Dementia e Neuropsychologia最新文献

{"title":"Inclusive research with individuals with Down syndrome at risk for dementia.","authors":"Luciana Mascarenhas Fonseca, Ubiratan Tafuri Queiroz, Miron Tafuri Queiroz, Orestes Vicente Forlenza","doi":"10.1590/1980-5764-DN-2024-0280","DOIUrl":"10.1590/1980-5764-DN-2024-0280","url":null,"abstract":"<p><p>Inclusive research is a relatively new concept that has received attention in recent years as a scientific priority to respond to health disparities and maximize the practical implications of research. This approach involves a partnership between academics and the individuals who are experiencing the problem to be investigated. Despite the high incidence of dementia and asymptomatic Alzheimer's disease in aging individuals with Down syndrome, inclusive research with this population or those with intellectual disability (ID) at risk of dementia is an area that is little approached and not well documented. Here, we describe the evolution of inclusive research on ID and dementia, some of the challenges and benefits of its implementation, and key aspects to consider when planning such studies. There is an urgent need for national and international guidelines to support inclusive research involving this population. Such frameworks should ensure accessibility, ethical rigor, the meaningful participation of co-researchers, ultimately advancing equity and scientific quality in this underrepresented field.</p>","PeriodicalId":39167,"journal":{"name":"Dementia e Neuropsychologia","volume":"19 Suppl 1","pages":"e20240280"},"PeriodicalIF":0.0,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12626224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145558049","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":"Effects of a coordinated program of psychomotricity and cognitive stimulation in vascular mild cognitive impairment and vascular dementia.","authors":"Karla Valencia-Quiroz, Gerardo Maldonado-Paz, Adela Hernández-Galván","doi":"10.1590/1980-5764-DN-2025-0293","DOIUrl":"10.1590/1980-5764-DN-2025-0293","url":null,"abstract":"<p><p>There is a growing interest in the study of vascular mild cognitive impairment (vMCI) and vascular dementia (VD) due to the increasing incidence of cardiovascular risk factors such as diabetes and overweight. The study of non-pharmacological interventions in individuals with vMCI and VD is crucial due to the cognitive and motor consequences of these conditions on the daily lives of individuals. Whereas most interventions are designed from a single disciplinary perspective, the intervention employed in this study integrated both psychomotor and cognitive approaches to concurrently stimulate participants' embodied experience and cognitive processes.</p><p><strong>Objective: </strong>To assess the effects of an intervention combining cognitive stimulation and motor work on memory, attention, praxis, visuospatial abilities, and motor skills.</p><p><strong>Methods: </strong>A two-case study (one with vMCI and one with VD) with psychomotor and cognitive assessments pre- and post-intervention. The intervention combined psychomotor skills and cognitive stimulation and was applied over four months (32 sessions).</p><p><strong>Results: </strong>The participant with vMCI showed improvements in attention processes, executive functions, and psychomotor skills. The participant with VD showed improvements in memory and psychomotor skills. In both participants, stability was observed in the majority of the cognitive variables measured, along with improvements in processing visuospatial stimuli and neuropsychiatric symptoms (anxiety and apathy).</p><p><strong>Conclusion: </strong>Motor work can catalyze mental ability, promoting cognitive stimulation from the body to thought, which may be useful in improving and/or achieving stability in cognitive performance in individuals with vMCI and VD.</p>","PeriodicalId":39167,"journal":{"name":"Dementia e Neuropsychologia","volume":"19 ","pages":"e20250293"},"PeriodicalIF":0.0,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12626226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145558075","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":"Do subclinical anxious and depressive symptoms affect facial emotion recognition? An exploratory investigation.","authors":"Agnes Stéphanie da Silva, Aline Silva de Miranda, Maíra Glória de Freitas Cardoso, Luciano Inácio Mariano, Vinicius Sousa Pietra Pedroso, Antônio Lúcio Teixeira, Leonardo Cruz de Souza","doi":"10.1590/1980-5764-DN-2025-0304","DOIUrl":"10.1590/1980-5764-DN-2025-0304","url":null,"abstract":"<p><p>Emotion recognition is a key component of social cognition. Symptoms of depression and anxiety may modulate this ability.