Study design and baseline characteristics of a population-based prospective cohort study of dementia in Japan: the Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD)

BACKGROUND@#The burden of dementia is growing rapidly and has become a medical and social problem in Japan. Prospective cohort studies have been considered an effective methodology to clarify the risk factors and the etiology of dementia. We aimed to perform a large-scale dementia cohort study to elucidate environmental and genetic risk factors for dementia, as well as their interaction.@*METHODS@#The Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD) is a multisite, population-based prospective cohort study of dementia, which was designed to enroll approximately 10,000 community-dwelling residents aged 65 years or older from 8 sites in Japan and to follow them up prospectively for at least 5 years. Baseline exposure data, including lifestyles, medical information, diets, physical activities, blood pressure, cognitive function, blood test, brain magnetic resonance imaging (MRI), and DNA samples, were collected with a pre-specified protocol and standardized measurement methods. The primary outcome was the development of dementia and its subtypes. The diagnosis of dementia was adjudicated by an endpoint adjudication committee using standard criteria and clinical information according to the Diagnostic and Statistical Manual of Mental Disorders, 3rd Revised Edition. For brain MRI, three-dimensional acquisition of T1-weighted images was performed. Individual participant data were pooled for data analyses.@*RESULTS@#The baseline survey was conducted from 2016 to 2018. The follow-up surveys are ongoing. A total of 11,410 individuals aged 65 years or older participated in the study. The mean age was 74.4 years, and 41.9% were male. The prevalence of dementia at baseline was 8.5% in overall participants. However, it was 16.4% among three sites where additional home visit and/or nursing home visit surveys were performed. Approximately two-thirds of dementia cases at baseline were Alzheimer's disease.@*CONCLUSIONS@#The prospective cohort data from the JPSC-AD will provide valuable insights regarding the risk factors and etiology of dementia as well as for the development of predictive models and diagnostic markers for the future onset of dementia. The findings of this study will improve our understanding of dementia and provide helpful information to establish effective preventive strategies for dementia in Japan.

Exploratory analysis of rare and novel variants in Mexican patients diagnosed with schizophrenia and dementia

Abstract Background Schizophrenia (SCZ) and dementia, often related, are two of the most common neuropsychiatric diseases; epidemiological studies have shown that SCZ patients present a 2-fold increased risk for dementia compared to non-schizophrenic individuals. We explored the presence of rare and novel damaging gene variants in patients diagnosed with late-onset dementia of Alzheimer’s type (DAT) or SCZ. Methods We included 7 DAT and 12 SCZ patients and performed high-depth targeted sequencing of 184 genes. Results We found novel and rare damaging variants in 18 genes in these Mexican patients. Carriers of these variants showed extreme phenotypes, including, treatment-resistant SCZ or cognitive decline. Furthermore, we found a variation on ABCC1 as a possible link between psychosis and cognitive impairment. Discussion As an exploratory analysis, we report some interesting variations that should be corroborated in larger sample size studies.

Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial / Psycothic syndrome developing into dementia as a clinical manifestation of mitochondrial DNA deletion

As manifestações das doenças mitocondriais são variadas, acometendo, mais freqüentemente, órgãos com alto metabolismo aeróbico em que são mais abundantes, como, por exemplo, o sistema nervoso. O início dos sintomas em geral é observado na infância havendo relatos de início na idade adulta. Apresentamos caso atípico de doença mitocondrial associada à deleção do DNA mitocondrial em um homem de 39 anos com sintomas psiquiátricos configuraram quadro clínico inicial e somente 12 anos após o início dos sintomas surgiram alterações neurológicas. O diagnóstico da doença mitocondrial foi confirmado por biópsia de músculo sendo documentada deleção do DNA mitocondrial.

The manifestations of mitochondrial disease are variable, affecting more frequently the organs with high aerobic metabolism in which they are more abundant, for example the nervous system. The beginning of symptoms in general is observed at chilhood, but some patients presented on adult age. We present an atypical case associated with mitochondrial DNA deletion. A 39-years-old man with psychiatric symptoms that configured initial clinical picture and only after 12 years of the beginning of symptoms neurological alterations became noticeable. The diagnosis of mitochondrial illness was confirmed by muscle biopsy being documented mitochondrial DNA deletion.

Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

OBJECTIVE: To compare the clinical features of a familial prion disease with those of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). BACKGROUND: Prion diseases are not usually considered in the differential diagnosis of FTDP-17, since familial Creutzfeldt-Jakob disease (CJD), the most common inherited prion disease, often manifests as a rapidly progressive dementia. Conversely, FTDP-17 usually has an insidious onset in the fifth decade, with abnormal behavior and parkinsonian features. METHOD: We present the clinical features of 12 patients from a family with CJD associated with a point mutation at codon 183 of the prion protein gene. RESULTS: The mean age at onset was 44.0 Ý 3.7; the duration of the symptoms until death ranged from two to nine years. Behavioral disturbances were the predominant presenting symptoms. Nine patients were first seen by psychiatrists. Eight patients manifested parkinsonian signs. CONCLUSION: These clinical features bear a considerable resemblance to those described in FTDP-17

Experience of ApoE study in Thai elderly.

