Alzheimer disease and associated disorders最新文献_第8页

Patient and Caregiver Assessment of the Benefits From the Clinical Use of Amyloid PET Imaging. 患者和护理人员对淀粉样蛋白PET成像临床应用的益处评估。

IF 2.1

Alzheimer disease and associated disorders Pub Date : 2018-01-01 DOI: 10.1097/WAD.0000000000000220

Rafid Mustafa, Jared R Brosch, Gil D Rabinovici, Bradford C Dickerson, Maria C Carrillo, Bradley S Glazier, Sujuan Gao, Martha Tierney, Keith N Fargo, Mary G Austrom, Susan De Santi, David G Clark, Liana G Apostolova

{"title":"Patient and Caregiver Assessment of the Benefits From the Clinical Use of Amyloid PET Imaging.","authors":"Rafid Mustafa, Jared R Brosch, Gil D Rabinovici, Bradford C Dickerson, Maria C Carrillo, Bradley S Glazier, Sujuan Gao, Martha Tierney, Keith N Fargo, Mary G Austrom, Susan De Santi, David G Clark, Liana G Apostolova","doi":"10.1097/WAD.0000000000000220","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000220","url":null,"abstract":"Introduction: Few studies to date have explored patient and caregiver views on the clinical use of amyloid positron emission tomography (PET).Methods: A 7-item questionnaire assessing patient and caregiver views (510 total respondents) toward amyloid PET imaging was advertised broadly through alz.org/trialmatch.Results: We received 510 unique responses from 48 US states, 2 Canadian provinces, the Dominican Republic, and Greece. Both patients and caregivers indicated that they would want to receive amyloid imaging if offered the opportunity. Over 88% of respondents had a positive response (∼10% with neutral and 2% with negative responses) to whether amyloid PET should be offered routinely and be reimbursed. Such information was felt to be useful for long-term legal, financial, and health care planning. Respondents identifying with early age cognitive decline (younger than 65 y) were more likely to explore options for disability insurance (P=0.03). Responders from the Midwest were more likely to utilize information from amyloid imaging for legal planning (P=0.02), disability insurance (P=0.02), and life insurance (P=0.04) than other US regions.Discussion: Patients and caregivers supported the use of amyloid PET imaging in clinical practice and felt that the information would provide significant benefits particularly in terms of future planning.","PeriodicalId":520551,"journal":{"name":"Alzheimer disease and associated disorders","volume":" ","pages":"35-42"},"PeriodicalIF":2.1,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WAD.0000000000000220","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35252610","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}

引用次数: 6

Sporadic Cerebral Amyloid Angiopathy With Cortical Occipital Calcifications in the Elderly. 老年人散发性脑淀粉样血管病伴枕皮质钙化。

IF 2.1

Alzheimer disease and associated disorders Pub Date : 2018-01-01 DOI: 10.1097/WAD.0000000000000218

Gaël Nicolas, Olivier Martinaud

{"title":"Sporadic Cerebral Amyloid Angiopathy With Cortical Occipital Calcifications in the Elderly.","authors":"Gaël Nicolas, Olivier Martinaud","doi":"10.1097/WAD.0000000000000218","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000218","url":null,"abstract":"C amyloid angiopathy (CAA) is a common condition affecting the elderly and is associated with leukoencephalopathy and recurrent hemorrhagic strokes, including lobar microhematomas and macrohematomas and subarachnoid bleedings (for review, see the work of Biffi and Greenberg1). Although a definite diagnosis can only be reached after a postmortem examination, the diagnosis of probable CAA can be made using clinical and neuroimaging arguments, according to the Boston revised criteria.2 Very rare families exhibit autosomal dominant CAA due to a mutation in the APP gene, with an early onset (before 65 y). A minority of them exhibit cortical calcifications on computed tomographic (CT)-scan. Only 2 APP mutations have been reported to be associated with cortical calcifications and CAA, namely the Iowa (p.Asp694Asn, in 5/6 families) and the Italian mutation (p.Glu693Lys, in 1/5 families) (reviewed in the work of Sellal et al3). These calcifications, affecting mainly the occipital cortex, are considered to be very specific to these 2 rare mutations in the context of earlyonset CAA. We report here the case of a woman presenting with similar calcifications in the context of sporadic lateonset CAA.","PeriodicalId":520551,"journal":{"name":"Alzheimer disease and associated disorders","volume":" ","pages":"83-84"},"PeriodicalIF":2.1,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WAD.0000000000000218","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35645073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Brain Volumes and Longitudinal Cognitive Change: A Population-based Study. 脑容量和纵向认知变化:一项基于人群的研究。

