1.Advances in gene and cellular therapeutic approaches for Huntington's disease.
Xuejiao PIAO ; Dan LI ; Hui LIU ; Qing GUO ; Yang YU
Protein & Cell 2025;16(5):307-337
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by the abnormal expansion of CAG trinucleotide repeats in the Huntingtin gene (HTT) located on chromosome 4. It is transmitted in an autosomal dominant manner and is characterized by motor dysfunction, cognitive decline, and emotional disturbances. To date, there are no curative treatments for HD have been developed; current therapeutic approaches focus on symptom relief and comprehensive care through coordinated pharmacological and nonpharmacological methods to manage the diverse phenotypes of the disease. International clinical guidelines for the treatment of HD are continually being revised in an effort to enhance care within a multidisciplinary framework. Additionally, innovative gene and cell therapy strategies are being actively researched and developed to address the complexities of the disorder and improve treatment outcomes. This review endeavours to elucidate the current and emerging gene and cell therapy strategies for HD, offering a detailed insight into the complexities of the disorder and looking forward to future treatment paradigms. Considering the complexity of the underlying mechanisms driving HD, a synergistic treatment strategy that integrates various factors-such as distinct cell types, epigenetic patterns, genetic components, and methods to improve the cerebral microenvironment-may significantly enhance therapeutic outcomes. In the future, we eagerly anticipate ongoing innovations in interdisciplinary research that will bring profound advancements and refinements in the treatment of HD.
Huntington Disease/pathology*
;
Humans
;
Genetic Therapy/methods*
;
Animals
;
Huntingtin Protein/genetics*
;
Cell- and Tissue-Based Therapy/methods*
2.Inflammatory Bowel Disease and Dementia: Evidence Triangulation from a Meta-Analysis of Observational Studies and Mendelian Randomization Study.
Di LIU ; Mei Ling CAO ; Shan Shan WU ; Bing Li LI ; Yi Wen JIANG ; Teng Fei LIN ; Fu Xiao LI ; Wei Jie CAO ; Jin Qiu YUAN ; Feng SHA ; Zhi Rong YANG ; Jin Ling TANG
Biomedical and Environmental Sciences 2025;38(1):56-66
OBJECTIVE:
Observational studies have found associations between inflammatory bowel disease (IBD) and the risk of dementia, including Alzheimer's dementia (AD) and vascular dementia (VD); however, these findings are inconsistent. It remains unclear whether these associations are causal.
METHODS:
We conducted a meta-analysis by systematically searching for observational studies on the association between IBD and dementia. Mendelian randomization (MR) analysis based on summary genome-wide association studies (GWASs) was performed. Genetic correlation and Bayesian co-localization analyses were used to provide robust genetic evidence.
RESULTS:
Ten observational studies involving 80,565,688 participants were included in this meta-analysis. IBD was significantly associated with dementia (risk ratio [ RR] =1.36, 95% CI = 1.04-1.78; I 2 = 84.8%) and VD ( RR = 2.60, 95% CI = 1.18-5.70; only one study), but not with AD ( RR = 2.00, 95% CI = 0.96-4.13; I 2 = 99.8%). MR analyses did not supported significant causal associations of IBD with dementia (dementia: odds ratio [ OR] = 1.01, 95% CI = 0.98-1.03; AD: OR = 0.98, 95% CI = 0.95-1.01; VD: OR = 1.02, 95% CI = 0.97-1.07). In addition, genetic correlation and co-localization analyses did not reveal any genetic associations between IBD and dementia.
CONCLUSION
Our study did not provide genetic evidence for a causal association between IBD and dementia risk. The increased risk of dementia observed in observational studies may be attributed to unobserved confounding factors or detection bias.
Humans
;
Mendelian Randomization Analysis
;
Inflammatory Bowel Diseases/complications*
;
Dementia/etiology*
;
Observational Studies as Topic
;
Genome-Wide Association Study
3.Separate and Combained Associations of PM 2.5 Exposure and Smoking with Dementia and Cognitive Impairment.
Lu CUI ; Zhi Hui WANG ; Yu Hong LIU ; Lin Lin MA ; Shi Ge QI ; Ran AN ; Xi CHEN ; Hao Yan GUO ; Yu Xiang YAN
Biomedical and Environmental Sciences 2025;38(2):194-205
OBJECTIVE:
The results of limited studies on the relationship between environmental pollution and dementia have been contradictory. We analyzed the combined effects of PM 2.5 and smoking on the prevalence of dementia and cognitive impairment in an elderly community-dwelling Chinese population.
