Work

A Novel p. (Leu173del) Mutation in the Presenilin 1 (PSEN1) Gene in Two Sisters with Dominantly Inherited Alzheimer's Disease

Year: 2026

Type: article

Abstract: We report two sisters with dominantly inherited Alzheimer's disease carrying a novel presenilin 1 (PSEN1) mutation. Case 1 presented with depression at 39 years of age, gradually developed dementia and involuntary movements, and died at 51 years of age. Case 2 presented with dementia at 46 years of age, which progressed gradually, with no other neurological symptoms. The mother also had early onset dementia. A novel c.517_519del, p. (Leu173del) mutation in exon 6 of PSEN1 (NM_000021.3), confirmed by Sanger sequencing, was identified in both cases. Patients with PSEN1 mutations present with diverse neurological symptoms. Therefore, a careful follow-up is recommended.

Source: Internal Medicine

DOI: 10.2169/internalmedicine.7327-26