IF 2.1

Alzheimer disease and associated disorders Pub Date : 2018-01-01 DOI: 10.1097/WAD.0000000000000235

Deepti Vibha, Henning Tiemeier, Saira S Mirza, Hieab H H Adams, Wiro J Niessen, Albert Hofman, Kameshwar Prasad, Aad van der Lugt, Meike W Vernooij, Mohammad A Ikram

{"title":"Brain Volumes and Longitudinal Cognitive Change: A Population-based Study.","authors":"Deepti Vibha, Henning Tiemeier, Saira S Mirza, Hieab H H Adams, Wiro J Niessen, Albert Hofman, Kameshwar Prasad, Aad van der Lugt, Meike W Vernooij, Mohammad A Ikram","doi":"10.1097/WAD.0000000000000235","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000235","url":null,"abstract":"Objective: To investigate the association of brain volumes, white matter lesion (WML) volumes, and lacunes, with cognitive decline in a population-based cohort of nondemented persons.Methods: Within the Rotterdam Study, 3624 participants underwent brain magnetic resonance imaging. Cognition was evaluated at baseline (2005 to 2009) and at the follow-up visit (2011 to 2013). We used a test battery that tapped into domains of executive function, information processing speed, motor speed, and memory. The volumetric measures assessed were total brain volume, lobar (gray matter and white matter) volumes, and hippocampal volumes. We also studied the association of WML volumes and lacunes with cognitive decline using linear regression models.Results: Total brain volume was associated with decline in global cognition, information processing, and motor speed (P<0.001) in analyses controlled for demographic and vascular factors. Specifically, smaller frontal and parietal lobes were associated with decline in information processing and motor speed, and smaller temporal and parietal lobes were associated with decline in general cognition and motor speed (P<0.001 for all tests). Total WML volume was associated with decline in executive function. Lobar WML volume, hippocampal volume, and lacunes were not associated with cognitive decline.Conclusions: Lower brain volume is associated with subsequent cognitive decline. Although lower total brain volume was significantly associated with decline in global cognition, specific lobar volumes were associated with decline in certain cognitive domains.","PeriodicalId":520551,"journal":{"name":"Alzheimer disease and associated disorders","volume":" ","pages":"43-49"},"PeriodicalIF":2.1,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WAD.0000000000000235","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35689188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 35

Predictors of Driving Cessation in Dementia: Baseline Characteristics and Trajectories of Disease Progression. 痴呆患者停止驾驶的预测因素:基线特征和疾病进展轨迹。

IF 2.1

Alzheimer disease and associated disorders Pub Date : 2018-01-01 DOI: 10.1097/WAD.0000000000000212

