Cerebrospinal fluid (CSF) biomarkers for Alzheimer’s disease (AD) are essential for the early identification of non-amnestic phenotypes. Increased levels of total tau (t-tau) and phosphorylated tau (p-tau) have been reported in atypical AD cases, although the specific pattern remains a subject of debate. This study aimed to evaluate CSF biomarker profiles in relation to clinical phenotype.

A retrospective review was performed, analyzing demographic data, time to diagnosis, clinical phenotype, and core AD biomarkers (beta-amyloid peptide 1-42 (Aβ1-42), t-tau, p-tau) in CSF from patients evaluated at University Hospital in Navarra between 2019 and 2022.

The study included 57 patients (54% female, mean age 67 years), of whom 41 met AD diagnostic criteria. Among these, 10 patients (25%) presented with atypical phenotypes (50% aphasic, 30% frontal, 20% mixed non-amnestic). Compared with the amnestic phenotype, the atypical group exhibited significantly higher t-tau (562.9 pg/mL vs 320.3 pg/mL, p = 0.021) and p-tau (81.5 pg/mL vs 37.7 pg/mL, p = 0.016) levels, independent of age, sex, and time to diagnosis.

Atypical cases demonstrated increased tau levels, suggesting earlier and more extensive cortical damage than the amnestic phenotype. These findings underscore the significance of CSF biomarkers in phenotypic differentiation, disease course prediction, and individualized treatment strategies for AD.

There are many variables to consider when withdrawing anti-epileptic seizure treatment and risk-benefit evaluation is required.

Retrospective study of patients from a neuropediatric clinic who were discontinued from pharmacological treatment for epilepsy and continued without treatment.

Of 57 children from whom treatment was withdrawn, 34 remained without treatment. In 23 cases, treatment was withdrawn once, with a mean seizure-free time until withdrawal of 21 months and a mean age of 10.5 years. Three cases presented seizures but treatment was not reintroduced; the average time without a crisis was 44.78 months. Treatment was withdrawn twice in nine children and three times in two children, with a mean seizure-free time until withdrawal of 28.5 months; the average age was 16.3 years. Two cases presented seizures but treatment was not reintroduced; the average time without a crisis was 5.7 years. High-risk cases of recurrent epileptic seizures were left without anti-seizure medication: seven cases of intellectual disability, one refractory epilepsy, two cases of epilepsy with onset in adolescence, and in 11 children, 13 instances of failure in previous withdrawal attempts.

The indication and maintenance of treatment with anti-seizure drugs in children must prioritize patient welfare and be based on three premises: the treatment is indicated, the treatment is tolerated, and the treatment is effective. The decision to withdraw must be made on a case-by-case basis, acknowledging the risk of relapse and taking into account efficacy and tolerance, especially in children with behavioral and neurodevelopmental disorders.