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  • 1
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    Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy
    Springer Science and Business Media LLC ; 2020
    In:  Acta Neuropathologica Communications Vol. 8, No. 1 ( 2020-12)
    Details
    In: Acta Neuropathologica Communications, Springer Science and Business Media LLC, Vol. 8, No. 1 ( 2020-12)
    Abstract: Missense variants ABI3 _rs616338-T and PLCG2 _rs72824905-G were previously associated with elevated or reduced risk of Alzheimer’s disease (AD), respectively. Despite reports of associations with other neurodegenerative diseases, there are few studies of these variants in purely neuropathologically diagnosed cohorts. Further, the effect of these mutations on neurodegenerative disease pathologies is unknown. In this study, we tested the effects of ABI3 _rs616338-T and PLCG2 _rs72824905-G on disease risk in autopsy cohorts comprised of 973 patients diagnosed neuropathologically with Lewy body disease (LBD-NP) and 1040 with progressive supranuclear palsy (PSP), compared to 3351 controls. LBD-NP patients were further categorized as high, intermediate and low likelihood of clinical dementia with Lewy bodies (DLB-CL) based on DLB Consortium criteria. We also tested for association with both Braak neurofibrillary tau tangle (n Total  = 2008, n PSP  = 1037, n LBD-NP  = 971) and Thal phase amyloid plaque scores (n Total  = 1786, n PSP  = 1018, n LBD-NP  = 768). Additionally, 841 PSP patients had quantitative tau neuropathology measures that were assessed for genetic associations. There was no statistically significant association with disease risk for either LBD-NP or PSP in our study. LBD intermediate category disease risk was significantly associated with ABI3 _rs616338-T (OR = 2.65, 95% CI 1.46–4.83, p  = 0.001). PLCG2 _rs72824905-G was associated with lower Braak stage (ß = − 0.822, 95% CI − 1.439 to − 0.204, p  = 0.009). This effect was more pronounced in the PSP (ß = − 0.995, 95% CI − 1.773 to − 0.218, p  = 0.012) than LBD-NP patients (ß = − 0.292, 95% CI − 1.283 to 0.698, p  = 0.563). PLCG2 _rs72824905-G also showed association with reduced quantitative tau pathology for each lesion type and overall tau burden in PSP (ß = − 0.638, 95% CI − 1.139 to − 0.136, p  = 0.013). These findings support a role for PLCG2 _rs72824905-G in suppressing tau neuropathology. ABI3 _rs616338-T may influence disease risk specifically in the LBD-NP intermediate category comprised of patients with diffuse neocortical or limbic LB, concurrently with moderate or high AD neuropathology, respectively. Our study provides a potential mechanism of action for the missense PLCG2 variant and suggests a differential disease risk effect for ABI3 in a distinct LBD-NP neuropathologic category.
    Type of Medium: Online Resource
    ISSN: 2051-5960
    URL: Article
    DOI: 10.1186/s40478-020-01050-0
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2020
    detail.hit.zdb_id: 2715589-4
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  • 2
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    An unexpected risk: Surgical procedures are common in patients with prion disease
    Wiley ; 2021
    In:  Alzheimer's & Dementia Vol. 17, No. S10 ( 2021-12)
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    In: Alzheimer's & Dementia, Wiley, Vol. 17, No. S10 ( 2021-12)
    Abstract: Patients with prion disease commonly present with visual, sensorimotor or gait complaints that may prompt surgical interventions for related disorders (e.g., cataracts, carpal tunnel syndrome and joint disease). To prevent iatrogenic transmission of prion disease, surgical instruments used on patients with possible prion disease must be decontaminated or decommissioned. This is only done when the diagnosis of possible prion disease is recognized by the healthcare team. We considered the frequency with which patients with definite or probable prion disease underwent surgeries within one year of the symptomatic onset of prion disease diagnosed. Method The Mayo Clinic’s Advanced Cohort Explorer was used to identify patients with prion disease diagnostic codes assessed since 1/1/2014 (n=296). Patients with prion disease enrolled in prospective studies of rapidly progressive dementia beginning 2/14/2015 at Washington University School of Medicine (St. Louis, MO) were also included (n=14). Charts were independently reviewed by two team members, and demographic and clinical details extracted. Result 108 patients with