Clinical course of patients with familial early-onset Alzheimer's disease potentially lacking senile plaques bearing the E693Δ mutation in amyloid precursor protein

Hiroyuki Shimada, Suzuka Ataka, Takami Tomiyama, Hajime Takechi, Hiroshi Mori, Takami Miki

研究成果: Article

21 引用 (Scopus)

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Background/Aims: Oligomeric amyloid β (Aβ) is currently considered to induce Alzheimer's disease (AD). We examined 2 patients with familial AD who possessed the Osaka (E693Δ) mutation in amyloid precursor protein. To the best of our knowledge, these patients are the first AD cases presumably affected with Aβ oligomers in the absence of senile plaques, and they support the Aβ oligomer hypothesis. Methods: We evaluated the clinical course, neuropsychological data, cerebrospinal fluid biomarker levels, magnetic resonance imaging (MRI) scans, fluorodeoxyglucose-positron emission tomography (PET) scans, and Pittsburgh compound B (PiB)-PET images of these patients. Results: In the early stages, these patients developed memory disturbances in a similar rate to patients with sporadic AD. Despite their memory disturbances, both patients showed only limited brain atrophy on MRI and little amyloid accumulation on PiB-PET. Subsequent to the development of memory disturbances, both patients suffered from motor dysfunction, probably due to cerebellar ataxia, and, within a few years, the patients fell into an apallic state. Conclusions: Familial AD patients with Osaka (E693Δ) mutation show severe dementia, cerebellar ataxia, and gait disturbances.

元の言語English
ページ(範囲)45-54
ページ数10
ジャーナルDementia and Geriatric Cognitive Disorders
32
発行部数1
DOI
出版物ステータスPublished - 09-2011

All Science Journal Classification (ASJC) codes

  • Geriatrics and Gerontology
  • Cognitive Neuroscience
  • Psychiatry and Mental health

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