Annals of Clinical and Translational Neurology最新文献

{"title":"Psoriasis and dementia: A population-based matched cohort study of adults in England","authors":"Julian Matthewman,&nbsp;Kathryn E. Mansfield,&nbsp;Sharon L. Cadogan,&nbsp;Katrina Abuabara,&nbsp;Catherine Smith,&nbsp;Krishnan Bhaskaran,&nbsp;Sinéad M. Langan,&nbsp;Charlotte Warren-Gash","doi":"10.1002/acn3.52283","DOIUrl":"10.1002/acn3.52283","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Evidence for an association between psoriasis and dementia is limited and conflicting. We aimed to investigate the association using large and representative population-based data and describe risk by dementia subtype and over time.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We compared dementia risk between people with and without psoriasis using an age-, sex- and primary care practice-matched cohort of adults aged ≥40 years from the Clinical Practice Research Datalink Aurum in England (1997–2021) linked to hospital admissions data, analysed with stratified Cox regression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 360,014 individuals with psoriasis and 1,799,617 without, psoriasis was associated with a small increased risk of all-cause dementia (adjusted hazard ratio [aHR] 1.06, 95% CI 1.04–1.08; absolute rate difference 24 per 100,000 person-years). Strength of association increased with time since psoriasis diagnosis (e.g. aHR 0.99, 0.96–1.03 within 0 to 5 years; 1.20, 1.05–1.37 within 20 to 25 years). The association was stronger for vascular dementia (aHR 1.10, 1.06–1.14) than Alzheimer's dementia (aHR 1.03, 1.00–1.06). Hazard ratios were larger for severe psoriasis (all-cause aHR 1.32, 1.25–1.39; vascular aHR 1.58, 1.44–1.74; Alzheimer's aHR 1.11, 1.02–1.21).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Long-term risk of all-cause dementia and vascular dementia, but not Alzheimer's dementia, was slightly higher in people with psoriasis, but absolute risk differences were small. Risks were more substantially raised with time since psoriasis diagnosis and in severe psoriasis compared to mild to moderate psoriasis, suggesting a potential dose–response relationship.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"393-404"},"PeriodicalIF":4.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52283","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142913153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inflammatory disease in people with multiple sclerosis treated with immune checkpoint inhibitors","authors":"Saira Afzal,&nbsp;Yadi Li,&nbsp;Brittany Lapin,&nbsp;Le H. Hua,&nbsp;Lucy Boyce Kennedy,&nbsp;Wen Wee Ma,&nbsp;Marisa McGinley,&nbsp;Jeffrey A. Cohen,&nbsp;Amy Kunchok","doi":"10.1002/acn3.52287","DOIUrl":"10.1002/acn3.52287","url":null,"abstract":"<p>This study evaluated disease activity in people with Multiple Sclerosis (PwMS) who received immune checkpoint inhibitors (ICIs) compared to PwMS not treated with ICIs. There were 108 PwMS included (27 PwMS+ICIs and 81 PwMS controls), matched on age, sex, disease duration, DMTs, and MS disease course. Of 27 PwMS+ICIs, one (4%) had a relapse and four (15%) developed new MRI lesions without clinical symptoms. Time to relapse and MRI activity were compared using Kaplan–Meier curves and Cox regression models. There was no significant difference for either time to relapse (<i>p</i> = 0.34) or MRI activity (<i>p</i> = 0.15) in PwMS+ICIs compared to controls.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 3","pages":"643-647"},"PeriodicalIF":4.4,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52287","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142906456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Refractory myasthenia gravis treated with autologous hematopoietic stem cell transplantation","authors":"Benjamin Beland,&nbsp;Jan Storek,&nbsp;Liam Quartermain,&nbsp;Christopher Hahn,&nbsp;C. Elizabeth Pringle,&nbsp;Pierre R. Bourque,&nbsp;Michael Kennah,&nbsp;Natasha Kekre,&nbsp;Christopher Bredeson,&nbsp;David Allan,&nbsp;Kareem Jamani,&nbsp;Christopher White,&nbsp;Harold Atkins","doi":"10.1002/acn3.52246","DOIUrl":"10.1002/acn3.52246","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Patients with refractory myasthenia gravis (MG) have few treatment options. Autologous hematopoietic stem cell transplantation (HSCT) has been used to treat immune diseases; however, its use in the treatment of MG is not broadly considered. Our objective is to report on the efficacy and safety of HSCT in refractory MG.