A Novel p. (Leu173del) Mutation in the Presenilin 1 (PSEN1) Gene in Two Sisters with Dominantly Inherited…

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.

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BibTeX RIS

BibTeX

@article{fujii2026novel,
  title = {{A Novel p. (Leu173del) Mutation in the Presenilin 1 (PSEN1) Gene in Two Sisters with Dominantly Inherited Alzheimer's Disease}},
  author = {Shintaro Fujii and Ikuko Takahashi-Iwata and Masaaki Matsushima and Hiroaki Yaguchi and Atsushi Takatsuka and Norikazu Hara and Takeshi Ikeuchi and Ichiro Yabe},
  journal = {Internal Medicine},
  year = {2026},
  month = jul,
  doi = {10.2169/internalmedicine.7327-26},
  url = {https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7327-26/_article},
  note = {CC BY-NC-ND},
}

RIS

TY  - JOUR
TI  - A Novel p. (Leu173del) Mutation in the Presenilin 1 (PSEN1) Gene in Two Sisters with Dominantly Inherited Alzheimer's Disease
AU  - Shintaro Fujii
AU  - Ikuko Takahashi-Iwata
AU  - Masaaki Matsushima
AU  - Hiroaki Yaguchi
AU  - Atsushi Takatsuka
AU  - Norikazu Hara
AU  - Takeshi Ikeuchi
AU  - Ichiro Yabe
PY  - 2026
DA  - 2026/07/18
JO  - Internal Medicine
DO  - 10.2169/internalmedicine.7327-26
UR  - https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7327-26/_article
AB  - 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.
SN  - 1349-7235
SN  - 0918-2918
ER  -

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