Pub Date : 2025-01-01DOI: 10.1016/j.nrleng.2022.10.001
M. Menéndez-González , A. García-Martínez , I. Fernández-Vega , A. Pitiot , V. Álvarez
Introduction
The variant c.1414-1G>T in the GRN gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent.
Methods
We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings.
Results
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. Ex vivo splicing assays confirmed that the mutation c.1414-1G>T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11.
Conclusions
We conclude that variant c.1414-1G>T of the GRN gene is pathogenic, can lead to a variety of clinical presentations and to gene dosage effect, and probably has a Spanish founder effect.
{"title":"A variant in GRN of Spanish origin presenting with heterogeneous phenotypes","authors":"M. Menéndez-González , A. García-Martínez , I. Fernández-Vega , A. Pitiot , 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>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>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>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}
Pub Date : 2025-01-01DOI: 10.1016/j.nrleng.2022.09.006
N. Montagut , S. Borrego-Écija , J. Herrero , A. Lladó , M. Balasa , E. Muñoz , F. Valldeoriola , R. Sánchez-Valle
Introduction
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.
Methods
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.
Results
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 (P < .029).
Conclusions
The Barcelona scale for buccophonatory apraxia could be useful to quantitatively evaluate buccophonatory apraxia in different neurodegenerative diseases, and compare patients, especially in nfvPPA.
{"title":"Barcelona scale for buccophonatory apraxia: Quantitative assessment tool","authors":"N. Montagut , S. Borrego-Écija , J. Herrero , A. Lladó , M. Balasa , E. Muñoz , F. Valldeoriola , 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> < .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}
Pub Date : 2025-01-01DOI: 10.1016/j.nrleng.2022.07.004
O. Mirmosayyeb , V. Shaygannejad , N. Ebrahimi , H. Ghoshouni , M. Ghajarzadeh
Objective
To estimate the pooled prevalence of cancer in patients with multiple sclerosis (MS) cases who were under treatment with rituximab.
Methods
We searched PubMed, Scopus, EMBASE, Web of Science, and google scholar along with gray literature up to April 2021.
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").
Results
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.
The pooled prevalence of cancer in MS patients under treatment with rituximab is 1in 100,000 (I2 = 99.9%, p < 0.001).
Conclusion
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.
{"title":"The prevalence of cancer in patients with multiple sclerosis (MS) who received rituximab: a systematic review and meta-analysis","authors":"O. Mirmosayyeb , V. Shaygannejad , N. Ebrahimi , H. Ghoshouni , 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 < 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}
Pub Date : 2024-11-01DOI: 10.1016/j.nrleng.2024.10.001
D. García-Azorín , E. Lázaro , D. Ezpeleta , R. Lecumberri , R. de la Cámara , M. Castellanos , C. Iñiguez Martínez , L. Quiroga-González , G. Elizondo Rivas , A. Sancho-López , P. Rayón Iglesias , E. Segovia , C. Mejías , D. Montero Corominas
Background
We describe the epidemiological and clinical characteristics of thrombosis with thrombocytopenia syndrome (TTS) cases reported in Spain.
Methods
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.
Results
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 > 2000 ng/mL. Patients had thromboses affecting multiple locations in 36% of cases and fatal outcomea in 24%. Platelet nadir < 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.
Conclusion
TTS must be suspected in patients with symptoms 10 days after vaccination and thrombocytopenia and/or elevated D-dimer levels.
{"title":"Thrombosis with thrombocytopenia syndrome following adenovirus vector-based vaccines to prevent COVID-19: Epidemiology and clinical presentation in Spain","authors":"D. García-Azorín , E. Lázaro , D. Ezpeleta , R. Lecumberri , R. de la Cámara , M. Castellanos , C. Iñiguez Martínez , L. Quiroga-González , G. Elizondo Rivas , A. Sancho-López , P. Rayón Iglesias , E. Segovia , C. Mejías , 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 [Q<sub>1</sub>-Q<sub>3</sub>]) 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 > 2000 ng/mL. Patients had thromboses affecting multiple locations in 36% of cases and fatal outcomea in 24%. Platelet nadir < 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}
Pub Date : 2024-11-01DOI: 10.1016/j.nrleng.2022.07.001
Ritwik Ghosh , Arpan Mandal , Moisés León-Ruiz , Dipayan Roy , Shambaditya Das , Souvik Dubey , Julián Benito-León
Introduction
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.
Methods
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.
Results
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.
Conclusion
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.