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Twenty-one patients who underwent HSCT for MG were retrospectively reviewed. All patients had severe MG refractory to multiple therapies. Stem cells were mobilized with cyclophosphamide and granulocyte colony-stimulating factor. The grafts were depleted of immune cells by selecting CD34+ cells. HSCT conditioning consisted of high-dose cytoreductive therapy and anti-thymocyte globulin. The primary efficacy outcome was achieving clinically stable remission or minimal manifestations without treatment and remaining as such until most recent follow-up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The median time from MG diagnosis to HSCT was 4.0 years. The primary outcome was reached in 16 of 18 evaluable patients (89%) at a median of 1.7 years and maintained with a median follow-up of 6.7 years (range 1.0–21.9 years). Three patients were not evaluable for the primary outcome: one due to confounding illness and two died within 12 months of transplant. The transplant-related mortality at 100 days was 9.5%. Two late deaths occurred, with uncertain relation to the HSCT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>After HSCT for refractory MG, most patients achieved sustained disease remission. However, HSCT-related mortality in medically complex MG patients may be high. Prospective studies investigating the efficacy and safety of HSCT in the treatment of refractory MG are warranted.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"56-68"},"PeriodicalIF":4.4,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142906458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient","authors":"Li Yang,&nbsp;Xingyu Wan,&nbsp;Ran Hua,&nbsp;Junhong Jiang,&nbsp;Baotian Wang,&nbsp;Rui Tao,&nbsp;De Wu","doi":"10.1002/acn3.52262","DOIUrl":"10.1002/acn3.52262","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Variants in the <i>GABRA2</i> gene, which encodes the α2 subunit of the γ-aminobutyric acid A receptor, have been linked to a rare form of developmental and epileptic encephalopathy (DEE) referred to as DEE78. Only eight patients have been reported globally. This study presents the clinical presentation and genetic analysis of a Chinese family with a child diagnosed with DEE78, due to a novel <i>GABRA2</i> variant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Genetic diagnosis was performed using trio-whole exome sequencing, followed by bioinformatics predictions of pathogenicity. Structural modeling assessed the potential impact of the variant. A mutant plasmid was constructed and transfected into 293 T cells. Western blotting (WB) was used to evaluate mutant protein expression, while co-immunoprecipitation (Co-IP) analyzed interactions with GABRB3 and GABRG2 proteins. Immunofluorescence (IF) assessed the subcellular localization of the mutant protein.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The 6-year-old male proband presented with seizures starting at age two, along with global developmental delay and hypotonia. Genetic testing revealed a heterozygous de novo variant in <i>GABRA2</i> gene (NM_000807: c.923C&gt;T, p.Ala308Val). Structural modeling suggested that this variant is located within the extracellular domain, which may disrupt hydrogen bonding interactions with GABRB3 and GABRG2. WB and Co-IP showed reduced protein expression and impaired interactions, potentially destabilizing the pentamer receptor complex. If analysis revealed that the variant did not affect subcellular localization.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study identified a novel likely pathogenic <i>GABRA2</i> extracellular domain variant in a Chinese family causing the DEE phenotype. The results expand the genotypic and phenotypic spectrum of <i>GABRA2</i>-related DEE.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"137-148"},"PeriodicalIF":4.4,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142906453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)—a case series","authors":"Alexandra K. Brooks,&nbsp;Vicente Quiroz,&nbsp;Luca Schierbaum,&nbsp;Amy Tam,&nbsp;Julian E. Alecu,&nbsp;Darius Ebrahimi-Fakhari","doi":"10.1002/acn3.52288","DOIUrl":"10.1002/acn3.52288","url":null,"abstract":"<p>Autosomal-dominant variants in the <i>CPT1C</i> gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of hereditary spastic paraplegia. However, we report two unrelated males with novel <i>CPT1C</i> variants (NM_001199753.2: patient 1: c.2057_2061del (p.Ile686SerfsTer8) and patient 2: c.2020-1G&gt;C (p.?)) who presented with lower limb spasticity at 4 and 3 years old, respectively. Both patients also experienced significant cognitive impairment, seizures, or neurobehavioral symptoms. These cases illustrate a broader and more complex clinical spectrum of SPG73, extending beyond the traditionally recognized pure motor symptoms.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 3","pages":"648-652"},"PeriodicalIF":4.4,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52288","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142906454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cortical lesions impact cognitive decline in multiple sclerosis via volume loss of nonlesional cortex","authors":"Eva A. Krijnen,&nbsp;Maureen van Dam,&nbsp;Albulena Bajrami,&nbsp;Piet M. Bouman,&nbsp;Samantha Noteboom,&nbsp;Frederik Barkhof,&nbsp;Bernard M.J. Uitdehaag,&nbsp;Martijn D. Steenwijk,&nbsp;Eric C. Klawiter,&nbsp;Ismail Koubiyr,&nbsp;Menno M. Schoonheim","doi":"10.1002/acn3.52261","DOIUrl":"10.1002/acn3.52261","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To assess the interrelationship between cortical lesions and cortical thinning and volume loss in people with multiple sclerosis within cortical networks, and how this relates to future cognition.