Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease

We report on a previously not recognized mutation in exon 6 of presenilin-1 (PSEN1) (c.520_522delCTG) in a male patient with early onset familial Alzheimer disease. The mutation results in the deletion of a leucine at amino acid position 174 of the protein. The index patient presented with progressive memory loss at 50 years of age. Initially, depression was the only ancillary symptom. At age 53 clinical diagnosis of early Alzheimer disease was made based on neuropsychological, neuroimaging, and CSF findings. The patient's father and his paternal grandmother also suffered from memory loss and cognitive decline. The clinical findings in the patient are similar to signs and symptoms in previously reported patients with missense mutations at codon 174 of PSEN1.