</p><p><strong>Objective: </strong>To investigate the effect of subclinical depressive and anxiety symptoms on performance in a facial emotion recognition test.</p><p><strong>Methods: </strong>A total of 203 participants (109 females and 94 males; mean age 48.8±19 years; mean schooling 9.3±5.1 years) without current or past history of psychiatric or neurological disorders were enrolled. None had abnormal scores on the anxiety or depression subscales of the Hospital Anxiety and Depression (HAD) Scale. All participants (N=203) underwent the Mini-Mental State Exam (MMSE) and the Facial Emotion Recognition Test (FERT), which assesses recognition of: anger, disgust, fear, happiness, sadness, surprise, and neutral expressions. Multivariate analyses included HAD-Anxiety, HAD-Depression, MMSE, age, and schooling as covariates.</p><p><strong>Results: </strong>Age, schooling, and MMSE were significantly correlated with FERT scores. A significant negative correlation was found between FERT-Total and HAD-Depression (r=-0.22; p<0.002), and between FERT-Fear and HAD-Depression (r=-0.31; p<0.0001). No other significant correlations were observed between FERT scores and psychiatric measures. Anxiety and depression scores were not retained in the final multivariate models, except for a negative correlation between HAD-Anxiety and FERT-Fear.</p><p><strong>Conclusion: </strong>Subclinical anxious and depressive symptoms have a modest effect on FERT.</p>","PeriodicalId":39167,"journal":{"name":"Dementia e Neuropsychologia","volume":"19 ","pages":"e20240304"},"PeriodicalIF":0.0,"publicationDate":"2025-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12561166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145402296","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":"Validity and reliability of the Brazilian version of the reading anxiety scale (RAS) for children.","authors":"Francielle Machado Beria, Giulia Moreira Paiva, Luciane da Rosa Piccolo, Vitor Geraldi Haase, Gisele Gus Manfro, Jerusa Fumagalli de Salles","doi":"10.1590/1980-5764-DN-2024-0212","DOIUrl":"10.1590/1980-5764-DN-2024-0212","url":null,"abstract":"<p><p>Reading anxiety (RA) significantly influences children's emotional and cognitive development, affecting their reading performance. Effective identification of RA requires reliable and valid assessment tools tailored for specific populations, such as Brazilian children.</p><p><strong>Objective: </strong>To evaluate the psychometric properties, including validity and reliability, of the Brazilian version of the Reading Anxiety Scale (RAS) in elementary school children.</p><p><strong>Methods: </strong>A sample of 225 Brazilian elementary students was assessed using the RAS-20. Confirmatory factor analysis (CFA) was employed to evaluate content-based validity. Internal consistency was measured using Cronbach's alpha, and Pearson's correlations assessed associations with external constructs such as reading performance and executive functions. Group comparisons were conducted using ANCOVA between children with and without reading difficulties.</p><p><strong>Results: </strong>After CFA adjustments, a single-factor model with 18 items showed robust internal consistency. The correlation between RAS-20 scores and variables related to reading and cognitive functions supported moderate validity. Children with reading difficulties scored significantly higher on the RA scale than those without.</p><p><strong>Conclusion: </strong>The adapted 18-item RAS version is a reliable and valid tool for assessing reading anxiety in Brazilian children, contributing to more effective identification and intervention in educational contexts.</p>","PeriodicalId":39167,"journal":{"name":"Dementia e Neuropsychologia","volume":"19 ","pages":"e20240212"},"PeriodicalIF":0.0,"publicationDate":"2025-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12561168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145402331","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":"Baseline characterization of dementia cases from a reference center in Recife, Northeast Brazil.","authors":"Mariana Albuquerque de Luna, Ana Rosa Santana, Maria Eduarda Pires, Andreia Braga Mota Azzoni, Alberto Henrique Torres Trindade da Silva, Cesar Francisco Penninck de Aguiar Kato, Bárbara Matos Almeida Queiroz, Ana Paula Silva de Oliveira, Rodrigo Cavalcanti Machado da Silva, Tatiana Caldas Neves da Silva, Simone Cristina Soares Brandão, Luziany Carvalho Araújo, Breno José Alencar Pires Barbosa","doi":"10.1590/1980-5764-DN-2025-0385","DOIUrl":"10.1590/1980-5764-DN-2025-0385","url":null,"abstract":"<p><p>There are a limited number of reports on dementia in Brazil. Due to data heterogeneity, dementia figures in Brazil do not uniformly reflect all regions. Therefore, data from the North and Northeast regions, historically most affected by social inequalities, are required.