Michael H Connors, David Ames, Michael Woodward, Henry Brodaty

{"title":"Predictors of Driving Cessation in Dementia: Baseline Characteristics and Trajectories of Disease Progression.","authors":"Michael H Connors, David Ames, Michael Woodward, Henry Brodaty","doi":"10.1097/WAD.0000000000000212","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000212","url":null,"abstract":"A diagnosis of dementia implies the eventual need to relinquish driving. This is associated with significant morbidity and anticipating when it will need to occur can be important for planning. Patients, however, vary in the course of their disease. We sought to identify predictors of driving cessation in patients with dementia, including both baseline characteristics and changes in cognition and function over time as indicators of disease trajectory. A total of 779 patients with dementia were recruited from 9 memory clinics around Australia. Patients and their carers reported their driving status and completed measures of dementia severity, cognition, function, neuropsychiatric symptoms, and medication use at regular intervals over a 3-year period. Of the 247 patients still driving at baseline, 147 (59.5%) stopped driving during the study. Variables that predicted driving cessation included older age; female sex; greater dementia severity and cognitive and functional impairments at baseline; and greater increases in dementia severity and cognitive and functional impairments over 3 and 6 month periods. The findings confirm that easily assessable characteristics, including changes over time, predict future driving status. The findings underscore the value of regularly assessing patients with standardized measures to determine disease trajectory and likely prognosis.","PeriodicalId":520551,"journal":{"name":"Alzheimer disease and associated disorders","volume":" ","pages":"57-61"},"PeriodicalIF":2.1,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WAD.0000000000000212","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35421919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 18

Attenuation of Choroidal Thickness in Patients With Alzheimer Disease: Evidence From an Italian Prospective Study. 阿尔茨海默病患者脉络膜厚度衰减:来自意大利前瞻性研究的证据

IF 2.1

Alzheimer disease and associated disorders Pub Date : 2017-04-01 DOI: 10.1097/WAD.0000000000000176

Alessandro Trebbastoni, Michela Marcelli, Fabiana Mallone, Fabrizia D'Antonio, Letizia Imbriano, Alessandra Campanelli, Carlo de Lena, Magda Gharbiya

{"title":"Attenuation of Choroidal Thickness in Patients With Alzheimer Disease: Evidence From an Italian Prospective Study.","authors":"Alessandro Trebbastoni, Michela Marcelli, Fabiana Mallone, Fabrizia D'Antonio, Letizia Imbriano, Alessandra Campanelli, Carlo de Lena, Magda Gharbiya","doi":"10.1097/WAD.0000000000000176","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000176","url":null,"abstract":"Introduction: To compare the 12-month choroidal thickness (CT) change between Alzheimer disease (AD) patients and normal subjects.Methods: In this prospective, observational study, 39 patients with a diagnosis of mild to moderate AD and 39 age-matched control subjects were included. All the subjects underwent neuropsychological (Mini Mental State Examination, Alzheimer disease Assessment Scale-Cognitive Subscale, and the Clinical Dementia Rating Scale) and ophthalmological evaluation, including spectral domain optical coherence tomography, at baseline and after 12 months. CT was measured manually using the caliper tool of the optical coherence tomography device.Results: After 12 months, AD patients had a greater reduction of CT than controls (P≤0.05, adjusted for baseline CT, age, sex, axial length, and smoking).Discussion: CT in patients with AD showed a rate of thinning greater than what could be expected during the natural course of aging.","PeriodicalId":520551,"journal":{"name":"Alzheimer disease and associated disorders","volume":" ","pages":"128-134"},"PeriodicalIF":2.1,"publicationDate":"2017-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WAD.0000000000000176","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39981125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 33

Willingness to Be a Brain Donor: A Survey of Research Volunteers From 4 Racial/Ethnic Groups. 捐献大脑的意愿:来自4个种族/民族的研究志愿者的调查。

IF 2.1

Alzheimer disease and associated disorders Pub Date : 2017-04-01 DOI: 10.1097/WAD.0000000000000174

Linda Boise, Ladson Hinton, Howard J Rosen, Mary C Ruhl, Hiroko Dodge, Nora Mattek, Marilyn Albert, Andrea Denny, Joshua D Grill, Travonia Hughes, Jennifer H Lingler, Darby Morhardt, Francine Parfitt, Susan Peterson-Hazan, Viorela Pop, Tara Rose, Raj C Shah

