Blood samples for sequencing were obtained from the proband and five first-degree relatives. Sanger sequencing — performed for the last three coding exons of amyloid precursor protein (APP) and all coding exons of presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes (primer sequences available upon request) — identified no pathogenic mutations.
Physical, occupational, and speech therapy were initiated. The patient did not continue on cholinesterase inhibitors due to a lack of clinical response. At follow-up 6 months later, she continued to have progressive neurological deterioration, with severe dependence in basic activities of daily living.
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