Introduction
Alzheimer’s disease (AD) is a progressive neurodegenerative disorder that affects millions of people worldwide. The disease is characterized by the deposition in the brain of amyloid-β (Aβ) plaques and neurofibrillary tangles, mainly composed of hyperphosphorylated tau (p-tau), leading to cognitive decline and functional impairment. Posterior cortical atrophy (PCA) is a rare variant of AD that mainly affects the posterior regions of the brain, causing visual and spatial deficits, alexia, and apraxia.
Case Presentation
A 52-year-old right-handed woman, presented with complaints of deficits in spatial perception, simultanagnosia, acalculia, and agraphia.
Physical Examination
- The patient underwent a neurological and neuropsychological evaluation, which indicated constructive apraxia and reduced visual-spatial abilities, associated with mild majestic and attentional deficit.
- Structural and metabolic neuroimaging examinations of the brain showed a predominantly posterior pattern atrophy and marked, left predominant hypometabolism in the occipital, parietal, and temporal regions.
- A clinical-radiological diagnosis of PCA was then made.
Family History
- The patient had a family history of presenile dementia, as the patient’s mother died with severe dementia at the age of 59 years after a clinical history of eight years.
Clinical Examination
- The patient experienced difficulty in performing her job properly due to deficits in spatial perception, simultanagnosia, acalculia, and agraphia.
- The patient developed progressive memory loss associated with other symptoms of cognitive decline.
Treatment
- Acetylcholinesterase inhibitor (Donepezil) and Memantine therapy were started.
Conclusion
The present study confirms the importance of genetic analysis in patients with early-onset AD and expands the clinical phenotype associated with PSEN1 mutations.