{"title":"Willingness to Be a Brain Donor: A Survey of Research Volunteers From 4 Racial/Ethnic Groups.","authors":"Linda Boise, Ladson Hinton, Howard J Rosen, Mary C Ruhl, Hiroko Dodge, Nora Mattek, Marilyn Albert, Andrea Denny, Joshua D Grill, Travonia Hughes, Jennifer H Lingler, Darby Morhardt, Francine Parfitt, Susan Peterson-Hazan, Viorela Pop, Tara Rose, Raj C Shah","doi":"10.1097/WAD.0000000000000174","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000174","url":null,"abstract":"Introduction: Racial and ethnic groups are under-represented among research subjects who assent to brain donation in Alzheimer disease research studies. There has been little research on this important topic. Although there are some studies that have investigated the barriers to brain donation among African American study volunteers, there is no known research on the factors that influence whether or not Asians or Latinos are willing to donate their brains for research.Methods: African American, Caucasian, Asian, and Latino research volunteers were surveyed at 15 Alzheimer Disease Centers to identify predictors of willingness to assent to brain donation.Results: Positive predictors included older age, Latino ethnicity, understanding of how the brain is used by researchers, and understanding of what participants need to do to ensure that their brain will be donated. Negative predictors included African/African American race, belief that the body should remain whole at burial, and concern that researchers might not be respectful of the body during autopsy.Discussion: The predictive factors identified in this study may be useful for researchers seeking to increase participation of diverse ethnic groups in brain donation.","PeriodicalId":520551,"journal":{"name":"Alzheimer disease and associated disorders","volume":" ","pages":"135-140"},"PeriodicalIF":2.1,"publicationDate":"2017-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WAD.0000000000000174","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39980286","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}

引用次数: 32

MRI Markers Predict Cognitive Decline Assessed by Telephone Interview: The Northern Manhattan Study. 通过电话访谈评估的核磁共振标记物预测认知能力下降:北曼哈顿研究。

IF 2.1

Alzheimer disease and associated disorders Pub Date : 2017-01-01 DOI: 10.1097/WAD.0000000000000158

Clinton B Wright, Chuanhui Dong, Michelle R Caunca, Janet DeRosa, Ying Kuen Cheng, Tatjana Rundek, Mitchell S V Elkind, Charles DeCarli, Ralph L Sacco

{"title":"MRI Markers Predict Cognitive Decline Assessed by Telephone Interview: The Northern Manhattan Study.","authors":"Clinton B Wright, Chuanhui Dong, Michelle R Caunca, Janet DeRosa, Ying Kuen Cheng, Tatjana Rundek, Mitchell S V Elkind, Charles DeCarli, Ralph L Sacco","doi":"10.1097/WAD.0000000000000158","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000158","url":null,"abstract":"Background: Brain magnetic resonance imaging (MRI) allows researchers to observe structural pathology that may predict cognitive decline. Some populations are less accessible through traditional in-person visits, and may be under-represented in the literature.Methods: We examined white matter hyperintensity volume (WMHV) and cerebral parenchymal fraction (CPF) as predictors of cognitive decline measured by a modified Telephone Interview for Cognitive Status (TICS-m) in the Northern Manhattan Stroke Study, a racially and ethnically diverse cohort study. Participants were stroke-free, above 50 years old, and had no contraindications to MRI. A total of 1143 participants had MRI and TICS-m data available [mean age 70 (SD=9), 61% women, 66% Hispanic, 17% Black, 15% white].Results: Those in the third and fourth quartiles of WMHV had significantly greater decline in TICS-m over time as compared with those in the first quartile (Q3: -0.17 points/year, Q4: -0.30 points/year). Those in the bottom 2 quartiles of CPF had significantly greater decline in TICS-m than those in the top quartile (Q1: -0.3 points/year, Q2: -0.2 points/year). Apolipoprotein E (APOE) e4 allele carriers had greater cognitive decline per unit of CPF. Those with greater CPF preserve TICS-m performance better despite greater WMHV.Conclusions: Telephone cognitive assessments can detect decline due to white matter lesions and smaller brain volumes.","PeriodicalId":520551,"journal":{"name":"Alzheimer disease and associated disorders","volume":" ","pages":"34-40"},"PeriodicalIF":2.1,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WAD.0000000000000158","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34712272","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}

