Very Early-Onset Alzheimer's Disease in the Third Decade of Life with de novo PSEN1 Mutations.

Mutations in Presenilin-1 (PSEN1) have been found to be associated with very early onset Alzheimer's disease (VEOAD). Here, we reported two patients with VEOAD caused by de novo PSEN1 mutations. A 33-year-old man with a de novo p.F177S mutation in PSEN1 presented with progressive decline in memory and daily function. A 37-year-old woman with a de novo PSEN1 p.L381V mutation presented with onset memory impairment, developed cerebellar syndrome, rigidity, and spastic paraparesis. The Amyloid/Tau/Neurodegeneration (ATN) biomarker profiles of both patients were A + T + (N)+. Our finding increases the genetic knowledge of VEOAD and extends the ethnic distribution of PSEN1 mutations.

Predictors of Cognitive Impairment After Stroke: A Prospective Stroke Cohort Study.

BACKGROUND: Post-stroke cognitive impairment (PSCI) significantly affects stroke survivors' quality of life and rehabilitation. A risk model identifying cognitive decline at admission would help to improve early detection and management of post-stroke patients. OBJECTIVE: To develop a new clinical risk score for ischemic stroke survivors in predicting 6-12 months PSCI. METHODS: We prospectively enrolled 179 patients diagnosed with acute ischemic stroke within a 7-day onset. Data were analyzed based on baseline demographics, clinical risk factors, and radiological parameters. Logistic regression and area under the receiver operating curve (AUROC) were used to evaluate model efficiency. RESULTS: One hundred forty-five subjects completed a 6-12-month follow-up visit, and 77 patients (53.1%) were diagnosed with PSCI. Age (ß= 0.065, OR = 1.067, 95% CI = 1.016-1.120), years of education (ß= -0.346, OR = 0.707, 95% CI = 0.607-0.824), periventricular hyperintensity grading (ß= 1.253, OR = 3.501, 95% CI = 1.652-7.417), diabetes mellitus (ß= 1.762, OR = 5.825, 95% CI = 2.068-16.412), and the number of acute nonlacunar infarcts (ß= 0.569, OR = 1.766, 95% CI = 1.243-2.510) were independently associated with 6-12 month PSCI, constituting a model with optimal predictive efficiency (AUC = 0.884, 95% CI = 0.832-0.935). CONCLUSIONS: The optimized risk model was effective in screening stroke survivors at high risk of developing 6-12 months PSCI in a simple and pragmatic way. It could be a potential tool to identify patients with a high risk of PSCI at an early stage in clinical practice after further independent external cohort validation.