Neurologia最新文献

{"title":"The prevalence of sexual dysfunction and erectile dysfunction in men with multiple sclerosis: A systematic review and meta-analysis","authors":"V. Shaygannejad ,&nbsp;O. Mirmosayyeb ,&nbsp;S. Vaheb ,&nbsp;N. Nehzat ,&nbsp;M. Ghajarzadeh","doi":"10.1016/j.nrleng.2022.08.002","DOIUrl":"10.1016/j.nrleng.2022.08.002","url":null,"abstract":"<div><h3>Background</h3><div>The prevalence of sexual dysfunction (SD) in men with multiple sclerosis (MS) is reported variously in different studies. The most common form of SD in these patients is erectile dysfunction (ED). The goal of this systematic review and meta-analysis is to determine the pooled prevalence of SD and ED in men suffering from MS.</div></div><div><h3>Methods</h3><div>We searched PubMed, Scopus, EMBASE, CINAHL, Web of Science, and gray literature (references of references, and congress abstracts) up to 14th November 2020.</div></div><div><h3>Results</h3><div>We found 3163 studies by primary search, 2246 were included after deletion of duplicates. Finally, 29 studies were included for meta-analysis. A total of 3349 patients were evaluated. The pooled prevalence of SD was 66% (95% CI: 64%–69%). The pooled prevalence of erectile dysfunction was 49% (95% CI: 47%–50%).</div></div><div><h3>Conclusion</h3><div>Sexual dysfunction is a prevalent complication of MS in male patients which should be considered by clinicians.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 22-31"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40610758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis","authors":"U. Gomez-Pinedo ,&nbsp;J.A. Matías-Guiu ,&nbsp;L. Torre-Fuentes ,&nbsp;P. Montero-Escribano ,&nbsp;L. Hernández-Lorenzo ,&nbsp;V. Pytel ,&nbsp;P. Maietta ,&nbsp;S. Alvarez ,&nbsp;I. Sanclemente-Alamán ,&nbsp;L. Moreno-Jimenez ,&nbsp;D. Ojeda-Hernandez ,&nbsp;N. Villar-Gómez ,&nbsp;M.S. Benito-Martin ,&nbsp;B. Selma-Calvo ,&nbsp;L. Vidorreta-Ballesteros ,&nbsp;R. Madrid ,&nbsp;J. Matías-Guiu","doi":"10.1016/j.nrleng.2022.07.002","DOIUrl":"10.1016/j.nrleng.2022.07.002","url":null,"abstract":"<div><h3>Introduction</h3><div>Genomic studies have identified numerous genetic variants associated with susceptibility to multiple sclerosis (MS); however, each one explains only a small percentage of the risk of developing the disease. These variants are located in genes involved in specific pathways, which supports the hypothesis that the risk of developing MS may be linked to alterations in these pathways, rather than in specific genes. We analyzed the role of the <em>TNFRSF1A</em> gene, which encodes one of the TNF-α receptors involved in a signaling pathway previously linked to autoimmune disease.</div></div><div><h3>Methods</h3><div>We included 138 individuals from 23 families including at least 2 members with MS, and analyzed the presence of exonic variants of TNFRSF1A through whole-exome sequencing. We also conducted a functional study to analyze the pathogenic mechanism of variant rs4149584 (-g.6442643C &gt; G, NM_001065.4:c.362 G &gt; A, R92Q) by plasmid transfection into human oligodendroglioma (HOG) cells, which behave like oligodendrocyte lineage cells; protein labeling was used to locate the protein within cells. We also analyzed the ability of transfected HOG cells to proliferate and differentiate into oligodendrocytes.</div></div><div><h3>Results</h3><div>Variant rs4149584 was found in 2 patients with MS (3.85%), one patient with another autoimmune disease (7.6%), and in 5 unaffected individuals (7.46%). The 2 patients with MS and variant rs4149584 were homozygous carriers and belonged to the same family, whereas the remaining individuals presented the variant in heterozygosis. The study of HOG cells transfected with the mutation showed that the protein does not reach the cell membrane, but rather accumulates in the cytoplasm, particularly in the endoplasmic reticulum and near the nucleus; this suggests that, in the cells presenting the mutation, TNFRSF1 does not act as a transmembrane protein, which may alter its signaling pathway. The study of cell proliferation and differentiation found that transfected cells continue to be able to differentiate into oligodendrocytes and are probably still capable of producing myelin, although they present a lower rate of proliferation than wild-type cells.