{"title":"Rare neurological and neuropsychiatric manifestations of scrub typhus: a case series of 10 cases","authors":"Ritwik Ghosh , Arpan Mandal , Moisés León-Ruiz , Dipayan Roy , Shambaditya Das , Souvik Dubey , 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}
Pub Date : 2024-11-01DOI: 10.1016/j.nrleng.2022.05.002
A. Puig-Pijoan , G. García-Escobar , A. Fernández-Lebrero , R.M. Manero-Borràs , G. Sánchez-Benavides , I. Navalpotro-Gómez , D. Cascales Lahoz , M. Suárez-Calvet , O. Grau-Rivera , A. Boltes Alandí , M.C. Pont-Sunyer , J. Ortiz-Gil , S. Carrillo-Molina , D. López-Villegas , M.T. Abellán-Vidal , M.I. Martínez-Casamitjana , J.J. Hernández-Sánchez , J. Peña-Casanova , J. Roquer , A. Padrós Fluvià , V. Puente-Périz
Introduction
The analysis of the core 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 core 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).
Methods
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.
Results
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).
Conclusions
The determination of cut-off points of core 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.
{"title":"The CORCOBIA study: Cut-off points of Alzheimer’s disease CSF biomarkers in a clinical cohort","authors":"A. Puig-Pijoan , G. García-Escobar , A. Fernández-Lebrero , R.M. Manero-Borràs , G. Sánchez-Benavides , I. Navalpotro-Gómez , D. Cascales Lahoz , M. Suárez-Calvet , O. Grau-Rivera , A. Boltes Alandí , M.C. Pont-Sunyer , J. Ortiz-Gil , S. Carrillo-Molina , D. López-Villegas , M.T. Abellán-Vidal , M.I. Martínez-Casamitjana , J.J. Hernández-Sánchez , J. Peña-Casanova , J. Roquer , A. Padrós Fluvià , 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}
Pub Date : 2024-11-01DOI: 10.1016/j.nrleng.2022.06.003
Y. Broche-Pérez , R.M. Jiménez-Morales , L.O. Monasterio-Ramos , L.A. Vázquez-Gómez , Z. Fernández-Fleites
Introduction
Relapses are a hallmark of multiple sclerosis, being a characteristic feature of relapsing-remitting multiple sclerosis (RRMS). The occurrence of a relapse constitutes a source of significant discomfort that impacts all domains of daily life of patients with multiple sclerosis (PwMS). In this study we first explored the psychometric properties of the Spanish version of the Fear of Relapse Scale (FoR) in a sample of patients with RRMS. Besides, we explored the relationship between the Fear of Relapse Scale with fatigue and cognitive perceived deficits in our PwMS sample.
Methods
An online cross-sectional survey was conducted on 173 MS patients from 12 Spanish-speaking countries (Argentina, Mexico, Uruguay, Dominican Republic, Spain, Cuba, Colombia, Guatemala, Chile, Paraguay, Peru, and El Salvador). Confirmatory factor analysis (CFA) was performed to assess the factor structure of the scale. Multiple linear regression was used to evaluate the effects of health self-perception, fatigue, and perceived cognitive deficits over fear of relapse.
Results
The three-factor model in the CFA yielded a good model fit (χ2/df = 2.25, P < .001, RMSEA = .078, CFI = .91). McDonalds’ Omega of the FoR (Spanish version) was .91. There was a statistically significant inverse correlation between FoR and health self-perception, and a positive correlation between FoR, fatigue, and perceived cognitive deficits. Finally, level of fatigue was a predictor of fear of relapse.
Conclusions
The Spanish version of the Fear of Relapse Scale is a valid and reliable instrument to explore the experience of fear of relapse in patients with RRMS.