</p><p><strong>Objective: </strong>To describe the sample of patients followed at a dementia outpatient clinic in a tertiary center in Northeastern Brazil.</p><p><strong>Methods: </strong>This was a single-center, descriptive analysis of patients evaluated in the dementia outpatient clinic at the Federal University of Pernambuco between 2018 and 2023.</p><p><strong>Results: </strong>A total of 145 patients with complete data were included in the descriptive analysis. The mean age was 71 years, and 57% were women. The most prevalent comorbidity was hypertension (54%), followed by diabetes (31%). Most patients were assessed in either the moderate (30%) or severe (33%) stage of dementia. Alzheimer disease was the most frequent diagnosis (31%), followed by frontotemporal dementia (14%) and vascular cognitive impairment (9%). Approximately 36% of the sample was classified as having mixed-pathology dementia. Neuroimaging assessments varied; 60% of patients underwent cranial magnetic resonance imaging, and molecular neuroimaging exams were performed in 42% of cases.</p><p><strong>Conclusion: </strong>Patients referred for evaluation were mostly in moderate to advanced stages of dementia, with a significant prevalence of mixed-type and non-Alzheimer's pathologies. The present study may set the foundation for further collaborations and prospective studies.</p>","PeriodicalId":39167,"journal":{"name":"Dementia e Neuropsychologia","volume":"19 ","pages":"e20250385"},"PeriodicalIF":0.0,"publicationDate":"2025-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12561164/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145402318","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":"The Neuropsychiatric Inventory Questionnaire and Mini-Mental State Examination in low- and middle-income countries: correlational insights from a Vietnamese memory clinic sample.","authors":"Quynh-Nga Pham, Vinh-Khang Nguyen, Cong-Thang Tran","doi":"10.1590/1980-5764-DN-2025-0326","DOIUrl":"10.1590/1980-5764-DN-2025-0326","url":null,"abstract":"<p><p>In low- and middle-income countries, dementia awareness remains limited; behavioral and psychological symptoms of dementia (BPSD) are often misunderstood and underutilized in early screening.</p><p><strong>Objective: </strong>To examine the correlation between cognitive and behavioral symptoms using the Mini-Mental State Examination (MMSE) and the Neuropsychiatric Inventory Questionnaire (NPI-Q) in a Vietnamese clinical sample.</p><p><strong>Methods: </strong>A total of 98 participants aged 40 and above with memory complaints were recruited from the outpatient dementia clinic at University Medical Center, Ho Chi Minh City. All participants underwent neurological and physical examinations, cognitive screening using the Vietnamese version of the MMSE, and behavioral assessment using the Vietnamese NPI-Q completed by caregivers. Brain imaging via computed tomography (CT) or magnetic resonance imaging (MRI) was also performed. Participants were categorized based on MMSE scores, and correlations between MMSE and NPI-Q scores were analyzed.</p><p><strong>Results: </strong>BPSD was present in 95.9% of participants. Anxiety was most frequent in individuals with subjective memory complaints, while psychotic symptoms and apathy were more common in those with severe cognitive impairment. A moderate negative correlation was found between MMSE and NPI-Q scores.</p><p><strong>Conclusion: </strong>The combined use of MMSE and NPI-Q, supported by brain imaging, may provide a practical approach for the initial screening of individuals with memory complaints, particularly in low- and middle-income countries (LMICs) where access to specialist resources is limited.