</div></div><div><h3>Conclusions</h3><div>Variant rs4149584 is associated with risk of developing MS. We analyzed its functional role in oligodendrocyte lineage cells and found an association with MS in homozygous carriers. However, the associated molecular alterations do not influence the differentiation into oligodendrocytes; we were therefore unable to confirm whether this variant alone is pathogenic in MS, at least in heterozygosis.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 10-21"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40608836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thrombus composition and its implication in ischemic stroke assessment and revascularization treatments","authors":"Juan Marta-Enguita ,&nbsp;Florencio J.D. Machado ,&nbsp;Josune Orbe ,&nbsp;Roberto Muñoz","doi":"10.1016/j.nrleng.2024.12.001","DOIUrl":"10.1016/j.nrleng.2024.12.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Since mechanical thrombectomy has allowed ischaemic stroke thrombus retrieval, the exhaustive study of this material has enabled better understanding of the potential physiopathological processes involved in thrombus formation.</div></div><div><h3>Development</h3><div>Thrombotic pathways involved in the different vascular beds share common mechanisms, causing difficulties in the identification of specific patterns associated with stroke aetiology. However, other factors such as clot formation time, associated inflammatory status, or activation of additional immune and coagulation pathways (neutrophil extracellular trap [NET] delivery, platelet aggregation, endothelial activation, and von Willebrand Factor release) have been described as determinants in thrombus characteristics. Thus, variable proportions of fibrin-/platelet-rich and erythrocyte-rich areas are closely interrelated within the thrombus, frequently associated with a protective outer shell with high concentrations of fibrin, NETs, and von Willebrand Factor. The presence of these components, as well as their distribution and interrelationships, have been shown to have effects on the thrombus’ resistance to revascularisation treatments. Understanding of these pathways has enabled the development of adjuvant therapies capable of enhancing current fibrinolytic drugs and/or increasing the efficacy of endovascular treatments.</div></div><div><h3>Conclusion</h3><div>Understanding of thrombus components and mechanisms involved in thrombus formation represent a potential pathway for the development of ischaemic stroke therapeutics with promising perspectives.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 77-88"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A variant in GRN of Spanish origin presenting with heterogeneous phenotypes","authors":"M. Menéndez-González ,&nbsp;A. García-Martínez ,&nbsp;I. Fernández-Vega ,&nbsp;A. Pitiot ,&nbsp;V. Álvarez","doi":"10.1016/j.nrleng.2022.10.001","DOIUrl":"10.1016/j.nrleng.2022.10.001","url":null,"abstract":"<div><h3>Introduction</h3><div>The variant c.1414-1G&gt;T in the <em>GRN</em> gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent.</div></div><div><h3>Methods</h3><div>We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings.</div></div><div><h3>Results</h3><div>Phenotypes were strikingly different, including cases presenting with behavioral variant frontotemporal dementia, semantic variant primary progressive aphasia, rapidly progressive motor neuron disease (pathologically documented), and tremor-dominant parkinsonism. Retinal degeneration has been found in homozygous carriers only. <em>Ex vivo</em> splicing assays confirmed that the mutation c.1414-1G&gt;T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11.