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http://hdl.handle.net/2445/181377
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DC Field | Value | Language |
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dc.contributor.author | Garrido, Alicia | - |
dc.contributor.author | Fairfoul, Graham | - |
dc.contributor.author | Tolosa, Eduardo | - |
dc.contributor.author | Martí Domènech, Ma. Josep | - |
dc.contributor.author | Green, Alison | - |
dc.contributor.author | Ávila Rivera, Maria Asunción | - |
dc.contributor.author | Barcelona LRRK2 Study Group | - |
dc.date.accessioned | 2021-11-19T14:41:50Z | - |
dc.date.available | 2021-11-19T14:41:50Z | - |
dc.date.issued | 2019-06-01 | - |
dc.identifier.issn | 2328-9503 | - |
dc.identifier.uri | http://hdl.handle.net/2445/181377 | - |
dc.description.abstract | Background: leucine-rich kinase 2 (LRRK2)-linked Parkinson's disease (PD) is clinically indistinguishable from idiopathic PD (IPD). A pleiotropic neuropathology has been recognized but the majority of studies in LRRK2 p.G2019S patients reveal Lewy-type synucleinopathy as its principal histological substrate. To date no in vivo biomarkers of synucleinopathy have been found in LRRK2 mutation carriers. Objectives: we used real-time quaking-induced conversion (RT-QuIC) technique to assess the presence of alpha-synuclein (a-syn) aggregates in cerebrospinal fluid (CSF) of LRRK2 p.G2019S carriers. Methods: CSF samples of 51 subjects were analyzed: 15 LRRK2 p.G2019S PD, 10 IPD, 16 LRRK2 p.G2019S nonmanifesting carriers (NMC) and 10 healthy controls. The presence of parkinsonism and prodromal symptoms was assessed in all study subjects. Results: forty percent (n = 6) LRRK2-PD, and 18.8% (n = 3) LRRK2-NMC had a positive a-syn RT-QuIC response. RT-QuIC detected IPD with 90% sensitivity and 80% specificity. No clinical differences were detected between LRRK2-PD patients with positive and negative RT-QuIC. A positive RT-QuIC result in LRRK2-NMC occurred in a higher proportion of subjects meeting the Movement Disorder Society research criteria for prodromal PD. Interpretation: RT-QuIC detects a-syn aggregation in CSF in a significant number of patients with LRRK2-PD, but less frequently than in IPD. A small percentage of LRRK2-NMC tested also positive. If appropriately validated in long-term studies with large number of mutation carriers, and hopefully, postmortem or in vivo confirmation of histopathology, RT-QuIC could contribute to the selection of candidates to receive disease modifying drugs, in particular treatments targeting a-syn deposition. | - |
dc.format.extent | 9 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | American Neurological Association | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1002/acn3.772 | - |
dc.relation.ispartof | Annals of Clinical and Translational Neurology, 2019, vol. 6, num. 6, p. 1024-1032 | - |
dc.relation.uri | https://doi.org/10.1002/acn3.772 | - |
dc.rights | cc-by-nc-nd (c) Garrido, Alicia et al., 2019 | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/4.0/ | - |
dc.source | Articles publicats en revistes (Medicina) | - |
dc.subject.classification | Proteïnes quinases | - |
dc.subject.classification | Malaltia de Parkinson | - |
dc.subject.classification | Líquid cefalorraquidi | - |
dc.subject.other | Protein kinases | - |
dc.subject.other | Parkinson's disease | - |
dc.subject.other | Cerebrospinal fluid | - |
dc.title | α-synuclein RT-QuIC in cerebrospinal fluid of LRRK2-linked Parkinson's disease | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 713287 | - |
dc.date.updated | 2021-11-19T14:41:50Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 31211166 | - |
Appears in Collections: | Articles publicats en revistes (Medicina) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) |
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