Affiliations: [a] Clinical Neurophysiology, Department of Neurosciences, Ophthalmology and Genetics, University of Genoa, Genoa, Italy | [b] III Laboratory/Biotechnology Department of Diagnostic of Laboratories – A.O. Spedali Civili Brescia, Brescia, Italy | [c] Unit of Geriatric Medicine, Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy | [d] Department of Neurology, San Martino Hospital, Genoa, Italy | [e] Nuclear Medicine, Department of Internal Medicine, University of Genoa, Genoa, Italy | [f] Institute of Molecular Bioimaging and Physiology, National Research Council, Genoa, Italy
Correspondence:
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Correspondence to: Flavio Nobili, Clinical Neurophysiology Department of Neurosciences, Ophthalmology and Genetics, University of Genoa, Genoa, Italy, Tel.: +39 0103537568; Fax: +39 0105556893; E-mail: flaviomariano.nobili@hsanmartino.it.
Abstract: This study describes late-onset Alzheimer's disease (LOAD) in the mild cognitive impairment (MCI) stage, debuting with seizures in a 72 year-old woman. Prodromal AD was consistently diagnosed with four among amyloidosis and neurodegeneration biomarkers about 1 year after onset of seizures. Genetic assessment demonstrated apolipoprotein E ε2/ε3 genotype and three intronic single nucleotide substitutions, two in presenilin 1 and one in amyloid-β protein precursor genes. This case of seizures at onset of LOAD with severe signs of brain amyloidosis and neurodegeneration but with just MCI leads to a re-appraisal of the intriguing relationship between AD pathology and neuron excitability in humans.
Keywords: Alzheimer's disease, amyloid-β protein precursor, biological markers, presenilins, seizures
