Neurology. Clinical practice最新文献

{"title":"<i>Candida Dublinensis</i> Meningitis in an Immunocompetent Host: A Case Report and Review of the Literature.","authors":"Asra Askari, Jemma Benson, Lucas Felipe Bastos Horta, Ali Daneshmand, Hormuzdiyar Dasenbrock, Anna M Cervantes-Arslanian","doi":"10.1212/CPJ.0000000000200279","DOIUrl":"10.1212/CPJ.0000000000200279","url":null,"abstract":"<p><strong>Objectives: </strong>This study presents a case of <i>Candida dubliniensis</i> meningitis in an immunocompetent injection drug user and provides a literature review of CNS infections related to <i>C dubliniensis</i>.</p><p><strong>Methods: </strong>A 32-year-old man with a history of opioid use disorder presented with seizures and underwent extensive diagnostic evaluations, including imaging, lumbar puncture, and tissue biopsies. Treatment consisted of antifungal therapy and placement of ventriculoperitoneal shunt (VPS).</p><p><strong>Results: </strong><i>C dublinensis</i> meningitis was identified on culture from a posterior fossa arachnoid sample. The patient demonstrated leptomeningeal enhancement on imaging, which resolved following 20 weeks of fluconazole. The development of hydrocephalus necessitated placement of VPS. Additional published cases of <i>C dublinensis</i> meningitis revealed varying presentations, diagnostic methods, and treatment regimens.</p><p><strong>Discussion: </strong><i>C dublinensis</i> meningitis is a rare condition affecting both immunocompromised and immunocompetent individuals, particularly those with intravenous drug use. The diagnosis can be challenging, often requiring repeat lumbar punctures, extensive CSF sampling, or meningeal biopsy. Treatment involves a combination of antifungal agents, such as amphotericin B and fluconazole. Intracranial hypertension and hydrocephalus may necessitate surgical intervention. In conclusion, <i>C dublinensis</i> meningitis should be considered as a potential etiology of meningitis, particularly in those with a history of injection drug use.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11129330/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141160224","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":"Extrapyramidal System/Symptoms/Signs Should Be Retired.","authors":"Abhishek Lenka, Joseph Jankovic","doi":"10.1212/CPJ.0000000000200308","DOIUrl":"10.1212/CPJ.0000000000200308","url":null,"abstract":"<p><p>The term \"extrapyramidal system/symptoms/signs\" and the acronym \"EPS\" have been abundantly used in neurology and psychiatry literature for more than a century. However, EPS has been increasingly criticized, especially by movement disorder neurologists, for its lack of clinical, anatomical, and physiologic definition. Contrary to traditional assumptions, pyramidal and extrapyramidal systems are not mutually exclusive. The acronym EPS, commonly used to denote drug-induced movement disorders, lacks specificity in conveying the nature and severity of these and other movement disorders. Consequently, we propose that the term is retired from scientific literature and that clinicians use specific phenomenologic descriptors for the various hypokinetc and hyperkinetic movement disorders.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11129327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141160442","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":"Subspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States.","authors":"Susan E Matesanz, Jonathan B Edelson, Katherine A Iacobellis, Erika Mejia, John F Brandsema, Carol A Wittlieb-Weber, Oluwatimilehin Okunowo, Heather Griffis, Kimberly Y Lin","doi":"10.1212/CPJ.0000000000200312","DOIUrl":"10.1212/CPJ.0000000000200312","url":null,"abstract":"<p><strong>Background and objectives: </strong>Standards of care exist to optimize outcomes in Duchenne and Becker muscular dystrophy (DBMD), caused by alterations in the DMD gene; however, there are limited data regarding health care access in these patients. This study aims to characterize outpatient subspecialty care utilization in pediatric patients with DBMD.</p><p><strong>Methods: </strong>This retrospective cohort study used administrative claims data from IBM MarketScan Medicaid and Commercial Claims and Encounters Research Databases (2013-2018). Male patients 1-18 years with an <i>ICD-9/10</i> diagnosis code for hereditary progressive muscular dystrophy between January 1, 2013, and December 31, 2017, were included. Participants were stratified into 3 age cohorts: 1-6 years, 7-12 years, and 13-18 years. The primary outcome was rate of annual neurology visits. Secondary outcomes included annual follow-up rates in other subspecialties and proportion of days covered (PDC) by corticosteroids.