</div></div><div><h3>Conclusions</h3><div>We conclude that variant c.1414-1G&gt;T of the <em>GRN</em> gene is pathogenic, can lead to a variety of clinical presentations and to gene dosage effect, and probably has a Spanish founder effect.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 57-65"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33497565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Barcelona scale for buccophonatory apraxia: Quantitative assessment tool","authors":"N. Montagut ,&nbsp;S. Borrego-Écija ,&nbsp;J. Herrero ,&nbsp;A. Lladó ,&nbsp;M. Balasa ,&nbsp;E. Muñoz ,&nbsp;F. Valldeoriola ,&nbsp;R. Sánchez-Valle","doi":"10.1016/j.nrleng.2022.09.006","DOIUrl":"10.1016/j.nrleng.2022.09.006","url":null,"abstract":"<div><h3>Introduction</h3><div>Currently there is no tool to quantify buccophonatory apraxia to stratify, compare and monitor patients longitudinally in an objective manner. Our aim in this study is to create a quantitative scale for buccophonatory apraxia and evaluate it in patients with the non-fluent/grammatical variant of primary progressive aphasia (nfvPPA) and other neurodegenerative diseases that occur with speech and/or language problems.</div></div><div><h3>Methods</h3><div>The scale was designed based on useful elements in the assessment of buccophonatory apraxia and the total was quantified in seconds. The scale was administered to 64 participants with diagnoses of: nfvPPA, semantic variant of primary progressive aphasia (svPPA), logopenic variant of primary progressive aphasia (lvPPA), Huntington’s disease, Parkinson’s disease, as well as a group of healthy controls.</div></div><div><h3>Results</h3><div>Patients showed a significantly higher score compared to controls. The nfvPPA group had the highest mean score on the scale (429 seconds ± 278). The scale was useful to differentiate vnfPPA from svPPA and Parkinson’s disease (area under curve [AUC] of 0.956 and 0.989, respectively), but less to differentiate it from Huntington’s disease (AUC = 0.67) and lvPPA. There was a statistically significant relationship between total score and disease severity in nfvPPA (<em>P</em> &lt; .029).</div></div><div><h3>Conclusions</h3><div>The Barcelona scale for buccophonatory apraxia could be useful to quantitatively evaluate buccophonatory apraxia in different neurodegenerative diseases, and compare patients, especially in nfvPPA.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 48-56"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40562452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome","authors":"L. Silva-Hernández ,&nbsp;B. Cabal-Paz ,&nbsp;J. Jiménez-Almonacid ,&nbsp;E. González-Vioque ,&nbsp;J. Bohm","doi":"10.1016/j.nrleng.2025.01.001","DOIUrl":"10.1016/j.nrleng.2025.01.001","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 89-91"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The prevalence of cancer in patients with multiple sclerosis (MS) who received rituximab: a systematic review and meta-analysis","authors":"O. Mirmosayyeb ,&nbsp;V. Shaygannejad ,&nbsp;N. Ebrahimi ,&nbsp;H. Ghoshouni ,&nbsp;M. Ghajarzadeh","doi":"10.1016/j.nrleng.2022.07.004","DOIUrl":"10.1016/j.nrleng.2022.07.004","url":null,"abstract":"<div><h3>Objective</h3><div>To estimate the pooled prevalence of cancer in patients with multiple sclerosis (MS) cases who were under treatment with rituximab.</div></div><div><h3>Methods</h3><div>We searched PubMed, Scopus, EMBASE, Web of Science, and google scholar along with gray literature up to April 2021.</div><div>The search strategy included the MeSH and text words as ((“CD20 Antibody” AND Rituximab) OR “Rituximab CD20 Antibody” OR Mabthera OR “IDEC-C2B8 Antibody” OR “IDEC C2B8 Antibody” OR IDEC-C2B8 OR “IDEC C2B8” OR GP2013 OR Rituxan OR rituximab) AND ((Sclerosis AND multiple) OR (sclerosis AND disseminated) OR \"disseminated sclerosis\" OR \"multiple sclerosis\" OR \"acute fulminating\").</div></div><div><h3>Results</h3><div>The literature search revealed 3577 articles, after deleting duplicates 2066 remained. For the meta-analysis, 22 studies were included. Totally, 15599 patients were enrolled while 133 cancers were detected.