probable or definite prion disease were identified, including 62 (57%) with autopsy‐ or genetically‐proven prion disease (57 sporadic, 4 familial, 1 fatal familial insomnia). The majority of patients experienced a rapidly progressive course (mean symptom‐duration 10.0±9.7 months). Twenty‐nine patients (26.9%) underwent 36 surgeries or invasive procedures using durable instruments, including 3 high‐risk procedures directly involving the central nervous system, and 13 intermediate‐ (e.g., joint replacement) and 20 low‐risk procedures (e.g., endoscopy). Surgeries were performed a median of 10.2 months before death (range: 0.8‐62.3), with 16 (44%) performed after symptom onset. Surgical operators were unaware of the diagnosis of possible prion disease in all but one case (diagnostic brain biopsy). Conclusion Surgeries were common in patients with prion disease in this series and were commonly performed by operators who were unaware of the diagnosis. Coordinated approaches to screening and reporting may be needed to reduce the risk of iatrogenic spread of prion disease.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v17.S10
    DOI: 10.1002/alz.052964
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2201940-6
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  • 3
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    Biomarkers and clinical presentations in Creutzfeldt‐Jakob Disease
    Wiley ; 2022
    In:  Alzheimer's & Dementia Vol. 18, No. S6 ( 2022-12)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 18, No. S6 ( 2022-12)
    Abstract: The ability to detect malformed prion proteins using real‐time quaking‐induced conversion (RT‐QuIC) assays has transformed the diagnostic approach to sporadic Creutzfeldt‐Jakob disease (CJD), facilitating earlier recognition of affected patients. Recognizing this, we evaluated the frequency of clinical features and biomarker results at initial evaluation in patients with CJD and determined the relationship between these early features and CJD diagnosis and prognosis. Method Clinical data were extracted from the electronic medical records of patients with probable or definite (pathologically confirmed) CJD assessed at Mayo Clinic from 2014‐2021. Diagnoses of probable CJD were established by clinical consensus, referencing the Centers for Disease Control and Prevention diagnostic criteria. Clinical features and biomarkers results were evaluated at presentation, and associations with CJD diagnosis and symptomatic disease duration determined. Result One‐hundred fifteen patients were included (40, [35%] with definite CJD). Mean age‐at‐symptom onset was 64.8±9.4 years; 68 patients were female (59%). The sensitivity of clinical markers (myoclonus) and tests historically considered in patients with suspected CJD (e.g., stereotyped EEG abnormalities (16%), CSF 14‐3‐3 (60%)) was poor. Biomarkers with good diagnostic sensitivity included RT‐QuIC (93%), t‐tau levels 〉 1149 pg/mL (88%), and characteristic signal abnormalities on MRI (77%). Multivariable linear regression confirmed shorter survival for patients with myoclonus (125.9 days, 95% CI 23.3‐15.5, p=0.026), visual/cerebellar signs (180.19 days, 95% CI 282.2‐78.2, p 〈 0.001), positive 14‐3‐3 (193 days, 95% CI 304.9‐82.9; p 〈 0.001), and elevated t‐tau levels (each 1000 pg/ml increase was associated with a nine‐day shorter time‐to‐death, 95% CI 1‐18; p=0.041). Conclusion CSF RT‐QuIC and elevated t‐tau levels, and stereotyped MRI abnormalities continue to be strongly associated with the diagnosis in the modern era, while other clinical findings (myoclonus) and biomarkers results traditionally ascribed to CJD (e.g., PSWC on EEG, 14‐3‐3) offered less value in the diagnostic evaluation. Detection of visual or cerebellar features, myoclonus, CSF 14‐3‐3, and t‐tau levels may predict disease duration, justifying inclusion in the evaluation of CJD‐suspected patients.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v18.S6
    DOI: 10.1002/alz.062598
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2201940-6
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  • 4
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    Analysis of Clinical Features, Diagnostic Tests, and Biomarkers in Patients With Suspected Creutzfeldt-Jakob Disease, 2014-2021
    American Medical Association (AMA) ; 2022
    In:  JAMA Network Open Vol. 5, No. 8 ( 2022-08-03), p. e2225098-
    Details
    In: JAMA Network Open, American Medical Association (AMA), Vol. 5, No. 8 ( 2022-08-03), p. e2225098-
    Type of Medium: Online Resource
