Seizure Susceptibility in Alzheimer's Disease
Departamento de Anatomía, Histología y Neurociencia, Facultad de Medicina, Universidad Autónoma de Madrid, Spain
Why This MattersEpileptic seizures occur approximately 8× more frequently in Alzheimer's patients than in the general population. This review argues that routine EEG — currently absent from standard clinical practice — could enable earlier diagnosis and better tracking of cognitive deterioration.
Epileptic seizures in Alzheimer's disease (AD) patients are rare but approximately 8 times more common than in the general age-matched population. Experimental and clinical studies have suggested the epileptogenic potential of Aβ as a principal responsible for the epileptic-like discharges and cognitive decline observed in AD. An increase in cortical excitability has been demonstrated in AD animal models due to an imbalance of excitatory/inhibitory synaptic transmission. Cortical hyperexcitability has also been demonstrated in the human EEG by the presence of a high proportion of fast oscillatory activities. The EEG analysis in AD is not a standard clinical procedure — yet seizures and electroencephalographic abnormalities are commonly found in AD patients. EEG studies could help enable early diagnosis and inform about disease evolution and cognitive deterioration.
A Novel Myelin Protein Zero (V136G) Homozygous Mutation Causing Late-Onset Demyelinating Polyneuropathy with Brain White Matter Lesions
Department of Clinical Neurophysiology, Hospital Ramón y Cajal, Madrid, Spain · DOI: 10.1016/j.clineuro.2010.10.015
Why This MattersA previously unreported MPZ gene mutation producing a distinctive late-onset demyelinating profile — published from Hospital Ramón y Cajal. Dr. Elizabeth's early clinical contribution to understanding rare neuromuscular genetic disorders, conducted at the highest level of Spanish institutional medicine.
Although less common than peripheral myelin protein 22 (PMP22) duplication, there are mutations in myelin protein zero (MPZ) responsible for Charcot-Marie-Tooth disease (CMT) with a number of different clinical profiles. We report here a novel MPZ homozygous mutation with a peculiar pattern characterised by a late-onset demyelinating profile. The patient also presented brain white matter lesions seemingly ascribable to the mutation. This case highlights the importance of comprehensive neurophysiological and neuroimaging assessment in atypical presentations.
Seizure Susceptibility in the APP/PS1 Mouse Model of Alzheimer's Disease and Relationship with Amyloid β Plaques
Departamento de Anatomía, Histología y Neurociencia, Facultad de Medicina, Universidad Autónoma de Madrid, Spain · DOI: 10.1016/j.brainres.2017.09.026
Why This MattersOriginal experimental research using the APP/PS1 transgenic mouse model to directly investigate the relationship between amyloid β plaques and seizure susceptibility in Alzheimer's disease. This is the foundational laboratory work that underpins the 2021 clinical review — demonstrating that Aβ accumulation measurably increases seizure risk. Published in Brain Research (Elsevier), PMID: 28963050.
This study investigated seizure susceptibility in the APP/PS1 transgenic mouse model of Alzheimer's disease and its relationship with amyloid β plaque burden. The APP/PS1 model develops progressive amyloid pathology comparable to human Alzheimer's disease. Findings demonstrate that Aβ accumulation correlates with increased cortical excitability and seizure susceptibility, providing experimental evidence for the epileptogenic potential of amyloid pathology. This work establishes an important mechanistic link between Aβ plaque deposition and the neurophysiological changes that increase seizure risk in Alzheimer's disease, with direct implications for clinical EEG monitoring and early intervention strategies.
Research Areas
Neurodegenerative Disorders
Alzheimer's, seizure susceptibility, cortical excitability, EEG biomarkers for early cognitive decline.
Neuromuscular Disease
Rare genetic mutations, MPZ-related polyneuropathies, Charcot-Marie-Tooth, EMG diagnostics.
Brain Health & Precision Medicine
Preventive neurology, cognitive reserve, neuroplasticity optimisation, science-based precision medicine.
AI in Neurophysiology
AI-assisted diagnosis, evidence synthesis, EU health systems, digital neuromodulation.
Sleep Medicine
Sleep disorder neurophysiology, polysomnography evaluation, impact of sleep on cognitive health.
Neuromodulation · TMS
Non-invasive brain stimulation, TMS protocols, clinical applications in neurological disorders.