</p><p><strong>Results: </strong>A total of 1,386 patients met inclusion-347 (25.0%) age 1-6 years, 502 (36.2%) age 7-12 years, and 537 (38.7%) age 13-18 years. Heart failure, respiratory failure, and technology dependence increased with age (<i>p</i> for all<0.05). The rate of neurology visits per person-year was 0.36 and did not differ by age. Corticosteroid use was low; 30% of person-years (1452/4829) had a PDC ≥20%. Medicaid insurance was independently associated with a lower likelihood of annual neurology follow-up (OR 0.23; 95% CI 0.18-0.28).</p><p><strong>Discussion: </strong>The rate of annual neurology follow-up and corticosteroid use in patients with DBMD is low. Medicaid insurance status was independently associated with a decreased likelihood of neurology follow-up, while age was not, suggesting that factors other than disease severity influence neurology care access. Identifying barriers to regular follow-up is critical in improving outcomes for patients with DBMD.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11160481/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141296474","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":"Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.","authors":"Mary Schroth, Jennifer Deans, Kapil Arya, Diana Castro, Darryl C De Vivo, Melissa A Gibbons, Cristian Ionita, Nancy L Kuntz, Arpita Lakhotia, Erin Neil Knierbein, Mariacristina Scoto, Thomas Sejersen, Laurent Servais, Cuixia Tian, Megan A Waldrop, Juan F Vázquez-Costa","doi":"10.1212/CPJ.0000000000200310","DOIUrl":"10.1212/CPJ.0000000000200310","url":null,"abstract":"<p><strong>Background and objectives: </strong>Spinal muscular atrophy (SMA) is an autosomal recessive progressive neurodegenerative primary motor neuron disorder caused by biallelic variants of the survival motor neuron 1 (<i>SMN1</i>) gene. The most recent SMA best practice recommendations were published in 2018 shortly after the approval of the first SMN-enhancing treatment. The availability of disease-modifying therapies for 5q SMA and implementation of SMA newborn screening (NBS) has led to urgency to update the SMA best practice recommendations for diagnosis and to reevaluate the current classification of SMA. In addition, the availability of disease-modifying therapies has opened the door to explore improved diagnosis of adult-onset SMA.</p><p><strong>Methods: </strong>A systematic literature review was conducted on SMA NBS. An SMA working group of American and European health care providers developed recommendations through a modified Delphi technique with serial surveys and virtual meeting feedback on SMA diagnosis to fill information gaps for topics with limited evidence. A community working group of an individual with SMA and caregivers provided insight and perspective on SMA diagnosis and support through a virtual meeting to guide recommendations.</p><p><strong>Results: </strong>The health care provider working group achieved consensus that SMA NBS is essential to include in the updated best practice for SMA diagnosis (100%). Recommendations for the following are described: characterizing NBS-identified infants before treatment; minimum recommendations for starting or offering SMA NBS in a state or country; recommendations for activities and services to be provided by an SMA specialty care center accepting SMA NBS referrals; and recommendations for partnership with individuals with SMA and caregivers to support NBS-identified infants and their caregivers. Limited data are available to advance efficient diagnosis of adult-onset SMA.</p><p><strong>Discussion: </strong>Updating best practice recommendations for SMA diagnosis to include SMA NBS implementation is essential to advancing care for individuals with SMA. In addition to testing, processes for the efficient management of positive newborn screen with access to knowledgeable and skilled health care providers and access to treatment options is critical to successful early diagnosis. Additional evidence is required to improve adult-onset SMA diagnosis.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11195435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446629","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":"Sexual Orientation, Gender Identity, and Experiences During, Awareness of, and Attitudes Toward Research for People With Parkinson Disease.","authors":"Ece Bayram, Nicole Rigler, Kevin T Wang, Andrew Tsai, Jason D Flatt","doi":"10.1212/CPJ.0000000000200304","DOIUrl":"10.1212/CPJ.0000000000200304","url":null,"abstract":"<p><strong>Background and objectives: </strong>Presentation, progression, and treatment of Parkinson disease (PD) can differ based on sex and gender. However, knowledge on PD is limited by the characteristics of research participants, and most of the participants are men. In this study, we aimed to identify the attitudes toward and barriers to research participation for people with PD (PwP) based on their sexual orientation and gender identity.