</div><div>The pooled prevalence of cancer in MS patients under treatment with rituximab is 1in 100,000 (I2 = 99.9%, p &lt; 0.001).</div></div><div><h3>Conclusion</h3><div>The results of this systematic review and meta-analysis show that the pooled prevalence of cancer in MS patients who received rituximab is 1 in 100,000 cases.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 41-47"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40342777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thrombosis with thrombocytopenia syndrome following adenovirus vector-based vaccines to prevent COVID-19: Epidemiology and clinical presentation in Spain","authors":"D. García-Azorín ,&nbsp;E. Lázaro ,&nbsp;D. Ezpeleta ,&nbsp;R. Lecumberri ,&nbsp;R. de la Cámara ,&nbsp;M. Castellanos ,&nbsp;C. Iñiguez Martínez ,&nbsp;L. Quiroga-González ,&nbsp;G. Elizondo Rivas ,&nbsp;A. Sancho-López ,&nbsp;P. Rayón Iglesias ,&nbsp;E. Segovia ,&nbsp;C. Mejías ,&nbsp;D. Montero Corominas","doi":"10.1016/j.nrleng.2024.10.001","DOIUrl":"10.1016/j.nrleng.2024.10.001","url":null,"abstract":"<div><h3>Background</h3><div>We describe the epidemiological and clinical characteristics of thrombosis with thrombocytopenia syndrome (TTS) cases reported in Spain.</div></div><div><h3>Methods</h3><div>We included all cases of venous or arterial thrombosis with thrombocytopenia following administration of adenoviral vector vaccines (AstraZeneca or Janssen) against COVID-19 disease between 1 February and 26 September 2021. We describe the crude rate and the standardised morbidity ratio. We assessed the predictors of mortality.</div></div><div><h3>Results</h3><div>Sixty-one cases were reported and 45 fulfilled eligibility criteria; 82% of patients were women. The crude TTS rate was 4 cases/1 000 000 doses, and 14-15 cases/1 000 000 doses among patients aged 30-49 years. The number of observed cases of cerebral venous thrombosis was 6-18 times higher than that expected in patients younger than 49 years. Symptoms started a median (quartiles 1 and 3 [Q₁-Q₃]) of 10 (7-14) days after vaccination. Eighty percent (95% confidence interval [CI]: 65%-90%) had thrombocytopenia at the time of the emergency department visit, and 65% (49%-78%) had D-dimer levels &gt; 2000 ng/mL. Patients had thromboses affecting multiple locations in 36% of cases and fatal outcomea in 24%. Platelet nadir &lt; 50 000/μL (odds ratio [OR]: 7.4; 95% CI: 1.2-47.5) and intracranial hemorrhage (OR: 7.9; 95% CI: 1.3-47.0) were associated with fatal outcomes.</div></div><div><h3>Conclusion</h3><div>TTS must be suspected in patients with symptoms 10 days after vaccination and thrombocytopenia and/or elevated D-dimer levels.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 721-732"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare neurological and neuropsychiatric manifestations of scrub typhus: a case series of 10 cases","authors":"Ritwik Ghosh ,&nbsp;Arpan Mandal ,&nbsp;Moisés León-Ruiz ,&nbsp;Dipayan Roy ,&nbsp;Shambaditya Das ,&nbsp;Souvik Dubey ,&nbsp;Julián Benito-León","doi":"10.1016/j.nrleng.2022.07.001","DOIUrl":"10.1016/j.nrleng.2022.07.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Scrub typhus is a potentially life-threatening but curable disease that can produce multi-organ failure. Neurological manifestations in scrub typhus have gained attention recently, where the entire neural axis except the myoneural junction can be involved. Although the pathogenesis of neurological involvement has not been established, immune-mediated mechanisms are suspected. This article reports the clinicopathological features of scrub typhus cases presenting several rare neurological and neuropsychiatric manifestations.</div></div><div><h3>Methods</h3><div>Three hundred fifty-four serologically confirmed scrub typhus cases were admitted to the Department of General Medicine of Burdwan Medical College and Hospital (West Bengal, India) between May 2018 and May 2022. There were 50 patients who had predominantly neurological manifestations. Of these 50 cases, ten patients presented with extremely rare neurological manifestations.