引用次数: 5

The Effects of Computerized Cognitive Testing of Older Patients on Primary Care Physicians' Approaches to Care: A Canadian Study. 老年患者计算机认知测试对初级保健医生护理方法的影响:一项加拿大研究。

IF 2.1

Alzheimer disease and associated disorders Pub Date : 2017-01-01 DOI: 10.1097/WAD.0000000000000159

Mary C Tierney, Jocelyn Charles, Gary Naglie, Liisa Jaakkimainen, Rahim Moineddin

{"title":"The Effects of Computerized Cognitive Testing of Older Patients on Primary Care Physicians' Approaches to Care: A Canadian Study.","authors":"Mary C Tierney, Jocelyn Charles, Gary Naglie, Liisa Jaakkimainen, Rahim Moineddin","doi":"10.1097/WAD.0000000000000159","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000159","url":null,"abstract":"Background: We evaluated effects of providing primary care physicians (PCPs) with reports of their patients' results on the Computer Assessment of Mild Cognitive Impairment (CAMCI) by examining their documented care approaches after receipt of the report.Methods: Patients were 65 years and above, without a diagnosis or previous workup for dementia, seen consecutively over 2 months by one of 13 PCPs. PCPs indicated whether they, patients, or families had concerns about patients' cognition. A total of 259 patients individually completed the CAMCI and results were provided to the PCP. Two raters blind to CAMCI results recorded care approaches documented by PCPs at the first visit within 3 months of report (n=181).Results: In total, 28 different care approaches were grouped as related to Cognition or Safety/Self-Care. Negative binomial regression revealed that the number of care approaches was significantly associated with performance on the CAMCI for both Cognition and Safety/Self-care domains. These findings remained significant when covariates included PCPs' cognitive concern before CAMCI results, and patients' age, sex, number of comorbidities, and living arrangements.Conclusions: Our findings indicate that PCPs documented more care approaches in patients with greater cognitive impairment based on the CAMCI results and this was independent of their, the patients', or families' prior concerns about their patients' cognition.","PeriodicalId":520551,"journal":{"name":"Alzheimer disease and associated disorders","volume":" ","pages":"62-68"},"PeriodicalIF":2.1,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WAD.0000000000000159","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34608746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

Optimizing Effect Sizes With Imaging Enrichment and Outcome Choices for Mild Alzheimer Disease Clinical Trials. 轻度阿尔茨海默病临床试验的成像富集和结局选择优化效应大小。

IF 2.1

Alzheimer disease and associated disorders Pub Date : 2017-01-01 DOI: 10.1097/WAD.0000000000000150