    ISSN: 2574-3805
    URL: Article
    DOI: 10.1001/jamanetworkopen.2022.25098
    Language: English
    Publisher: American Medical Association (AMA)
    Publication Date: 2022
    detail.hit.zdb_id: 2931249-8
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  • 5
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    Prevalence of Surgical Procedures in Patients with Prion Disease (2636)
    Ovid Technologies (Wolters Kluwer Health) ; 2021
    In:  Neurology Vol. 96, No. 15_supplement ( 2021-04-13)
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 96, No. 15_supplement ( 2021-04-13)
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.96.15_supplement.2636
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2021
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  • 6
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    Improving early recognition of Creutzfeldt‐Jakob disease mimics in clinical practice
    Wiley ; 2021
    In:  Alzheimer's & Dementia Vol. 17, No. S6 ( 2021-12)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 17, No. S6 ( 2021-12)
    Abstract: Diagnostic criteria emphasize the use of real‐time quaking‐induced conversion (RT‐QuIC) assays in cerebrospinal fluid (CSF) to identify patients with rapidly progressive dementia (RPD) due to for Creutzfeldt‐Jakob disease (CJD; CDC Diagnostic Criteria; Oct‐2018). Yet, this test is often performed in specialized centers, leading to delays in return of results. There is a need to leverage clinical features and the results of readily available tests to distinguish patients with CJD from those with other causes (‘CJD mimics’), including patients with potentially treatment‐responsive RPD. Method Patients with definite (pathology‐confirmed) or probable CJD (clinical features with positive RT‐QuIC) were identified through retrospective review of Mayo Clinic Enterprise (n=91) and Washington University in St. Louis records (n=14; Jan‐2014 to Dec‐2020). Demographic, clinical details and results of common investigations (e.g., neuroimaging, CSF analyses and electroencephalogram) were compared between CJD cases and ‘mimics’ who met clinical criteria for probable CJD but did not have CJD. Result CJD mimics were diagnosed with autoimmune encephalitis (n=8), neurosarcoidosis (n=1), FTLD/MND (n=1) and unknown dementia (n=1), comprising 11/155 (7%) patients enrolled with RPD at study sites. Median [range] ages‐at‐presentation (65.6 [21.9‐81.5] vs 62.4 [32.8‐76.4] years; p=0.09), % females (51% vs 46%; p 〉 0.99) and symptoms/signs were similar between groups, with the exception of motor complaints (e.g., spasms, focal weakness), which were more common in mimics (11/11 vs 55/105; p 〈 0.01). Electroencephalogram findings did not differ between groups. MRI findings compatible with CJD (i.e., restricted diffusion within deep nuclei/cortical ribbon) predominated in cases (80/105 vs 4/11; p 〈 0.01), while elevations in CSF leukocytes ( 〉 5 cells/hpf: 6/11 vs 5/103; p 〈 0.01) and protein 〉 45 mg/dL (10/11 vs 43/103; p 〈 0.01) were more common in mimics. Total‐tau levels 〉 1150 pg/mL (76/84 vs 2/10; p 〈 0.01) and ‘positive’ 14‐3‐3 (67/98 vs 3/10; p=0.03) were frequent in cases. Autoantibodies associated with autoimmune encephalitis were detected in 5/10 mimics but 0/87 cases (p 〈 0.01). Immunosuppressant therapies were provided to 10 mimics and 24 cases, with response limited to mimics. Conclusions Autoimmune encephalitis, neurosarcoidosis and select neurodegenerative diseases may mimic CJD at presentation. Findings from brain MRI and commonly available CSF tests may facilitate early recognition of mimics, providing an opportunity for early treatment.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v17.S6
    DOI: 10.1002/alz.054538
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2201940-6
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  • 7
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    Improving Early Recognition of Creutzfeldt-Jakob Disease Mimics
    Ovid Technologies (Wolters Kluwer Health) ; 2022
    In:  Neurology: Clinical Practice Vol. 12, No. 6 ( 2022-12), p. 406-413
    Details
    In: Neurology: Clinical Practice, Ovid Technologies (Wolters Kluwer Health), Vol. 12, No. 6 ( 2022-12), p. 406-413