</div></div><div><h3>Results</h3><div>We report 10 cases of scrub typhus (four men and six women) who presented with complex neurological pictures (posterior reversible encephalopathy syndrome, Opalski syndrome, parkinsonism, cerebellitis, isolated opsoclonus, acute transverse myelitis, myositis, polyradiculoneuropathy with cranial neuropathy, acute transient behavioral changes, and fibromyalgia). Immune-mediated mechanisms might have mediated the pathogenesis of most cases following scrub typhus infection.</div></div><div><h3>Conclusion</h3><div>From a clinicopathological point of view, each case was unique in its presentation and treatment response. In any acute onset neurological disorders associated with febrile illness in the tropics or subtropics, scrub typhus infection should be included in the differential diagnosis, despite the absence of eschar and unremarkable neuroimaging findings. This otherwise curable disease may result in multi-organ dysfunction syndrome and death if the diagnosis is delayed.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 766-780"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40565842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The CORCOBIA study: Cut-off points of Alzheimer’s disease CSF biomarkers in a clinical cohort","authors":"A. Puig-Pijoan ,&nbsp;G. García-Escobar ,&nbsp;A. Fernández-Lebrero ,&nbsp;R.M. Manero-Borràs ,&nbsp;G. Sánchez-Benavides ,&nbsp;I. Navalpotro-Gómez ,&nbsp;D. Cascales Lahoz ,&nbsp;M. Suárez-Calvet ,&nbsp;O. Grau-Rivera ,&nbsp;A. Boltes Alandí ,&nbsp;M.C. Pont-Sunyer ,&nbsp;J. Ortiz-Gil ,&nbsp;S. Carrillo-Molina ,&nbsp;D. López-Villegas ,&nbsp;M.T. Abellán-Vidal ,&nbsp;M.I. Martínez-Casamitjana ,&nbsp;J.J. Hernández-Sánchez ,&nbsp;J. Peña-Casanova ,&nbsp;J. Roquer ,&nbsp;A. Padrós Fluvià ,&nbsp;V. Puente-Périz","doi":"10.1016/j.nrleng.2022.05.002","DOIUrl":"10.1016/j.nrleng.2022.05.002","url":null,"abstract":"<div><h3>Introduction</h3><div>The analysis of the <em>core</em> biomarkers of Alzheimer’s Disease (AD) in the cerebrospinal fluid (CSF) is recommended in the clinical units where it is available. Because of the absence of universal validated values, the determination of specific cut-off points for each center and its population is recommended. The main objective of the CORCOBIA study was to determine the cut-off points of <em>core</em> AD CSF biomarkers for several centers (Parc de Salut Mar, Barcelona and Hospital General de Granollers), which work with the same reference laboratory (Laboratori de Referència de Catalunya).</div></div><div><h3>Methods</h3><div>Prospective study including cognitively unimpaired individuals (CU, n = 42), subjects with amnestic mild cognitive impairment (aMCI, n = 35) and patients with dementia due to Alzheimer’s Disease (AD, n = 48), in whom clinical and neuropsychological assessment, neuroimaging, APOE genotyping and lumbar puncture to analyse amyloid beta peptides (Aβ42, Aβ40), total tau (tTau) and phosphorylated Tau (pTau181) using the Lumipulse G600II (Fujirebio) was performed. The values of sensitivity (SE), specificity (SP), predictive values and area under the curve (AUC) were calculated, determining the cut-off point according to the Youden index by comparing the CU and AD groups.</div></div><div><h3>Results</h3><div>The resulting cut-offs and their AUC were the following: Aβ42 750 pg/mL (AUC 0.809); Aβ42/Aβ40 0.062 (AUC 0.78); pTau181 69.85 pg/mL (AUC 0.81); tTau 522.0 pg/mL (AUC 0.79); Aβ42/tTau 1.76 (AUC 0.86); Aβ42/pTau181 10.25 (AUC 0.86).</div></div><div><h3>Conclusions</h3><div>The determination of cut-off points of <em>core</em> AD CSF biomarkers for the participating centers allows a better diagnostic accuracy. The ratio CSF Aβ42/pTau181 shows the highest AUC and better balance between sensitivity and specificity.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 756-765"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40609675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}