Associations of Cerebrovascular Metabolism Genotypes With Neuropsychiatric Symptoms and Age at Onset of Alzheimer's Disease Dementia

Objective: To study associations of cerebrovascular metabolism genotypes and haplotypes with age at Alzheimer’s disease dementia (AD) onset and with neuropsychiatric symptoms according to each dementia stage. Methods: Consecutive outpatients with late-onset AD were assessed for age at dementia onset and Neuropsychiatric Inventory scores according to Clinical Dementia Rating scores, apolipoprotein E gene (APOE) haplotypes, angiotensin-converting enzyme gene (ACE) variants rs1800764 and rs4291, low-density lipoprotein cholesterol receptor gene (LDLR) variants rs11669576 and rs5930, cholesteryl ester transfer protein gene (CETP) variants I422V and TaqIB, and liver X receptor beta gene (NR1H2) polymorphism rs2695121. Results: Considering 201 patients, only APOE-ɛ4 carriers had earlier dementia onset in multiple correlations, as well as less apathy, more delusions, and more aberrant motor behavior. Both ACE polymorphisms were associated with less intense frontally mediated behaviors. Regarding LDLR variants, carriers of the A allele of rs11669576 had less anxiety and more aberrant motor behavior, whereas carriers of the A allele of rs5930 had less delusions, less anxiety, more apathy, and more irritability. CETP variants that included G alleles of I422V and TaqIB were mostly associated with less intense frontally mediated behaviors, while severely impaired carriers of the T allele of rs2695121 had more anxiety and more aberrant motor behavior. Conclusion: Though only APOE haplotypes affected AD onset, cerebrovascular metabolism genotypes were associated with differences in several neuropsychiatric manifestations of AD.

Is there correlation between cognition and functionality in severe dementia? The value of a performance-based ecological assessment for Alzheimer’s disease / Há correlação entre cognição e funcionalidade na demência grave? Utilidade da avaliação ecológica baseada no desempenho para a doença de Alzheimer

Objective Besides significant cognitive decline, patients in later stages of Alzheimer's disease (AD) also present global functional impairment, usually reported by their caregivers. This study searched for preserved activities of daily living by investigating correlations among specific instruments for severe dementia with a performance-based functional scale. Method A sample of 95 moderate to severe AD patients and their caregivers underwent a neuropsychological battery consisting of screening tools, the Functional Assessment Staging Test (FAST), the Severe Mini-Mental State Examination (MMSEsev) and a performance-based ecological scale, the Performance Test of Activities of Daily Living (PADL). Results Consistent findings emerged from the comparisons among tests. PADL showed significant statistical correlation with MMSEsev (ρ<0.001), according to FAST subdivisions. Conclusion Upon suspicion of unreliable caregiver reports, ecological scales may be useful for disease staging. Variable degrees of functionality and cognition may be present even in later stages of AD, requiring proper assessment. .

Objetivo Além do significativo declínio cognitivo, pacientes em estágios avançados da doença de Alzheimer (DA) também apresentam prejuízo funcional global. Este estudo investigou atividades de vida diária correlacionando teste específico para a demência grave, com escala funcional baseada no desempenho. Método 95 pacientes com DA foram submetidos a uma bateria neuropsicológica composta por instrumentos de rastreio, a escala Functional Assessment Staging Test (FAST), o Mini-exame do Estado Mental grave (MEEMg) e escala ecológica baseada no desempenho: a Performance Test of Activities of Daily Living (PADL). Resultados Achados consistentes emergiram da comparação entre os instrumentos. De acordo com as subdivisões da escala FAST, a PADL apresentou significativa correlação estatística com o MEEMg (ρ<0.001). Conclusão Na suspeita de relato pouco confiável por parte do cuidador, escalas ecológicas podem ser úteis no estadiamento da doença. Igualmente à cognição, variados graus de funcionalidade estão presentes mesmo em fases avançadas da DA, exigindo avaliação adequada. .

Short-term prognosis for speech and language in first stroke patients / Prognóstico em curto prazo para fala e linguagem em pacientes acometidos de infarto cerebral único

OBJECTIVE: To evaluate the factors that can influence evolution of communication after a first stroke. METHOD: Thirty-seven adult patients were evaluated for speech and language within 72 hours after a single first-ever ischemic brain injury and later on. Patients who were comatose, with decompensated systemic diseases, or history of chronic alcoholism or illicit drug use were not included. Brain CT and/or 2T-MR exams were solicited for topographic correlation. Size of infarct was classified as large or small according to the TOAST classification. RESULTS: Patients who survived had lesser chances of presenting with aphasia or dysarthria 3 months after the stroke if the infarct size was small (p=0.017). Gender, age, schooling, aphasia subtype, infarct side and topography were non-significant in our sample. Subjects with global aphasia or lone cortical dysarthria had a slower evolution. CONCLUSION: Brain injury size was the most influential factor for neurological outcome at 3 months post-stroke.

OBJETIVO: Avaliar os fatores que podem influenciar o desempenho neurolinguístico após um primeiro acidente vascular cerebral isquêmico. MÉTODO: Foram avaliados 37 pacientes quanto a fala e linguagem dentro de 72 horas após um primeiro infarto cerebral e posteriormente. Pacientes comatosos, com doenças sistêmicas descompensadas, história de etilismo crônico ou uso de drogas ilícitas não foram incluídos. TC e/ou RMN-2T cerebrais foram solicitadas para correlação topográfica. Utilizou-se a classificação TOAST para o tamanho do infarto (grande ou pequeno). RESULTADOS: Sobreviventes tiveram menores chances de apresentarem-se afásicos ou disártricos 3 meses após o evento agudo caso o infarto fosse pequeno (p=0.017). Gênero, idade, escolaridade, subtipo de afasia, lado e topografia da lesão cerebral não foram fatores estatisticamente significativos. Pacientes portadores de afasia global ou disartria cortical isolada evoluíram mais lentamente. CONCLUSÃO: O tamanho da lesão cerebral foi o fator mais influente para o desempenho neurolinguístico 3 meses após o evento agudo.