Timothy S Chang, Edmond Teng, David Elashoff, Joshua D Grill

{"title":"Optimizing Effect Sizes With Imaging Enrichment and Outcome Choices for Mild Alzheimer Disease Clinical Trials.","authors":"Timothy S Chang, Edmond Teng, David Elashoff, Joshua D Grill","doi":"10.1097/WAD.0000000000000150","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000150","url":null,"abstract":"Recent clinical trials in mild Alzheimer disease (AD) have enriched for amyloid-specific positron emission tomography (PET) imaging and used extended versions of the AD Assessment Scale-Cognitive Subscale (ADAS-Cog) in an effort to increase the sensitivity to detect treatment effects. We used data from mild AD participants in the AD Neuroimaging Initiative to model trial effect sizes for 12- and 24-month trials using 3 versions of the ADAS-Cog and increased standardized uptake value ratio (SUVR) cutoffs for amyloid imaging inclusion criteria. For 12-month trials, extended ADAS-Cog versions improved effect sizes. The ADAS-Cog11 elicited larger effect sizes when enriching for SUVR 1.1 only, whereas the ADAS-Cog12 and ADAS-Cog13 were associated with larger effect sizes with higher SUVR thresholds. For 24-month trials, extended ADAS-Cog versions increased effect sizes for trials not enriched for amyloid and trials enriched for SUVR 1.1. Only enriching for higher SUVR thresholds (1.3 and 1.4, not 1.1) increased trial power. We conclude that extended versions of the ADAS-Cog improve mild AD trial effect sizes for both 12- and 24-month long studies, whereas amyloid imaging criteria may be most valuable for 12-month trials.","PeriodicalId":520551,"journal":{"name":"Alzheimer disease and associated disorders","volume":" ","pages":"19-26"},"PeriodicalIF":2.1,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WAD.0000000000000150","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34394753","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}

引用次数: 1

GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. 巴西2个额颞叶痴呆研究中心的GRN和MAPT突变

IF 2.1

Alzheimer disease and associated disorders Pub Date : 2016-10-01 DOI: 10.1097/WAD.0000000000000153

Leonel T Takada, Valeria S Bahia, Henrique C Guimarães, Thais V M M Costa, Thiago C Vale, Roberta D Rodriguez, Fabio H G Porto, João C B Machado, Rogério G Beato, Karolina G Cesar, Jerusa Smid, Camila F Nascimento, Lea T Grinberg, Sonia M D Brucki, Jessica R Maximino, Sarah T Camargos, Gerson Chadi, Paulo Caramelli, Ricardo Nitrini

{"title":"GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.","authors":"Leonel T Takada, Valeria S Bahia, Henrique C Guimarães, Thais V M M Costa, Thiago C Vale, Roberta D Rodriguez, Fabio H G Porto, João C B Machado, Rogério G Beato, Karolina G Cesar, Jerusa Smid, Camila F Nascimento, Lea T Grinberg, Sonia M D Brucki, Jessica R Maximino, Sarah T Camargos, Gerson Chadi, Paulo Caramelli, Ricardo Nitrini","doi":"10.1097/WAD.0000000000000153","DOIUrl":"https://doi.org/10.1097/WAD.0000000000000153","url":null,"abstract":"Background: Mutations in GRN (progranulin) and MAPT (microtubule-associated protein tau) are among the most frequent causes of monogenic frontotemporal dementia (FTD), but data on the frequency of these mutations in regions such as Latin America are still lacking.Objective: We aimed to investigate the frequencies of GRN and MAPT mutations in FTD cohorts from 2 Brazilian dementia research centers, the University of Sao Paulo and the Federal University of Minas Gerais medical schools.Methods: We included 76 probands diagnosed with behavioral-variant FTD (n=55), semantic-variant Primary Progressive Aphasia (PPA) (n=11), or nonfluent-variant PPA (n=10). Twenty-five percent of the cohort had at least 1 relative affected with FTD.Results: Mutations in GRN were identified in 7 probands, and in MAPT, in 2 probands. We identified 3 novel GRN mutations (p.Q130X, p.317Afs*12, and p.K259Afs*23) in patients diagnosed with nonfluent-variant PPA or behavioral-variant FTD. Plasma progranulin levels were measured and a cutoff value of 70 ng/mL was found, with 100% sensitivity and specificity to detect null GRN mutations.Conclusions: The frequency of GRN mutations was 9.6% and that of MAPT mutations was 7.1%. Among familial cases of FTD, the frequency of GRN mutations was 31.5% and that of MAPT mutations was 10.5%.","PeriodicalId":520551,"journal":{"name":"Alzheimer disease and associated disorders","volume":" ","pages":"310-317"},"PeriodicalIF":2.1,"publicationDate":"2016-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WAD.0000000000000153","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34406571","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}

引用次数: 15