P023 - ALPHA-SYNUCLEIN CSF DETECTION BY RT-QUIC AND STAGING OF CO-PATHOLOGY IN PATIENTS WITH AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE. (ID 1937)
Abstract
Aims
To evaluate the presence of misfolded α-synuclein (αSyn) in the cerebrospinal fluid (CSF) and αSyn aggregates in postmortem brain tissue of patients with Autosomal dominant Alzheimer’s disease (ADAD).
Methods
18 CSF samples from ADAD symptomatic patients were tested for αSyn using Real-time quacking-induced conversion (RT-QuIC) technique. Postmortem brain tissue from 21 ADAD brain donors was studied. We applied NIA-AA consensus criteria for AD pathology staging, McKeith system for αSyn deposits and LATE-NC stages for TDP43 pathology.
Results
Mean age of CSF samples was 49±9 years with 10/18 females (56%). Clinically patients were in mild (7/18) and moderate stages of the disease (11/18). Mean age of brain donors was 56±9 years with 4/21 females (19%), all in advance clinical stages of AD. Amplification of αSyn was observed in 1 patient (6% of cases). AD staging revealed an A3B3C3 score in 19 subjects (90%) and an A3B2C3 score due to Braak IV in 2 subjects (10%). αSyn aggregates were present in 9 subjects (43%): 5 presented amygdala predominant deposits (56%), 2 limbic (22%), 1 neocortical and 1 in olfactory bulb only. In addition, TDP43 concomitant pathology was observed in 2 patients (10%) (LATE-NC stage 2).
Conclusions
The presence of misfolded αSyn in CSF is scarce in symptomatic ADAD, in contrast to the presence of brain aggregates in postmortem tissue. This fact might be related to the late appearance of concomitant αSyn pathology in the course of the disease or to the distribution and/or to the strain of the αSyn deposits in the brain.
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