{"title":"Fear of Relapse Scale: Spanish version and psychometric characteristics in a sample of patients with Relapsing-Remitting multiple sclerosis","authors":"Y. Broche-Pérez , R.M. Jiménez-Morales , L.O. Monasterio-Ramos , L.A. Vázquez-Gómez , Z. Fernández-Fleites","doi":"10.1016/j.nrleng.2022.06.003","DOIUrl":"10.1016/j.nrleng.2022.06.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Relapses are a hallmark of multiple sclerosis, being a characteristic feature of relapsing-remitting multiple sclerosis (RRMS). The occurrence of a relapse constitutes a source of significant discomfort that impacts all domains of daily life of patients with multiple sclerosis (PwMS). In this study we first explored the psychometric properties of the Spanish version of the Fear of Relapse Scale (FoR) in a sample of patients with RRMS. Besides, we explored the relationship between the Fear of Relapse Scale with fatigue and cognitive perceived deficits in our PwMS sample.</div></div><div><h3>Methods</h3><div>An online cross-sectional survey was conducted on 173 MS patients from 12 Spanish-speaking countries (Argentina, Mexico, Uruguay, Dominican Republic, Spain, Cuba, Colombia, Guatemala, Chile, Paraguay, Peru, and El Salvador). Confirmatory factor analysis (CFA) was performed to assess the factor structure of the scale. Multiple linear regression was used to evaluate the effects of health self-perception, fatigue, and perceived cognitive deficits over fear of relapse.</div></div><div><h3>Results</h3><div>The three-factor model in the CFA yielded a good model fit (<em>χ</em><sup>2</sup><em>/df</em> = 2.25, <em>P</em> < .001, RMSEA = .078, CFI = .91). McDonalds’ Omega of the FoR (Spanish version) was .91. There was a statistically significant inverse correlation between FoR and health self-perception, and a positive correlation between FoR, fatigue, and perceived cognitive deficits. Finally, level of fatigue was a predictor of fear of relapse.</div></div><div><h3>Conclusions</h3><div>The Spanish version of the Fear of Relapse Scale is a valid and reliable instrument to explore the experience of fear of relapse in patients with RRMS.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 749-755"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40565843","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}
Pub Date : 2024-11-01DOI: 10.1016/j.nrleng.2023.06.001
E. Fernández-Bermejo , Á. Planchuelo-Gómez , S. Quintas , A. Gonzalez-Martinez , D. García-Azorín , Á. Sierra-Mencía , Á.L. Guerrero , S. Santos-Lasaosa , M. Pilar Navarro-Pérez , N. González-García , J. Díaz-de-Terán , A.B. Gago-Veiga
Background
Despite the number of research studies regarding the individual burden of migraine, few studies have examined its impact on the patients’ partners. We aim to assess migraine effects on the patients’ partners on sentimental relationship, children relationship, friendship, and work, as well as the caregiver burden, anxiety and/or depression.
Methods
A cross-sectional observational study was conducted through an online survey of partners of patients with migraine followed-up in 5 Headache Units. Questions about the 4 areas of interest and 2 scales (Hospital Anxiety and Depression Scale and Zarit scale) were included. Scores were compared against the population prevalence.
Results
One hundred and fifty-five answers were analysed. Among the patient’s partners 135/155 (87.1%) were men, with a mean age of 45.6 ± 10.1 years. Migraine’s main effects on partners were observed in the sentimental relationship and items concerning children and friendships, with a minor impact at work. Partners showed a moderate burden (12/155 = 7.7% [4.1%–13.1%]), and a higher moderate-severe anxiety rate (23/155 = 14.8% [9.6%–21.4%]), and similar depression rate (5/155 = 3.2% [1.1%–7.3%]) compared to the National Health Survey.
Conclusions
The burden of migraine impacts the partners’ personal relationship, childcare, friendship and work. Moreover, certain migraine partners showed a moderate burden according to Zarit scale and higher anxiety levels than the Spanish population.
{"title":"Evaluation of the burden of migraine on the partner’s lifestyle","authors":"E. Fernández-Bermejo , Á. Planchuelo-Gómez , S. Quintas , A. Gonzalez-Martinez , D. García-Azorín , Á. Sierra-Mencía , Á.L. Guerrero , S. Santos-Lasaosa , M. Pilar Navarro-Pérez , N. González-García , J. Díaz-de-Terán , A.B. Gago-Veiga","doi":"10.1016/j.nrleng.2023.06.001","DOIUrl":"10.1016/j.nrleng.2023.06.001","url":null,"abstract":"<div><h3>Background</h3><div>Despite the number of research studies regarding the individual burden of migraine, few studies have examined its impact on the patients’ partners. We aim to assess migraine effects on the patients’ partners on sentimental relationship, children relationship, friendship, and work, as well as the caregiver burden, anxiety and/or depression.</div></div><div><h3>Methods</h3><div>A cross-sectional observational study was conducted through an online survey of partners of patients with migraine followed-up in 5 Headache Units. Questions about the 4 areas of interest and 2 scales (Hospital Anxiety and Depression Scale and Zarit scale) were included. Scores were compared against the population prevalence.</div></div><div><h3>Results</h3><div>One hundred and fifty-five answers were analysed. Among the patient’s partners 135/155 (87.1%) were men, with a mean age of 45.6 ± 10.1 years. Migraine’s main effects on partners were observed in the sentimental relationship and items concerning children and friendships, with a minor impact at work. Partners showed a moderate burden (12/155 = 7.7% [4.1%–13.1%]), and a higher moderate-severe anxiety rate (23/155 = 14.8% [9.6%–21.4%]), and similar depression rate (5/155 = 3.2% [1.1%–7.3%]) compared to the National Health Survey.</div></div><div><h3>Conclusions</h3><div>The burden of migraine impacts the partners’ personal relationship, childcare, friendship and work. Moreover, certain migraine partners showed a moderate burden according to Zarit scale and higher anxiety levels than the Spanish population.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 810-819"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9888723","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}