The association between ApoE E4 and dementia is reported in Alzheimer's disease and other dementia such as in multi-infarct dementia. OBJECTIVES: To examine the association between apolipoprotein E genotype (ApoE) and dementia in Thai elderly and patients to examine the alleles frequencies of ApoE in a Thai population. MATERIAL AND METHOD: Seventy-eight cases and ninety-four controls from a community based population were recruited. Their ages were all over 50 years. Dementia was diagnosed by DSM IV criteria. Blood was taken and stored for DNA extraction and for restriction enzyme analysis of ApoE genotype. Descriptive analysis and odds ratios from SPSS 9.0 program were used in this study. RESULTS: Alleles frequencies of ApoE E2, E, E4 in normal controls were 0.03, 0.80, 0.17 and alleles frequencies of ApoE E3, E4 in dementia subjects were 0.71 and 0.29, respectively. Odds ratios for dementia risk of apolipoprotein genes were as follows: 0.62 for ApoE E3 and 1.98 for ApoE E4. In this study, forty-two dementia subjects had Alzheimer's disease. Fifty nine point five per cent of Alzheimer's disease subjects carried ApoE E4 (positive predictive value is 0.60). CONCLUSION: Thai elderly carry ApoE genotype distribution similar to that reported in other ethnic groups. Bearing ApoE E4 gene increases the risk of developing dementia. The use of ApoE genotyping can only be a diagnostic adjunct for Alzheimer's disease.

Nova variante do gene do prionio em uma familia psicotica / New variant of the prion protein gene in a psychotic family

As doencas de prionio sao caracterizadas pelo acumulo no cerebro da PrP-sc, uma proteina prionica infectante e protease resistente. A Prp-sc difere da PrP-c, de funcao desconhecida, apenas em termos conformacionais. As doencas humanas de prionio conhecidas sao Kuru, Gertsman Straussler (GSS), Insonia Familiar Fatal(IFF) e doencas de Creutzfeldt-Jakob (CJD)...

Demencia: Psicopatologia y Perfusión Cerebral / Dementia: Psychopathology and Brain Perfusion

El desarrollo primigenio del cerebro empieza del ectodermo con la histogenesis del palio (corteza),cuya pared en los primeros dos meses de gestacion permanece sumamente delgada y esta compuesta por solo 3 capas, pero hacia el termino del segundo mes se inicia una migracion de celulas de la capa del manto hacia la zona marginal formando la substancia gris: la corteza cerebral. Las células se van organizando en varias capas horizontales las cuales llegan al número de 6 en el sexto mes de gestación. Desde estas circunstancias el cerebro estructura se convierte en cerebro función a lo largo de toda la vida. Las áreas estructurales descritas por Brodman (47 áreas) y las descritas por Von Economo (109 áreas 5-tipos), se intentan correlacionar con la fución cerebral en los trastornos neuropsiquiátricos a la luz de los conocimientos actuales y de nuestra experiencia. Proponemos una teoría estructuro-funcional en la psicopatología de la demencia

Estudios de la asociación genética de la apolipoproteína E con la longevidad, el deterioro cognoscitivo y la demencia / The association of apolipoprotein E with longevity, cognitive impairment and dementia

Las investigaciones recientes sugieren que el envejecimiento y el deterioro cognoscitivo son resultado de los cambios en la información a nivel molecular. Así, se han formulado teorías genéticas que han intentado explicar la pérdida neuronal que se produce con la edad. Sin embargo, un hallazgo reciente ha abierto un nuevo camino en esta área. Se trata de la asociación que hay entre el genotipo molecular de la apolipoproteína E (ApoE) y el aumento del riesgo de padecer demencia senil de tipo Alzheimer. La ApoE es una glicoproteína producida por una variedad de tejidos en el organismo, particularmente en el hígado y el cerebro, que interviene en el transporte y metabolismo de los lípidos, coordinando la movilización y redistribución del colesterol en los procesos de reparación de las membranas neuronales. Se ha estudiado cuál es su papel en el metabolismo de las lipoproteínas en el sistema nervioso y su importancia en la plasticidad cerebral. La presente revisión tiene por objeto describir la función de la ApoE en el metabolismo de los lípidos y por medio de su efecto biológico, profundizar en la relación de su genotipo molecular con la longevidad, el deterioro cognoscitivo y la demencia