METHODS:
We assessed 24,117 individuals along with the annual average PM 2.5 concentrations from 2012 to 2016. Dementia was confirmed in the baseline survey at a qualified clinical facility, and newly suspected dementia was assessed in 2017, after excluding cases of suspected dementia in 2015. National census data were used to weight the sample data to reflect the entire population in China, with multiple logistic regression performed to analyze the combined effects of PM 2.5 and smoking frequency on dementia and cognitive impairment.
RESULTS:
Individuals exposed to the highest PM 2.5 concentration and smoked daily were at higher risk of dementia than those in the lowest PM 2.5 concentration group ( OR, 1.603; 95% CI [1.626-1.635], P < 0.0001) and in the nonsmoking group ( OR, 1.248; 95% CI [1.244-1.252]; P < 0.0001). Moderate PM 2.5 exposure and occasional smoking together increased the short-term risk of cognitive impairment. High-level PM 2.5 exposure and smoking were associated with an increased risk of dementia, so more efforts are needed to reduce this risk through environmental protection and antismoking campaigns.
CONCLUSION
High-level PM 2.5 exposure and smoking were associated with an increased risk of dementia. Lowering the ambient PM 2.5, and smoking cessation are recommended to promote health.
Humans
;
Dementia/etiology*
;
Male
;
Aged
;
Female
;
Cognitive Dysfunction/etiology*
;
China/epidemiology*
;
Particulate Matter/analysis*
;
Smoking/epidemiology*
;
Air Pollutants/analysis*
;
Aged, 80 and over
;
Environmental Exposure/adverse effects*
;
Prevalence
;
Middle Aged
4.Older adults' perceptions of dementia: A multiple case study in Cebu City, Philippines
Philippine Journal of Nursing 2025;95(2):62-70
BACKGROUND
Dementia is a progressive syndrome that leads to cognitive and functional decline among older adults, yet it remains widely misunderstood and often perceived as a normal part of aging. In the Philippines, cultural idioms and limited awareness contribute to stigma, delayed diagnosis, and inadequate care. This study explored how older adults in Cebu City perceive dementia, examining how cultural beliefs shape their understanding, and how openness to learning emerges when the condition is explained in clearer, culturally resonant terms.
METHODA multiple qualitative case study design was employed involving five older adults aged 60 and above. In-depth interviews were conducted and analyzed using qualitative content analysis supported by NVivo software. Trustworthiness was ensured through Lincoln and Guba's criteria of credibility, dependability, transferability, and confirmability.
RESULTSThree overarching themes with corresponding subthemes were identified: (1) Unraveling the Cognitive Puzzle: fragmented knowledge, experiential learning, and cultural framings that normalize dementia; (2) The Myths of Aging: beliefs that aging equates to inevitable decline, reinforced by cultural idioms, and blurred boundaries between normal aging and disease; and (3) Discovering Hope in Aging: transformation from fatalism to awareness, readiness for education, and empowerment through understanding. Together, these themes trace a trajectory from confusion to fatalism to hope.
CONCLUSIONOlder adults' perceptions of dementia are shaped by cultural narratives yet remain open to transformation through culturally sensitive education.
IMPLICATIONS FOR NURSING PRACTICENurses can lead community-based dementia education, screening, and caregiver support, reframing cultural beliefs into opportunities for early recognition and proactive engagement toward dementia-friendly communities.
Human ; Adult ; Cebus ; Dementia ; Philippines
5.Learning to not forget: Dementia risk awareness of hypertensive Filipino adults residing in the Philippines - Study protocol.
Maxine Adrienne Jill A. ROQUE ; Reia Angela E. RINGOR ; John Bryan C. RAZALAN ; Fatima May L. RIEGO ; Maria Leana Alexis U. ROCA ; Sebastien Zoe G. RODRIGUEZ ; Amanda Gabrielle L. ROMERO ; Vito C. ROQUE III ; Ida Marie T. LIM ; Inocencio P. ALEJANDRO
Journal of Medicine University of Santo Tomas 2025;9(S1):110-114
BACKGROUND
Hypertension is a major contributor to cognitive decline, and dementia is an increasing public health concern in the Philippines. Despite evidence linking these conditions, the awareness of dementia risk remains limited. Broader modifiable factors—such as nutrition, physical activity, smoking, alcohol use and sleep—also influence dementia risk but are not consistently emphasized in health education for hypertensive adults.