</p><p><strong>Methods: </strong>Data were obtained from the Fox Insight on March 16, 2023, for PwP who completed the <i>Attitudes and Beliefs Regarding Research and Genetic Testing for PD</i>. Responses were compared between sexual and gender minorities (SGM) (n = 136), cisgender heterosexual women (n = 1,479), and cisgender heterosexual men (n = 1,445). Associations between age, socioeconomic variables, and the responses that differed between the groups were assessed with linear models.</p><p><strong>Results: </strong>More than 68% of the participants were willing to participate in research; only 43.7% heard about research opportunities, and 52.3% knew where to find a study. Approximately 86.8% of the participants reported hearing about a study from their doctor would make them more likely to participate. A higher percentage of SGM were concerned about transportation and researchers not understanding or respecting their beliefs; a higher percentage of cisgender heterosexual women were concerned about transportation, data privacy, and their family's reaction to genetic results; and a higher percentage of cisgender heterosexual men were concerned about time required for research activities and complex forms. Age and socioeconomic variables were significantly associated with approach toward research that differed between the groups.</p><p><strong>Discussion: </strong>PwP are willing to participate in research, and health care providers can facilitate their participation. Barriers to research participation related to sexual and gender identity exist and must be addressed to increase our understanding of PD in underrepresented populations.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11129331/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141160697","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":"Enhancing Clinical Infrastructure for the Delivery of Intrathecal and Genetic Therapies: A Qalsody (Tofersen) Model for Patients With <i>SOD1</i>-ALS.","authors":"Jennifer Morganroth, Tanya M Bardakjian, Laynie Dratch, Colin C Quinn, Lauren B Elman","doi":"10.1212/CPJ.0000000000200303","DOIUrl":"10.1212/CPJ.0000000000200303","url":null,"abstract":"<p><strong>Background: </strong>Qalsody (tofersen), an intrathecal therapy (IT) antisense oligonucleotide (ASO), was granted accelerated approval by the Food and Drug Administration for the treatment of <i>SOD1</i>-mediated amyotrophic lateral sclerosis (ALS) on April 25, 2023. Academic centers need to be prepared for expedited drug delivery. The purpose of this model was to predict the number of <i>SOD1</i>-ALS patients whom we expect to see at our center at the time of Qalsody approval and to use it to extrapolate to a model for a hypothetical sporadic IT ALS therapy.</p><p><strong>Recent findings: </strong>We predicted that 6 symptomatic and 14 presymptomatic <i>SOD1</i> patients would come to our center, whereas a sporadic therapy would generate 108 patients, creating excess office visits, lumbar punctures, and genetic counseling visits.</p><p><strong>Implications for practice: </strong>As new therapies for neurologic diseases come to market, preparing for increased office volume and complex drug delivery are essential for optimal care.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141296423","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":"Patterns of Acute Ischemic Stroke Treatment from 2010 to 2020: An Evolving Landscape in Stroke Management Following Thrombectomy Trials.","authors":"Ahmed Elbayomy, Jason J Kim, Simon G Ammanuel, Daniel Traverzo, Sindhu Battula, Azam Ahmed","doi":"10.1212/CPJ.0000000000200297","DOIUrl":"10.1212/CPJ.0000000000200297","url":null,"abstract":"<p><strong>Background and objectives: </strong>Population-based studies on stroke can help guide the care of patients with acute ischemic stroke (AIS) by providing health care communities with information regarding the current usage of stroke treatments. It remains unclear how rapidly new techniques, particularly endovascular stroke treatment (EST), are being adopted and whether there is any disparity in their availability. Although studies using the National Inpatient Sample (NIS) have been conducted, updated studies over a longer period may provide further insights. This study aimed to understand patterns of AIS treatment, discharge disposition, in-hospital mortality, and mean length of stay (LOS) for each modality from 2010 to 2020 using the NIS database.