</p>","PeriodicalId":39167,"journal":{"name":"Dementia e Neuropsychologia","volume":"19 ","pages":"e20250326"},"PeriodicalIF":0.0,"publicationDate":"2025-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12561169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145402244","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":"Association between small vessel disease and slow gait speed in older adults with cognitive impairment.","authors":"Mauricio Vazquez-Guajardo, Alberto José Mimenza-Alvarado, Luis Enrique Martínez-Bravo, Johnatan Rubalcava-Ortega, Manuel Montero-Odasso, Sara Gloria Aguilar-Navarro","doi":"10.1590/1980-5764-DN-2025-0313","DOIUrl":"10.1590/1980-5764-DN-2025-0313","url":null,"abstract":"<p><p>Subjective cognitive decline and mild cognitive impairment are often associated with gait disturbances, increasing dementia risk. Cerebral small vessel disease (CSVD) may underlie these associations.</p><p><strong>Objective: </strong>To examine the association between CSVD lesion types and locations with slow gait speed in older adults with subjective cognitive decline and mild cognitive impairment.</p><p><strong>Methods: </strong>In this cross-sectional study, 124 older adults met the inclusion criteria. Participants underwent clinical evaluation, gait speed assessment, and brain magnetic resonance imaging. CSVD burden was assessed using the STRIVE-2 criteria and quantified using Fazekas and modified Scheltens scales. Logistic regression analyses were conducted to calculate odds ratios (OR) with 95% confidence intervals.</p><p><strong>Results: </strong>Individuals with slow gait were older, had lower education levels, and a higher prevalence of hypertension. Neuroimaging analysis revealed a significant association between slow gait and global white matter hyperintensities (WMH) burden (Fazekas score ≥2: 34.5 vs. 12.1%, p<0.003; Scheltens score ≥5: 65.8 vs. 42.4%, p<0.010). Regional WMH analysis showed increased burden in frontal and occipital regions in the slow gait group. Lacunar infarcts were more prevalent in the slow gait group (15.2 vs. 3.4%, p=0.028). Multivariate analysis revealed that lacunar infarcts and WMH in specific brain regions remained significant predictors of slow gait, even after adjusting for confounders.</p><p><strong>Conclusion: </strong>CSVD, particularly lacunar infarcts and specific WMH patterns, is associated with slow gait in this population. Early identification and management of CSVD may help mitigate its impact on gait and functional status.</p>","PeriodicalId":39167,"journal":{"name":"Dementia e Neuropsychologia","volume":"19 ","pages":"e20250313"},"PeriodicalIF":0.0,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12561174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145402254","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":"Trends in Alzheimer's disease mortality in Espírito Santo, Brazil: a time series study.","authors":"Ana Luisa Horsth, Marcelo Matieli da Silva, Jéssica Barreto Ribeiro Dos Santos, Michael Ruberson Ribeiro da Silva","doi":"10.1590/1980-5764-DN-2025-0327","DOIUrl":"10.1590/1980-5764-DN-2025-0327","url":null,"abstract":"<p><p>Alzheimer's disease (AD) is one of the leading causes of dementia in older adults and is associated with a significant increase in the number of deaths globally.</p><p><strong>Objective: </strong>This study analyzed mortality from AD in the state of Espírito Santo, Brazil, between 2013 and 2022.</p><p><strong>Methods: </strong>This ecological time series study used data from the Mortality Information System and the Brazilian Institute of Geography and Statistics, identifying deaths per the International Classification of Diseases 10^th Revision (ICD-10) codes for AD (G30, G30.0, G30.1, G30.8, G30.9). Time trend analyses were estimated using Prais-Winsten linear regression to assess annual variations, and the Joinpoint regression model was applied to calculate the annual percentage change (APC).</p><p><strong>Results: </strong>A total of 6,083 deaths from AD were identified during the study period. We observed a progressive increase in the absolute number of deaths, up from 375 in 2013 to 802 in 2022, as well as in the mortality rate, which rose from 9.77 to 21.02 per 100 thousand inhabitants. We identified a statistically significant upward trend (p<0.001), with a mean annual increase of 49.68 deaths (β₁=49.68) and an APC of 8.84%. Most deaths were recorded among women, with a mean age of 85.13 years, predominantly among white individuals and widows. Deaths occurred mainly in hospitals, followed by homes.</p><p><strong>Conclusion: </strong>The study showed a significant increase in mortality from AD in Espírito Santo over the years, reinforcing the importance of preventive strategies aimed at health care and healthy aging.