ARGENTINIAN INITIATIVE FOR THE STUDY OF DOWN SYNDROME AND ALZHEIMER?S DISEASE (IASDA)

PERTIERRA, LUCÍA; SURACE, EZEQUIEL I.; TAPAJOZ, FERNANDA; MAGRATH-GUIMET, NAHUEL; BÉRGAMO, YANINA; VÁZQUEZ, SILVIA; SEVLEVER, GUSTAVO; ALLEGRI, RICARDO

Los Angeles

Conferencia; Alzheimer's Association International Conference; 2019

Alzheimer's Association

Background: Alzheimer?s Disease (AD) is not only more frequentand has an earlier onset in Down Syndrome (DS) than in the generalpopulation, but also has an atypical clinical phenotype and anuncertain genetic risk factor and biomarker profile. The aim of thisstudy is to investigate clinical, genetic and biomarker aspects ofAD in DS. Methods: Longitudinal 3-year follow-up of 20 symptomaticand asymptomatic subjects with DS aged between 18and 60 years-old by means of cognitive assessment (Camdex-DS), brain MRI, brain FDG and PiB-PET, CSF levels of Ab42,phosphorylated t and total t, genotyping of APOE and TREM2polymorphisms. Results: Twelve individuals entered the studypopulation. The group consisted of 4 cognitively impaired individuals(33%), 4 individuals suffering from psychiatric disorders(33%) and 4 normal controls (33%). Mean age was 43 yo (20-56yo). Sixty-seven percent (n¼8) were males. Six individuals (3males, 3 females) completed baseline assessment so far. Free trisomy21 was confirmed by karyotype in all cases. From this subpopulation,1 individual was demented, 4 suffered frompsychiatric disorders and 1 was a normal control. All individualsrefused to undergo lumbar puncture, and 2 of them refused toperform brain FDG and PiB-PET (including the demented participant).Mean total Camdex-DS score was 58 points over 109. Thehighest score (88) corresponded to the normal control participant.The lowest score (29/109) was attained by the only dementedparticipant, being orientation, memory and praxis the mostimpaired cognitive domains. Cerebral PiB-PET was negative inall subjects (n¼4) and cerebral FDG-PET findings were non-specific.Conclusions: These are preliminary results as IASDA hasrecently started. Considering raising life expectancy in DS, ADin this population is not only a medical research topic, but alsoa public health issue. Several international efforts in North Americaand Europe are currently underway to excel research in thisarea. IASDA represents, to our knowledge, the first comprehensiveinitiative to evaluate AD in a Latin American DS population.Additionally, IASDA leads to the creation of the first DS-specificbiobank in Argentina.