Early-onset Alzheimer's: presentation and follow-up of two clinical cases

DIANA BRUNO; LUCIANA VITA; FERNANDO MARQUEZ; M. BEATRIZ BISTUÉ MILLÓN,; MARTIN A. BRUNO

Florida

Simposio; Latinos & Alzheimer; 2022

Alzheimer Association USA

Background: The early onset of familial AD is usually before the age of 50 and represents less than 5% of affected individuals, presenting initial symptoms very similar to the sporadic form, although with a more aggressive presentation. The objective of the work is to present two clinical cases of early-onset AD with a similar presentation.Methods: Cognitive test: ACE and IFS. Images analysis: PET-CT (amyloid) and RMNResults: Case 1: EB, 56-year-old patient, with university education, without children. She begins with amnesic complaints at the age of 47. At age 50, ACE-R 84/100 and IFS 23/30, brain MRI reported as normal. In the psychiatric evaluation, a personality disorder is ruled out. At 52 years old, ACE-III 80/100 and IFS 21/30, brain MRI reported normal, EEG normal, PET compatible with DTA. At 54 years of age, her symptoms worsened with an impact on daily activities, adding visual perceptual failures and loss of smell, ACE-III 66/100 and IFS 19.5. At 56, total loss of autonomy and independence, ACE-III 31/100 and IFS 5.5/30.Case 2: EB, 56-year-old patient, with university education, without children. Amnesic complaints, disorientation started at the age of 47. At age 50, ACE-R 84/100 and IFS 23/30, brain MRI reported normal. At 52, she was cognitively re-evaluated with an ACE-III 80/100 and IFS 21/30, brain MRI reported normal, EEG normal, PET compatible with DTA. At 54 years of age, daily activities affected, adding visual-perceptual failures and loss of smell, ACE-III 66/100 and IFS 19.5. At 56 years of age, total loss of autonomy and independence, ACE-III 31/100 and IFS 5.5/30Conclusion: The two cases presented (without a history of dementia in at least two previous generations) with a similar age of onset, symptoms and progression allow us to make visible a rare pathology in the reference age group. The results of the genetic studies will allow us to confirm the diagnosis and at the same time confront us with the challenge of genetic counseling for relatives.