mixed pathology (n = 20), or...

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Published inAnnals of clinical and translational neurology Vol. 6; no. 10; pp. 2120 - 2126
Main Authors Bongianni, Matilde, Ladogana, Anna, Capaldi, Stefano, Klotz, Sigrid, Baiardi, Simone, Cagnin, Annachiara, Perra, Daniela, Fiorini, Michele, Poleggi, Anna, Legname, Giuseppe, Cattaruzza, Tatiana, Janes, Francesco, Tabaton, Massimo, Ghetti, Bernardino, Monaco, Salvatore, Kovacs, Gabor G., Parchi, Piero, Pocchiari, Maurizio, Zanusso, Gianluigi
Format Journal Article
LanguageEnglish
Published United States John Wiley & Sons, Inc 01.10.2019
John Wiley and Sons Inc
Wiley
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Summary:We applied RT‐QuIC assay to detect α‐synuclein aggregates in cerebrospinal fluid (CSF) of patients with suspected Creutzfeldt–Jakob disease who had a neuropathological diagnosis of dementia with Lewy bodies (DLB) (n = 7), other neurodegenerative diseases with α‐synuclein mixed pathology (n = 20), or without Lewy‐related pathology (n = 49). The test had a sensitivity of 92.9% and specificity of 95.9% in distinguishing α‐synucleinopathies from non‐α‐synucleinopathies. When performed in the CSF of patients with DLB (n = 36), RT‐QuIC was positive in 17/20 with probable DLB, 0/6 with possible DLB, and 0/10 with Alzheimer disease. These results indicate that RT‐QuIC for α‐synuclein is an accurate test for DLB diagnosis.
Bibliography:Funding information
This work was partially supported by the Ministero della Salute, Italy, for the national surveillance of Creutzfeldt‐Jakob disease and by Ministero della Salute RF‐2013‐02354884 and GR‐2013‐02355724 “Development of an assay detecting prions in animals and humans affected with prion disorders in a preclinical and clinical stage” to MP and GZ; Veneto Region Finalized Research 2014. RP‐2014‐00000400 “Experimental Study of a Clinical Network for Diagnosing Rapidly Progressive Dementias” to AC and SM; Dr. Ghetti was supported by the Department of Pathology and Laboratory Medicine and by the grant PHS NIA P30 AG010133.
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ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.50897