OBJECTIVETo comprehensively assess the dementia risk awareness of hypertensive Filipino adults residing in the Philippines.
METHODSAn adapted questionnaire will gather data on dementia risk awareness among hypertensive Filipino adults. Phase I involves distributing the questionnaire via Google Forms on social media and collecting informed consent, the Personal Data Sheet (PDS), Dementia Knowledge Assessment Scale (DKAS) responses and self-reported modifiable risk factors from the McCance Brain Care Score (BCS). Phase II consists of quantitative analysis using descriptive statistics, including sub-analyses assessing correlations between dementia risk awareness and secondary measures.
EXPECTED RESULTSAt least 384 responses from hypertensive Filipino adults are anticipated, allowing classification into dementia risk–aware or dementia risk–unaware groups using DKAS thresholds. Exploratory analyses will describe potential associations between dementia risk awareness and selected modifiable risk factors
Human ; Male ; Female ; Adolescent: 13-18 Yrs Old ; Young Adult: 19-24 Yrs Old ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Adult ; Awareness ; Dementia ; Learning ; Philippines ; Risk
6.Knowledge and attitude of Filipino caregivers of patients with dementia admitted for other health issues in a tertiary hospital in Metro Manila: A descriptive cross-sectional study
Raymond U. Tan ; Grace O. Orteza
Acta Medica Philippina 2025;59(8):65-76
BACKGROUND AND OBJECTIVES
The demographic background, level of knowledge, and attitude of caregivers are pillars of care in dementia. Family and non-family members take on this role. Studies have been done on their knowledge and attitude, but none have focused on them during hospitalization, wherein greater stress is imposed on both the caregiver and the patient. This study aims to determine the profiles, and its association with knowledge, and attitudes of caregivers of hospitalized patients with dementia in a tertiary hospital in Metro Manila.
METHODSA single-center descriptive cross-sectional design using Demographic profile Questionnaire, Alzheimer’s Disease Knowledge Scale (ADKS), and Dementia Attitude Scale (DAS) were used on Filipino caregivers of inpatients with dementia in Metro Manila. Simple and multivariable linear regression were used to assess demographic factors in relation to the attitude and knowledge of the caregivers.
RESULTSEighteen females with a mean age of 49 (SD=8) years old participated. Ten participants completed college. Six (33.3%) of the respondents were family members, five (27.8%) were occupational caregivers, four (22.2%) were house-helps, and two (11.1%) were nurses. Majority (66%) had 3-10-year duration of caregiving. Mean score of knowledge scale is 21.17 out of 30. Age, education, caregiver role, and attitude were positively associated with knowledge. The mean score for attitude level is 119.83 out of 140. Age, education, duration, caregiving role, patient’s age, and knowledge were positively associated with attitude; with education being statistically significant (p=0.046).
CONCLUSIONCaregivers exhibited reasonable knowledge for such caregivers to carry out their duties on inpatients with dementia at an adequate level, with several factors correlating positively, indicating areas for improvement. Their attitude scores revealed positive disposition; with education emerging as statistically significant. Continuing education and targeted interventions can further enhance quality of caregiving.
Dementia ; Caregiver Burden ; Attitude ; Knowledge ; Philippines
7.Association between orthostatic hypotension and cognitive impairment in Parkinson disease
Journal of Apoplexy and Nervous Diseases 2025;42(9):861-864
Autonomic nervous system dysfunction is one of the most common non-motor symptoms of Parkinson disease(PD), and orthostatic hypotension(OH) is one of the common features of autonomic nervous system dysfunction. OH and cognitive impairment are the most common non-motor symptoms of PD and can run through the whole course of the disease, and it remains unclear whether there is an association between these two non-motor symptoms. At present, a large number of studies have been conducted on the association between PD-OH and cognitive impairment abroad, but there are few similar studies in China. Therefore, this article summarizes the association between cognitive impairment and OH in PD, in order to provide a reference for the pathogenesis, treatment, and prevention of cognitive impairment in PD and brings new ideas for the treatment of cognitive impairment in PD.
