Fascinating case study on the neuroprotective effects of a mutant reelin allele (RELN–COLBOS) which delayed disease progression in a patient with autosomal dominant Alzheimer’s disease (ADAD). A promising therapeutic target!
Case report of an individual heterozygous for a rare RELN–COLBOS variant that confers resilience, via a gain-of-function mechanism, to Alzheimer’s disease.