    Abstract: Diagnostic criteria emphasize the use of sensitive and disease-specific tests to distinguish patients with rapidly progressive dementia (RPD) due to Creutzfeldt-Jakob disease (CJD) vs other causes (mimics). These tests are often performed in specialized centers, with results taking days to return. There is a need to leverage clinical features and rapidly reporting tests to distinguish patients with RPD due to CJD from those due to other causes (mimics) early in the symptomatic course. Methods In this case-control series, clinical features and the results of diagnostic tests were compared between mimics (n = 11) and patients with definite (pathologically proven, n = 33) or probable CJD (with positive real-time quaking-induced conversion [RT-QuIC], n = 60). Patients were assessed at Mayo Clinic Enterprise or Washington University from January 2014 to February 2021. Mimics were enrolled in prospective studies of RPD; mimics met the diagnostic criteria for probable CJD but did not have CJD. Results Mimics were ultimately diagnosed with autoimmune encephalitis (n = 6), neurosarcoidosis, frontotemporal lobar degeneration with motor neuron disease, dural arteriovenous fistula, cerebral amyloid angiopathy with related inflammation, and systemic lupus erythematous with polypharmacy. Age at symptom onset, sex, presenting features, and MRI and EEG findings were similar in CJD cases and mimics. Focal motor abnormalities (49/93, 11/11), CSF leukocytosis (4/92, 5/11), and protein 〉 45 mg/dL (39/92, 10/11) were more common in mimics ( p 〈 0.01). Positive RT-QuIC (77/80, 0/9) and total tau 〉 1149 pg/mL (74/82, 2/10) were more common in CJD cases (all p 〈 0.01). Protein 14-3-3 was elevated in 64/89 CJD cases and 4/10 mimics ( p = 0.067). Neural-specific autoantibodies associated with autoimmune encephalitis were detected within the serum (5/9) and CSF (5/10) of mimics; nonspecific antibodies were detected within the serum of 9/71 CJD cases. Discussion Immune-mediated, vascular, granulomatous, and neurodegenerative diseases may mimic CJD at presentation and should be considered in patients with early motor dysfunction and abnormal CSF studies. The detection of atypical features—particularly elevations in CSF leukocytes and protein—should prompt evaluation for mimics and consideration of empiric treatment while waiting for the results of more specific tests.
    Type of Medium: Online Resource
    ISSN: 2163-0402 , 2163-0933
    URL: Article
    DOI: 10.1212/CPJ.0000000000200097
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2022
    detail.hit.zdb_id: 2645818-4
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  • 8
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    Real‐time quaking‐induced conversion assays for prions: Applying a sensitive but imperfect test in clinical practice
    Wiley ; 2023
    In:  European Journal of Neurology Vol. 30, No. 7 ( 2023-07), p. 1854-1860
    Details
    In: European Journal of Neurology, Wiley, Vol. 30, No. 7 ( 2023-07), p. 1854-1860
    Abstract: Real‐time quaking‐induced conversion (RT‐QuIC) assays offer a sensitive and specific means for detection of prions, although false negative results are recognized in clinical practice. We profile the clinical, laboratory, and pathologic features associated with false negative RT‐QuIC assays and extend these to frame the diagnostic approach to patients with suspected prion disease. Methods A total of 113 patients with probable or definite prion disease were assessed at Mayo Clinic (Rochester, MN; Jacksonville, FL; Scottsdale, AZ) or Washington University School of Medicine (Saint Louis, MO) from 2013 to 2021. RT‐QuIC testing for prions was performed in cerebrospinal fluid (CSF) at the National Prion Disease Pathology Surveillance Center (Cleveland, OH). Results Initial RT‐QuIC testing was negative in 13 of 113 patients (sensitivity = 88.5%). RT‐QuIC negative patients were younger (median = 52.0 years vs. 66.1 years, p   〈  0.001). Other demographic and presenting features, and CSF cell count, protein, and glucose levels were similar in RT‐QuIC negative and positive patients. Frequency of 14‐3‐3 positivity (4/13 vs. 77/94, p   〈  0.001) and median CSF total tau levels were lower in RT‐QuIC negative patients (2517 vs. 4001 pg/mL, p  = 0.020), and time from symptom onset to first presentation (153 vs. 47 days, p  = 0.001) and symptomatic duration (710 vs. 148 days, p  = 0.001) were longer. Conclusions RT‐QuIC is a sensitive yet imperfect measure necessitating incorporation of other test results when evaluating patients with suspected prion disease. Patients with negative RT‐QuIC had lower markers of neuronal damage (CSF total tau and protein 14‐3‐3) and longer symptomatic duration of disease, suggesting that false negative RT‐QuIC testing associates with a more indolent course.