</p><p><strong>Methods: </strong>This retrospective longitudinal study was conducted using NIS data from 2010 to 2020. Patients were categorized into groups based on whether they received intravenous recombinant tissue plasminogen activator (rt-PA), EST, both rt-PA and EST (combined therapy), or supportive care alone. Demographic, socioeconomic, regional, insurance, and hospital data were also obtained. The primary outcome was the proportion of patients receiving each modality, whereas the secondary outcomes were in-hospital mortality, mean LOS, and discharge disposition.</p><p><strong>Results: </strong>The usage rates increased (<i>p</i> < 0.001) in all groups between 2010 and 2020 (rt-PA: 5.09% to 8.39%, EST: 0.31% to 4.40%, and rt-PA+EST: 0.46% to 1.09%). The highest increase in usage was observed for EST, with a thirteen-fold increase. Mortality decreased from 2010 to 2020 in all groups (rt-PA: 8.45% to 3.54%, EST: 25.22% to 12.50%, and rt-PA+EST: 21.12% in 2010 to 9.30%) (<i>p</i> < 0.001). Combination therapy demonstrated the greatest improvement, with an 11.2% reduction in absolute mortality. Mean LOS was reduced for patients who received rt-PA (6.8 to 4.8 days), EST (9.3 to 8.9 days), and combined therapy (10.0 to 8.3 days) (<i>p</i> < 0.001) over the study period. The proportion of patients discharged to home increased for rt-PA (29.01% to 41.85%), EST (14.13% to 17.70%), and combined therapy (12.89% to 24.29%) (<i>p</i> < 0.001). Overall, stroke treatment usage was higher among the higher income groups, regardless of race. Higher usage was also observed for Whites in the West and Hispanic ethnicities in the South and West. Regardless of income or treatment method, utilization rates were lower for Black patients. Utilization rates were lower for Black patients with Medicare, Medicaid, or self-pay than for White patients.</p><p><strong>Discussion: </strong>Our study demonstrated that endovascular stroke treatment continues to expand, leading to better outcomes for mortality, LOS, and home discharge. Despite these positive patterns, there are visible inequities across regions, income status, and races.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140892205","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":"Feeding Difficulties and Gastrostomy in Dravet Syndrome: A UK-Wide Survey and 2-Center Experience.","authors":"Lisa M Clayton, Bahar Azadi, Claire Eldred, Galia Wilson, Robert Robinson, Sanjay M Sisodiya","doi":"10.1212/CPJ.0000000000200288","DOIUrl":"10.1212/CPJ.0000000000200288","url":null,"abstract":"<p><strong>Background and objectives: </strong>Dravet syndrome (DS) is one of the most common monogenic epilepsies. Alongside the core seizure and developmental phenotypes, problems with appetite, swallowing, and weight loss are frequently reported, necessitating gastrostomy in some. We explored the burden of feeding difficulties and need for gastrostomy across 3 DS populations in the United Kingdom. We document caregiver opinion and postgastrostomy outcomes, and provide guidance regarding feeding issues and gastrostomy in DS.</p><p><strong>Methods: </strong>A retrospective, observational study was conducted; data were collected from medical records of 124 individuals with DS attending clinics at the National Hospital for Neurology and Neurosurgery, and Great Ormond Street Hospital, and from 65 DS caregiver responses to a UK-wide survey.</p><p><strong>Results: </strong>In total, 64 of 124 (52%) had at least 1 feeding difficulty; 21 of 124 (17%) had a gastrostomy, and gastrostomy was being considered in 5%; the most common reasons for gastrostomy were poor appetite (81%) and weight loss/failure to gain weight (71%). Median age at gastrostomy was 17 years (range 2.5-59). Multivariate analyses identified several factors that in combination contributed to risk of feeding difficulties and gastrostomy, including treatment with several antiseizure medications (ASMs), of which stiripentol made a unique contribution to risk of gastrostomy (<i>p</i> = 0.048, odds ratio 3.20, 95% CI 1.01-10.16). Preinsertion, 88% of caregivers were worried about the gastrostomy, with concerns across a range of issues. Postgastrostomy, 88% of caregivers were happy that their child had the gastrostomy, and >90% agreed that the gastrostomy ensured medication compliance, that their child's overall health was better, and that quality of life improved.</p><p><strong>Discussion: </strong>Feeding difficulties are common in DS, and 17% require a gastrostomy to address these. Risk factors for feeding difficulties in DS are unknown, but ASMs may play a role. There is a high level of caregiver concern regarding gastrostomy preprocedure; however, postgastrostomy caregiver opinion is positive. Feeding difficulties should be proactively sought during review of people with DS, and the potential need for gastrostomy should be discussed.