Parkinson disease
;
Dementia
8.Clinical and radiologic profile of transient global amnesia in a Philippine tertiary hospital
Louie Lorenzo Mendoza Alcantara ; Veeda Michelle M. Anlacan ; Phillipe Ray S. M. Chionglo
Philippine Journal of Health Research and Development 2025;29(3):64-69
BACKGROUND
Magnetic resonance imaging (MRI) has gained increased diagnostic utility for patients with transient global amnesia (TGA), particularly for unwitnessed events or those with diagnostic uncertainty based on clinical grounds.
OBJECTIVESThe objectives are first, to determine the demographic and comorbid conditions of TGA patients; second, to determine the percentage of MRI diffusion weighted imaging (MRI DWI) hippocampal lesions, their time relationship from symptom onset, and their morphological characteristics; and lastly, to determine the dementia visual rating scale scores on neuroimaging for these patients.
METHODSA total of 20 TGA patients in a tertiary hospital from 2018 to 2022 were included in this retrospective study, and their medical records and neuroimaging were reviewed.
RESULTSTGA patients had a mean age of 61.4 years and a female predominance. Prevalent comorbid conditions include hypertension, dyslipidemia, and diabetes, and the majority were discharged with antithrombotic medications. An emotionally triggering event was identified in 15% (n = 3). Mean symptom onset-to-scan time was 8.33 h, and one patient (detection rate of 5%) who underwent neuroimaging after 21.7 h demonstrated typical punctate hippocampal DWI hyperintensity. None exhibited significant cortical atrophy.
CONCLUSIONTGA patients showed female predominance, occurring mostly within the 5th–6th decade, with a moderate prevalence of vascular risk factors and absence of significant cerebral atrophy based on the Dementia Visual Rating Scales. A conventional MRI protocol yielded a 5% detection rate with a delay of 21 h from symptom onset. Hence, in a resource-limited setting such as the Philippines, it may be suggested, with limited evidence, that performing the procedure in TGA patients when the event is unwitnessed or uncertain could be reasonable, as correctly diagnosing TGA has therapeutic implications. Further studies may investigate prospectively the diagnostic utility of MRI, neuropsychological profile, and estimate cardiovascular and cognitive deterioration risk.
Human ; Amnesia ; Amnesia, Transient Global ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy
9.Multicenter collection of uniform data on patients with cognitive impairment in the Philippines: The Philippine Neurological Association One Database–Dementia (PNA1DB-Dementia) Protocol.
Ma. Lourdes C. JOSON ; Encarnita R. AMPIL ; Stephanie J. BADILLO ; Jemelle CANO ; Joseree Ann S. CATINDIG ; Alvin Rae F. CENINA ; Donnabelle M. CHU ; Virginia ESPANOL ; Debbie C. LIQUETE ; Marissa T. ONG ; Grace O. ORTEZA ; Jacqueline C. DOMINGUEZ
Journal of Medicine University of Santo Tomas 2025;9(2):1763-1776
INTRODUCTION
Dementia has been a public health concern for several years. As the population continuously ages, the prevalence of dementia is projected to significantly rise, thus governments will face an increasing demand for support services. Unfortunately, dementia is not recognized as a major public health concern in the Philippines. As the extent of the dementia epidemic needs to be further delineated in the Philippines, and research on dementia is still limited, a larger study is needed to provide more information about the disease burden. This will raise awareness and inform policy makers about the necessity of social and health care reform in dementia care.
We aimed to collect uniform data from patients with cognitive impairment and determine the frequency of dementia and mild cognitive impairment in the study population. These data are crucial for providing information to policy makers in the country.
METHODS AND ANALYSISThis is a multi-center, prospective, observational, non-interventional study and standing database of patients clinically diagnosed with Mild Cognitive Impairment (MCI) or dementia seen at the participating training institutions. Corresponding anonymized data on demographics, medical history, risk factors, level of functional impairment, diagnosis, baseline cognitive scores and management will be collected from each patient and entered into the database using a secure online data collection tool. Collective data will be extracted, summarized and analyzed every year with oversight provided by the Philippine Neurological Association (PNA).
ETHICS AND DISSEMINATIONApproval from the ethics committees or institutional review boards (EC/IRB) was obtained from the Single Joint Research Ethics Board and all participating institutions.
