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Updated: Jun 12, 2026
06:02
Detection of Neuritic Plaques in Alzheimer's Disease Mouse Model
Published on: July 26, 2011
Atypical Alzheimer's disease: a case report
Francesco Iemolo1, Tiziana Cavallaro, Nicolò Rizzuto
1Department of Neurology, Hospital R.Guzzardi, Vittoria, Ragusa, Italy.
Summary
This study details an unusual early-onset Alzheimer's disease case with seizures and cognitive decline. Pathological findings revealed "Pick-like" atrophy and amyloid plaques, despite negative genetic testing for Presenilin mutations.
Area of Science:
- Neurology
- Neuroscience
- Pathology
Background:
- Alzheimer's disease (AD) typically presents later in life.
- Genetic mutations, particularly in Presenilin 1 and 2 (PSEN1/2), are common in early-onset AD.
- This case presents atypical features challenging typical AD diagnostic criteria.
Observation:
- An unusual case of early-onset Alzheimer's disease (AD) was observed.
- The patient exhibited myoclonus, generalized tonic seizures, and pseudo-periodic spikes on electroencephalogram (EEG).
- No family history of dementia was reported.
Findings:
- The patient experienced 8 years of progressive cognitive deterioration.
- Pathological examination revealed "Pick-like" cerebral atrophy, neurofibrillary tangles, senile plaques, congophilic angiopathy, and cerebellar amyloid plaques.
- Genetic analysis excluded mutations in PSEN1 and PSEN2 genes.
Implications:
- This case highlights the phenotypic variability within early-onset Alzheimer's disease.
- The presence of "Pick-like" features and amyloid angiopathy in the context of AD warrants further investigation.
- The findings underscore the importance of detailed pathological examination in atypical neurodegenerative cases, even without clear genetic markers.
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