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this longitudinal study, 230 people with multiple sclerosis and 60 healthy controls underwent 3 Tesla MRI at baseline and neuropsychological assessment at baseline and 5-year follow-up. Cortical regions (<i>N</i> = 212) were divided into seven functional networks. Regions were defined as either lesional or normal-appearing cortex based on presence of a cortical lesion on artificial intelligence-generated double inversion-recovery scans. Cortical volume and thickness were determined within lesional or normal-appearing cortex.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Prevalence of at least one cortical lesion was highest in the limbic (73%) followed by the default mode network (70.9%). Multiple sclerosis-related cortical thinning was more pronounced in lesional (mean <i>Z</i>-score = 0.70 ± 0.84) compared to normal-appearing cortex (−0.45 ± 0.60; <i>P</i> &lt; 0.001) in all, except sensorimotor, networks. Cognitive dysfunction, particularly of verbal memory, visuospatial memory, and inhibition, at follow-up was best predicted by baseline network volume of normal-appearing cortex of the default mode network [<i>B</i> (95% CI) = 0.31 (0.18; 0.43), <i>P</i> &lt; 0.001]. Mediation analysis showed that the effect of cortical lesions on future cognition was mediated by volume loss of the normal-appearing instead of lesional cortex, independent of white matter lesion volume.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Multiple sclerosis-related cortical thinning was worse in lesional compared to normal-appearing cortex, while volume loss of normal-appearing cortex was most predictive of subsequent cognitive decline, particularly in the default mode network. Mediation analyses indicate that cortical lesions impact cognitive decline plausibly by inducing atrophy, rather than through a direct effect.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"121-136"},"PeriodicalIF":4.4,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142890619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-world efficacy of transfusion with liberal or restrictive strategy in traumatic brain injury","authors":"Liang-Wen Cui,&nbsp;Nian Liu,&nbsp;Chao Yu,&nbsp;Ming Fang,&nbsp;Rui Huang,&nbsp;Cheng Zhang,&nbsp;Min Shao","doi":"10.1002/acn3.52272","DOIUrl":"10.1002/acn3.52272","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The short-term efficacy of red blood cell (RBC) transfusion among general traumatic brain injury (TBI) patients is unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used the MIMIC database to compare the efficacy of liberal (10 g/dL) versus conservative (7 g/dL) transfusion strategy in TBI patients. The outcomes were neurological progression (decrease of Glasgow coma scale (GCS) of at least 2 points) and death within 28 days of ICU admission. Each eligible individual was cloned and assigned each of the replicates to one of the treatment arm. The imbalance induced by informative censoring was adjusted by inverse probability weighting. The standardized, weighted pooled logistic regression with 500 bootstrap resampling was used to estimate the cumulative risk difference and 95% confidence interval (CI).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 1141 eligible individuals, 29.0% received RBC transfusion. Compared with the restrictive group, the liberal strategy reduced early death (3 days: 5%, 95% CI: 2%–7%; 7 days: 6%, 95% CI: 3%–11%); however, no significant difference of mortality risk at 28-day or neurological progression risk at any time points was observed. The risk of coagulopathy at 3 days was increased by 7% (95% CI: 1%–19%) in the liberal group. The subgroup analysis indicated a beneficial effect of liberal transfusion on mortality in hemodynamically unstable patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Compared with the restrictive strategy, the liberal strategy does not improve the short-term neurological prognosis and death among patients with TBI in a real-world situation. The liberal strategy may be beneficial to survival at very early stage or in hemodynamically unstable subgroup.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"203-212"},"PeriodicalIF":4.4,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142890628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ofatumumab treatment in new-onset narcolepsy type 1 following SARS-CoV-2 infection","authors":"Xiaoli Wang,&nbsp;Xinbo Zhang,&nbsp;Na Yuan,&nbsp;Yonghong Liu","doi":"10.1002/acn3.52284","DOIUrl":"10.1002/acn3.52284","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To explore the efficacy of ofatumumab in new onset narcolepsy type 1 following SARS-CoV-2 infection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We present a 9-year-old girl who experienced new onset narcolepsy type 1 following SARS-CoV-2 infection. Polysomnography (PSG) followed by a daytime multiple sleep latency test (MSLT) was under taken after admission. A lumbar puncture was performed to evaluate the CSF orexin-A level. We assessed the CSF hypocretin-1 concentration utilizing the RIA kit from Phoenix