The PNA1DB-Dementia initiative will be crucial in providing information to policy makers, to further enhance the implementation of the Mental Health Act. The dissemination of results will be conducted through scientific or public conferences and scientific journal publication.
TRIAL REGISTRATIONNCT05484960; ClinicalTrials.gov.
Human ; Dementia ; Database ; Philippines
10.Effect of Huayu Tongluo moxibustion on learning-memory ability in rats with vascular dementia based on hippocampal Mst1/NF-κB p65 pathway.
Ping WANG ; Jun YANG ; Yu KONG ; Yating ZHANG ; Yinqiu FAN ; Haiping SHI ; Lanying LIU
Chinese Acupuncture & Moxibustion 2025;45(1):53-60
OBJECTIVE:
To observe the effects of Huayu Tongluo (transforming stasis and unblocking collaterals) moxibustion on learning-memory ability and hippocampal mammalian sterile 20-like kinase 1 (Mst1)/nuclear factor κB (NF-κB) p65 pathway related to inflammatory response in rats with vascular dementia (VD).
METHODS:
A total of 60 male Wistar rats of SPF grade were randomly divided into a sham operation group (12 rats) and a modeling group (48 rats). VD model was established by the method of modified bilateral common carotid artery permanent ligation in the modeling group. Thirty-six rats with successful modeling were randomly divided into a model group, a moxibustion group and a western medication group, with 12 rats in each group. Huayu Tongluo moxibustion was applied at "Dazhui" (GV14), "Baihui" (GV20) and "Shenting" (GV24) in the moxibustion group, 20 min each time, once a day, 7 day-intervention was as one course, and 1 day-interval was taken between two courses, for a total of 3 courses. In the western medication group, piracetam was given 0.72 mg/kg by intragastric administration, twice a day, the course of intervention was same as that of the moxibustion group. The learning-memory ability was detected by Morris water maze test; the morphology of hippocampal CA1 region was observed by HE staining; the mRNA expression of Mst1, M1 microglia markers CD86, interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) was detected by real-time PCR; the levels of IL-6 and TNF-α in hippocampus were detected by ELISA; and the protein expression of Mst1 and NF-κB p65 in hippocampus was detected by Western blot in rats of each group.
RESULTS:
Compared with the sham operation group, the escape latency was prolonged in the model group (P<0.05); compared with the model group, the escape latency was shortened in the moxibustion group and the western medication group (P<0.05). The cells in the CA1 region of hippocampus were disordered, cell collapse and irregular nuclei could be observed in the model group; compared with the model group, the cell arrangement in the CA1 region of hippocampus was more regular, and the damage was improved in the moxibustion group and the western medication group. Compared with the sham operation group, the mRNA expression of Mst1, CD86, IL-6 and TNF-α, as well as the protein expression of Mst1, NF-κB p65 in hippocampus were increased in the model group (P<0.05). Compared with the model group, the mRNA expression of Mst1, CD86, IL-6 and TNF-α, as well as the protein expression of Mst1, NF-κB p65 in hippocampus were decreased in the moxibustion group and the western medication group (P<0.05). Compared with the sham operation group, the levels of IL-6 and TNF-α in hippocampus were increased in the model group (P<0.05). Compared with the model group, the levels of IL-6 and TNF-α in hippocampus were decreased in the moxibustion group and the western medication group (P<0.05).
CONCLUSION
Huayu Tongluo moxibustion can improve the learning-memory ability of VD rats, the mechanism may be related to regulating the activation of microglia through Mst1/NF-κB p65 pathway, reducing the release of pro-inflammatory factors i.e. IL-6 and TNF-α, so as to alleviating the damage of inflammatory factors in the hippocampus of VD rats.
Animals
;
Male
;
Rats
;
Moxibustion
;
Hippocampus/metabolism*
;
Rats, Wistar
;
Dementia, Vascular/genetics*
;
Memory/drug effects*
;
Humans
;
Transcription Factor RelA/genetics*
;
Learning
;
Protein Serine-Threonine Kinases/genetics*
;
Acupuncture Points
;
Interleukin-6/genetics*
;
Signal Transduction/drug effects*
;
Drugs, Chinese Herbal


Result Analysis
Print
Save
E-mail