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11087032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912611","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":"Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report.","authors":"Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon Hakonarson, Sandra Mercier, Marni J Falk","doi":"10.1212/CPJ.0000000000200228","DOIUrl":"https://doi.org/10.1212/CPJ.0000000000200228","url":null,"abstract":"<p><strong>Objectives: </strong>Heterozygous missense variants in <i>MYBPC1</i> have been recently identified in 13 patients from 6 families with congenital myopathy with tremor. All the patients had mild skeletal myopathy invariably associated with a distinctive myogenic tremor and hypotonia with gradual clinical improvement. However, no phenotypic description has been reported for the neonatal respiratory impairment that patients may suffer.</p><p><strong>Methods: </strong>We report 3 new patients from 2 independent families with congenital myopathy with tremor.</p><p><strong>Results: </strong>Tremors and respiratory distress associated with stridor should raise the diagnosis of congenital myopathy with tremors linked to <i>MYBPC1</i>-dominant variants in children with neonatal hypotonia.</p><p><strong>Discussion: </strong>Neonatal severe respiratory impairment requiring intensive noninvasive ventilation because of stridor is described in 2 patients. Stridor was previously reported in one other case and is part of the clinical features.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11057435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140874744","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":"MRI-Derived AD Signature of Cortical Thinning and Plasma P-Tau217 for Predicting Alzheimer Dementia Among Community-Dwelling Older Adults.","authors":"Lei Yu, Tianhao Wang, Oskar Hansson, Shorena Janelidze, Melissa Lamar, Konstantinos Arfanakis, David A Bennett, Julie A Schneider, Patricia A Boyle","doi":"10.1212/CPJ.0000000000200291","DOIUrl":"10.1212/CPJ.0000000000200291","url":null,"abstract":"<p><strong>Background and objectives: </strong>Structural brain MRI and blood-based phosphorylated tau (p-tau) measures are among the least invasive and least expensive Alzheimer's disease (AD) biomarkers to date. The extent to which these biomarkers may outperform one another in predicting future Alzheimer dementia diagnosis is poorly understood, however. This study investigated 2 specific AD biomarkers, i.e., a cortical thickness signature of AD (AD-CT) and plasma p-tau217, for predicting Alzheimer dementia.</p><p><strong>Methods: </strong>Data came from community-dwelling older participants of the Religious Orders Study or the Rush Memory and Aging Project. AD-CT was obtained from 3T MRI scans using a magnetization-prepared rapid acquisition gradient echo sequence and by averaging thickness from previously identified cortical regions implicated in AD. Plasma p-tau217 was quantified using an immunoassay developed by Lilly Research Laboratories on the MSD platform. Both MRI scans and blood specimens were collected at the same visits, and subsequent diagnoses of Alzheimer dementia were determined through annual detailed clinical evaluations. Cox proportional hazards models examined the associations of the 2 biomarkers with incident Alzheimer dementia, and prediction accuracy was assessed using c-statistics.</p><p><strong>Results: </strong>A total of 198 older adults, on average 84 years of age, were included. Over a mean follow-up of 4 years, 60 (30%) individuals developed Alzheimer dementia. AD-CT (hazard ratio: 1.71, 95% CI 1.26-2.31) and separately plasma p-tau217 (hazard ratio: 2.57, 95% CI 1.83-3.61) were associated with incident Alzheimer dementia. The c-statistic for prediction accuracy was consistently higher for plasma p-tau217 (between 0.74 and 0.81) than AD-CT (between 0.70 and 0.75) across a range of time horizons. Furthermore, with both biomarkers included in the same model, there was only modest improvement in the c-statistic due to AD-CT.</p><p><strong>Discussion: </strong>Plasma p-tau217 outperforms an imaging-based cortical thickness signature of AD in predicting future Alzheimer dementia diagnosis. Furthermore, the AD cortical thickness signature adds little to the prediction accuracy above and beyond plasma p-tau217.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140892204","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}