Pharmaceuticals Inc. HLA typing was performed. Furthermore, we treated the patient with subcutaneous injections of ofatumumab, and followed her for nearly six-month. The CSF orexin-A level, CD19+ and total B cell population were measured before and after treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The girl had experienced SARS-CoV-2 infection 4 months before presentation. After that, she started to experience excessive daytime sleepiness and cataplexy. She also began to experience nightmares and violent behaviors during her nocturnal sleep, which were not present before her SARS-CoV-2 infection. At the same time, she developed obesity and exhibited psychiatric symptoms such as agitation, anxiety, and aggression. MSLT showed a mean sleep latency of 2.7 min, and 5 times sleep onset REM periods. The CSF orexin-A level was pathologically low at 34.06 pg/mL, and she tested positive for HLA-DQB1*06:02. Consequently, a diagnosis of narcolepsy type 1 was confirmed. Before and after treatment with subcutaneous injections of ofatumumab, the CD19+ and total B cell population before treatment and after 1 months showed a significant reduction from 11% and 296 cells per microliter to 0.56% and 11 cells per microliter, respectively. Within a week following ofatumumab therapy, there was a marked improvement in both excessive daytime sleepiness and cataplexy. Notably, her cataplexy was almost entirely resolved following ofatumumab therapy. Her condition remained stable throughout the 9-month follow-up period. She could normally attend school.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The efficacy of ofatumumab in this case provides additional support for an autoimmune etiology in narcolepsy with cataplexy, highlighting the potential involvement of B-cells in its pathophysiology. This understanding will aid in the development of specific immunotherapeutic strategies for early implementation upon disease onset.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 3","pages":"666-669"},"PeriodicalIF":4.4,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52284","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142890624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Iatrogenic cerebral amyloid angiopathy and Alzheimer's disease co-pathology","authors":"Francisco Hernández-Fernández,&nbsp;Isabel Martínez-Fernández,&nbsp;Rosa Barbella-Aponte,&nbsp;Inmaculada Feria Vilar,&nbsp;Oscar Ayo-Martín,&nbsp;Jorge García-García,&nbsp;Rosa Collado,&nbsp;Alberto Andrés,&nbsp;Mar Hernández-Guillamón,&nbsp;Francisco José Pena Pardo,&nbsp;Cristina Barrena,&nbsp;Miguel de la Fuente,&nbsp;Gemma Serrano-Heras,&nbsp;María Melero,&nbsp;Elena Lozano Setién,&nbsp;Luis López,&nbsp;Tomás Segura","doi":"10.1002/acn3.52278","DOIUrl":"10.1002/acn3.52278","url":null,"abstract":"<p>Iatrogenic cerebral amyloid angiopathy, a disease caused by contact with neurosurgical material or human growth hormone contaminated by beta-amyloid peptide (Aβ), has a prion-like transmission mechanism. We present a series of three patients under 55 years of age who underwent cranial surgery. All of them developed multiple cerebral hemorrhages, transient focal neurological deficits, and/or cognitive impairment after 3–4 decades. MRI was compatible with CAA, and Aβ deposition was confirmed. The third patient, who had a ventriculoperitoneal valve, also showed Aβ deposition in the peritoneum and diagnostic biomarkers of Alzheimer's disease. Co-pathology with Alzheimer disease and its iatrogenic transmission should be considered.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"235-241"},"PeriodicalIF":4.4,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142890622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alpha-synuclein RT-QuIC assay in gastroduodenal and skin biopsies of Parkinson disease patients","authors":"Aron Emmi,&nbsp;Angela Mammana,&nbsp;Michele Sandre,&nbsp;Simone Baiardi,&nbsp;Luca Weis,&nbsp;Marcello Rossi,&nbsp;Franco Magliocchetti,&nbsp;Edoardo Savarino,&nbsp;Francesco Paolo Russo,&nbsp;Andrea Porzionato,&nbsp;Miryam Carecchio,&nbsp;Marta Campagnolo,&nbsp;Angelo Antonini,&nbsp;Piero Parchi","doi":"10.1002/acn3.52282","DOIUrl":"10.1002/acn3.52282","url":null,"abstract":"<p>In this study, we compared the value of pathological alpha-synuclein (αSyn) seed amplification assay (SAA) in gastric and duodenal biopsies with skin biopsies in Parkinson disease (PD) patients with different disease duration. The accuracy of αSyn SAA was 87.7% in skin, 67.4% in duodenum, and 80.0% in gastric biopsies, with significantly higher sensitivity in advanced PD (skin: 81.8%; gastric: 88.9%; duodenal 58.8%). Misfolded αSyn was detected with higher sensitivity in advanced PD across all matrices, likely reflecting the progression of αSyn pathology. The seeding activity was lower in the duodenal than in the gastric wall, indicating differences in αSyn burden.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 3","pages":"637-642"},"PeriodicalIF":4.4,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52282","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142870603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}