A Case of Early-Onset Alzheimer’s Disease Mimicking Schizophrenia in a Patient with Presenilin 1 Mutation (S170P)

Atypical psychological symptoms frequently occur in early-onset Alzheimer’s disease (EOAD), which makes it difficult to differentiate it from other psychiatric disorders. We report the case of a 28-year-old woman with EOAD, carrying a presenilin-1 mutation (S170P), who was initially misdiagnosed with schizophrenia because of prominent psychiatric symptoms in the first 1–2 years of the disease. Amyloid-β positron emission tomography (PET) showed remarkably high tracer uptake in the striatum and thalamus. Tau PET showed widespread cortical uptake and relatively low uptake in the subcortical and medial temporal regions. Our case advocates for considering EOAD diagnosis for young patients with psychiatric and atypical cognitive symptoms.

Gene therapy may target APOE for Alzheimer's disease

Alzheimer's disease is America's most costly, costing $305 billion annually. The few approved medicines give modest clinical alleviation without effectively slowing disease progression. Exploring many experimental treatments. The major amyloid-based strategies were to improve clearance using antibodies (passive or active immunization) or to restrict the production of A by blocking-secretase (the N-terminus-generating enzyme) Each of these techniques proved technically challenging and clinical investigations were limited by the inability to detect AD ante mortem favorably and changing, subjective, clinical goals. The U.S. Food and Drug Administration has encouraged Aducanumab to apply to the FDA for amylidoid-related plaques in Alzheimer's patients.The objective is to detect early patients, increase dose, and fine-tune pharmacological properties to better therapy. The lone exception is Biogen's aducanumab, which binds aggregated A and, given early in the course of Alzheimer's disease in sufficient amounts, clears amyloids and may provide some cognitive protection. Aducanumab and other amyloid therapies must be shown to be safe and cost-effective before being extensively utilized in at-risk groups. An individual with the Paisa presenilin-1 mutation exhibits this mechanistic approach. This woman has substantial amyloid deposition in her fifties, yet is essentially symptom-free. She is homozygous with the APOE gene R163S Christchurch polymorphism (APOE3ch). APOE is a lipoprotein found in HDL-like particles in the brain.