{
  "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.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "name": "Shintaro Fujii"
    },
    {
      "name": "Ikuko Takahashi-Iwata"
    },
    {
      "name": "Masaaki Matsushima"
    },
    {
      "name": "Hiroaki Yaguchi"
    },
    {
      "name": "Atsushi Takatsuka"
    },
    {
      "name": "Norikazu Hara"
    },
    {
      "name": "Takeshi Ikeuchi"
    },
    {
      "name": "Ichiro Yabe"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/39ybv9en7s29e.bib",
  "cited_by": 0,
  "doi": "10.2169/internalmedicine.7327-26",
  "fulltext_url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7327-26/_article",
  "id": "39ybv9en7s29e",
  "issns": [
    "1349-7235",
    "0918-2918"
  ],
  "landing_url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7327-26/_article",
  "language": null,
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "jstage-journal",
      "medicine/general"
    ],
    [
      "openalex",
      "2737|Alzheimer's disease research and treatments"
    ]
  ],
  "openalex": "W7169517330",
  "pdf_url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7327-26/_pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-07-18",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/39ybv9en7s29e.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:31Z",
      "native_id": "10.2169/internalmedicine.7327-26",
      "source": "jstage",
      "url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7327-26/_article"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2737|Alzheimer's disease research and treatments",
      "subfield": "physiology"
    }
  ],
  "title": "A Novel p. (Leu173del) Mutation in the Presenilin 1 (PSEN1) Gene in Two Sisters with Dominantly Inherited Alzheimer's Disease",
  "title_text": "A Novel p. (Leu173del) Mutation in the Presenilin 1 (PSEN1) Gene in Two Sisters with Dominantly Inherited Alzheimer's Disease",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:31Z",
  "url": "https://research.draconitic.com/paper/39ybv9en7s29e",
  "venue": "Internal Medicine",
  "versions": []
}