    Type of Medium: Online Resource
    ISSN: 1351-5101 , 1468-1331
    URL: Issue
    URL: Article
    DOI: 10.1111/ene.v30.7
    DOI: 10.1111/ene.15795
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2020241-6
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  • 9
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    Persistent chest pain following COVID ‐19 infection – A scoping review
    Wiley ; 2024
    In:  PM&R Vol. 16, No. 6 ( 2024-06), p. 605-625
    Details
    In: PM&R, Wiley, Vol. 16, No. 6 ( 2024-06), p. 605-625
    Abstract: Persistent chest pain (PCP) following acute COVID‐19 infection is a commonly reported symptom with an unclear etiology, making its management challenging. This scoping review aims to address the knowledge gap surrounding the characteristics of PCP following COVID‐19, its causes, and potential treatments. This is a scoping review of 64 studies, including observational (prospective, retrospective, cross‐sectional, case series, and case–control) and one quasi‐experimental study, from databases including Embase, PubMed/MEDLINE, Cochrane CENTRAL, Google Scholar, Cochrane Database of Systematic Reviews, and Scopus. Studies on patients with PCP following mild, moderate, and severe COVID‐19 infection were included. Studies with patients of any age, with chest pain that persisted following acute COVID‐19 disease, irrespective of etiology or duration were included. A total of 35 studies reported PCP symptoms following COVID‐19 (0.24%–76.6%) at an average follow‐up of 3 months or longer, 12 studies at 1–3 months and 17 studies at less than 1‐month follow‐up or not specified. PCP was common following mild—severe COVID‐19 infection, and etiology was mostly not reported. Fourteen studies proposed potential etiologies including endothelial dysfunction, cardiac ischemia, vasospasm, myocarditis, cardiac arrhythmia, pneumonia, pulmonary embolism, postural tachycardia syndrome, or noted cardiac MRI (cMRI) changes. Evaluation methods included common cardiopulmonary tests, as well as less common tests such as flow‐mediated dilatation, cMRI, single‐photon emission computed tomography myocardial perfusion imaging, and cardiopulmonary exercise testing. Only one study reported a specific treatment (sulodexide). PCP is a prevalent symptom following COVID‐19 infection, with various proposed etiologies. Further research is needed to establish a better understanding of the causes and to develop targeted treatments for PCP following COVID‐19.
    Type of Medium: Online Resource
    ISSN: 1934-1482 , 1934-1563
    URL: Issue
    URL: Article
    DOI: 10.1002/pmrj.v16.6
    DOI: 10.1002/pmrj.13098
    Language: English
    Publisher: Wiley
    Publication Date: 2024
    detail.hit.zdb_id: 2480906-8
    SSG: 31
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  • 10
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    Pain Associated With Monkeypox Virus: A Rapid Review
    Springer Science and Business Media LLC ; 2023
    In:  Cureus
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    In: Cureus, Springer Science and Business Media LLC
    Type of Medium: Online Resource
    ISSN: 2168-8184
    URL: Article
    DOI: 10.7759/cureus.34697
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2747273-5
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