</p>","PeriodicalId":39167,"journal":{"name":"Dementia e Neuropsychologia","volume":"19 ","pages":"e20250327"},"PeriodicalIF":0.0,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12561170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145402309","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":"Quantifying metabolic decrement in brain FDG-PET of a complex frontotemporal dementia case.","authors":"Raphael de Luca E Tuma, Artur Martins Coutinho, Camila de Godoi Carneiro, Luciana Cassimiro, Lucas Assis Santos de Souza, Carlos Alberto Buchpiguel, Leonel T Takada, Sonia Maria Dozzi Brucki","doi":"10.1590/1980-5764-DN-2024-0277","DOIUrl":"10.1590/1980-5764-DN-2024-0277","url":null,"abstract":"<p><p>Diagnosis of behavioral variant frontotemporal dementia (bvFTD) in its initial stages can be supported by brain [18F] fluorodeoxyglucose-positron emission tomography (FDG-PET). The routine use of semi-quantitative analyses in FDG-PET is formally recommended. However, the longitudinal changes observed in sequential FDG-PETs scans throughout neurodegenerative diseases remain insufficiently understood. In this case, a bvFTD phenocopy remained clinically stable for nine years before exhibiting functional decline consistent with bvFTD. Hypometabolism compatible with bvFTD was observed only on the third FDG-PET, performed six years after the first. Retrospective analysis revealed that the second FDG-PET had already shown a decline in metabolism in areas typically affected by bvFTD compared to the first scan. During the period of clinical stability, individual exams were insufficient to confirm the diagnosis. However, the metabolic decrease between the first and second scans may have indicated subclinical progression. The decline in semi-quantitative FDG-PET scores could represent a useful diagnostic tool in bvFTD.</p>","PeriodicalId":39167,"journal":{"name":"Dementia e Neuropsychologia","volume":"19 ","pages":"e20240277"},"PeriodicalIF":0.0,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12561171/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145402264","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":"TBK1 mutation and its role in frontotemporal dementia and amyotrophic lateral sclerosis in Brazilian families.","authors":"Rachel Leirner Argelazi, Santhiago Calvelo Graça, Pedro Vilaça Thomazoni, Carolina Braga Moura, Ana Carolina Gomes, Matheus Kohama Kormanski, Sephora Sabrina Candido de Almeida, Yngrid Dieguez Ferreira, Diogo Haddad Santos","doi":"10.1590/1980-5764-DN-2024-0227","DOIUrl":"10.1590/1980-5764-DN-2024-0227","url":null,"abstract":"<p><p>Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are progressive neurodegenerative diseases with unclear etiology. Mutations in the TBK1 gene are associated with an increased risk of both FTD and ALS, presenting a diverse phenotype that includes the behavioral variant of FTD, primary progressive aphasia, and pure ALS. This mutation is rare, and to date, only one case report on TBK1-related clinical manifestations has been published in Brazil.</p><p><strong>Objective: </strong>To investigate the association between TBK1 gene mutations and the clinical manifestations of FTD and ALS in a Brazilian family, documenting the clinical history and disease progression of three first-degree relatives. Additionally, to conduct a literature review to better understand the impact of this mutation and its implications for neurological practice.</p><p><strong>Methods: </strong>Clinical data were collected from three patients in the same family who were receiving care at Dom Pedro II Geriatric Hospital and Central Hospital of the Irmandade da Santa Casa de Misericordia de São Paulo, including information on clinical symptoms, disease progression, and complementary exams - particularly genetic testing to detect and confirm the diagnosis. A detailed analysis of the existing literature on the disease was also conducted to better understand the implications of this mutation.</p><p><strong>Results: </strong>Three siblings affected by the TBK1 gene mutation were documented, with a unique family history suggesting that this genetic alteration has affected the lineage for several generations.</p><p><strong>Conclusion: </strong>Although rare, frontotemporal dementia with accompanying motor deficits is of significant relevance to neurologists due to its poor prognosis and the potential familial impact on descendants.</p>","PeriodicalId":39167,"journal":{"name":"Dementia e Neuropsychologia","volume":"19 ","pages":"e20240227"},"PeriodicalIF":0.0,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12513717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281371","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}