CASE REPORT: HETEROZYGOUS APP A713T MUTATION CARRIER WITH INFLAMMATORYAMYLOID ANGIOPATHYAND FAMILY HISTORY OF AD: FIRST CASE IN ARGENTINA

RUSSO, G.; RAMIREZ, A; DALMASSO MC; MORELLI, L.; FERNANDEZ SUAREZ, M.; OLIVAR, N; BRUSCO, LI

Londres

Congreso; AAIC 2017 London; 2017

Alzheimer Associtaion

Background: APP A713T mutation has been related to presenile AD and amyloid angiopathy related cerebrovascular disease, however, the relationship between the clinical presentation and the presence of one or two mutant alleles is still under discussion. Some series of cases has described asymptomatic carriers but they described young subjects and short follow up. As far as we know, this is the first case reported in Argentina. Methods: review of clinical record and neuroimaging. DNA extracted from a saliva sample. PSEN1, PSEN2 and APP analysis using Sanger?s method. Results:A male patient of 71 year old was evaluated in the neurology clinic. Past medical history showed that from the age of 67 he developed recurrent lobar hemorrhagic strokes leading to major cognitive decline. Only during the first year of disease he received an 8-months course of oral steroids. Patient?s mother suffered from a presenile dementia (<65 year old) diagnosed as Alzheimer?s disease. No other relatives were referred as affected. After the assessment, the patient developedpartial non-convulsive status epilepcus; a right frontal foci was revealed in the EEG(matching with an hemorrhagic secuelae), no evidence of new strokes(ischemic or hemorrhagic) was found. A few weeks after seizures resolution patient?s cognive status declined and a new MRI unveil right frontal meningeal enhancement. Lumbar puncture and cultures were normal. Inflammatory amyloid angiopathy was suspected. A short course of IV melprednisolone was administered followed by oral steroids without response. The patient died 3 months after. Post mortem analysis confirmed an heterocygous mutation: c.2137G>A; p.Arg713Thr at exon 17 of the APP gene. Conclusions: This is a case of confirmed an heterocygous APPA713T mutation with cognitive decline, possible inflammatory amyloid angiopathy and family history of presenile Alzheimer?s disease. As far as we know this is the first case described in Argentina, and provides more information about the phenotype spectrum of the disease.