Table 1 Timeline: Clinical progression, cognitive evaluations, imaging studies, and treatment (2010–2022)
From: Case of early onset Alzheimer’s disease associated with a novel PSEN1 variant identified in Colombia
Year | 2010 | 2011 | 2012 | 2015 | 2017 | 2019 | 2021 | 2022 |
|---|---|---|---|---|---|---|---|---|
Age (years) | 46 | 47 | 48 | 51 | 53 | 55 | 57 | 58 |
Symptoms | Onset with memory deficits, temporal disorientation, disorganized behavior, paranoia. | Previous cognitive and behavioral deficits persisted and progressed; new symptoms included disorganized behavior, social withdrawal, and irritability. | Ongoing progression of prior symptoms; new symptom: depressive thoughts. | Cognitive and behavioral symptoms continued to worsen; new symptoms: anxiety, motor restlessness, apathy, aggressiveness. | Progressive decline with persistence of previous symptoms; new symptom: seizures. | Continued deterioration; new symptom: bradykinesia. | Ongoing progression, more apathy and irritability. | Severe global impairment with persistence of prior deficits; new symptoms: appetite disturbances and loss of sphincter control. |
Global cognition | _ | _ | CDR 0.5, MMSE 24/30, FBI 1/24, Neuropsychology assessment: Memory and executive deficits. | CDR 1, MMSE 18/30 | CDR 2, MMSE 10/30 | CDR2, Neuropsychology assessment: Memory and executive deficits. | CDR3, MMSE 5/30 | CDR 3 GDS-FAST 7 MoCA 0/30 |
Exams | _ | Brain CT, EEG | Brain MRI, Brain SPECT, Laboratory testing | _ | _ | _ | _ | Laboratory testing, Whole genome |
Treatment | _ | _ | Sertraline, Rivastigmine | Donepezile, Memantine, Haloperidol | Donepezile, Memantine, Olanzapine, Levetiracetam | Donepezile, Memantine, Olanzapine, Levetiracetam | Donepezile, Memantine, Olanzapine, Levetiracetam | Donepezile, Memantine, Olanzapine, Levetiracetam |
