Brain, Alzheimer’s disease with presenilin 1 mutation [LMP67908]

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Diagnostic Modality: 
Whole Slide Image
Disease Category: 
Genetic Disorders
Diagnosis: 
Alzheimer’s disease with presenilin 1 mutation
Species: 
Human
Organ System: 
Central Nervous System
Gender: 
Male
Age: 
55 years
Diagnosis Code: 
ICD-10: G30
Slide Contributor Information
Gao, A., Keith, J.

Keywords

AD, PSEN1, neurodegenerative disease

Clinical History

Patient presented with memory difficulties at the age of 40 and ultimately diagnosed with Alzheimer’s disease. Family history includes father, brother, and sister affected by Alzheimer’s disease.

Clinical Discussion

Alzheimer’s disease (AD) is the most common neurodegenerative disease and in the majority of cases, occurs sporadically in the elderly. Early onset (<age 65) familial AD is most commonly caused by mutations in amyloid precursor protein, presenilin 1 (this case), or presenilin 2. Microscopically, AD is characterized by neuronal loss, gliosis, and accumulation of amyloid plaques and neurofibrillary tangles. In this case, there is an abundance of “cotton wool” plaques: large, homogenous, eosinophilic amyloid plaques easily identifiable on H&E and highlighted by beta-amyloid immunohistochemistry (see Related Content). This type of plaque is closely associated with presenliin 1 mutations.

Related Content

Beta-amyloid immunohistochemistry