CASE REPORT: HETEROZYGOUS APP A713T MUTATION CARRIER WITH INFLAMMATORY AMYLOID ANGIOPATHY AND FAMILY HISTORY OF AD: FIRST CASE IN ARGENTINA

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

Londres

Congreso; AAIC 2017; 2017

Alzheimer's Association

Background: APP A713T mutation has been related topresenile AD and amyloid angiopathy related cerebrovascular disease, however,the relationship between the clinical presentation and the presence of one ortwo mutant alleles is still under discussion. Some series of cases hasdescribed asymptomatic carriers but they described young subjects and shortfollow 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 evaluatedin the neurology clinic. Past medical history showed that from the age of 67 hedeveloped recurrent lobar hemorrhagic strokes leading to major cognitivedecline. Only during the first year of disease he received an 8-months courseof oral steroids. Patient?s mother suffered from a presenile dementia (< 65year old) diagnosed as Alzheimer?s disease. No other relatives were referred asaffected. After the assessment, the patient developed partial non-convulsivestatus epilepcus; a right frontal foci was revealed in the EEG(matching with anhemorrhagic secuelae), no evidence of new strokes(ischemic or hemorrhagic) wasfound. A few weeks after seizures resolution patient?s cognive status declinedand a new MRI unveil right frontal meningeal enhancement. Lumbar puncture andcultures were normal. Inflammatory amyloid angiopathy was suspected. A shortcourse of IV mel-prednisolone was administered followed by oral steroidswithout response. The patient died 3 months after. Post mortem analysis confirmedan heterocygous mutation: c.2137G>A; p.Arg713Thr at exon 17 of the APP gene.Conclusions: This is a case of confirmed anheterocygous APP A713T mutation with cognitive decline, possible inflammatoryamyloid angiopathy and family history of presenile Alzheimer?s disease. As faras we know this is the first case described in Argentina, and provides more informationabout the phenotype spectrum of the disease