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Vol. 32, No. 1, 2011
Issue release date: September 2011
Section title: Original Research Article
Dement Geriatr Cogn Disord 2011;32:45–54
(DOI:10.1159/000330017)

Clinical Course of Patients with Familial Early-Onset Alzheimer’s Disease Potentially Lacking Senile Plaques Bearing the E693Δ Mutation in Amyloid Precursor Protein

Shimada H. · Ataka S. · Tomiyama T. · Takechi H. · Mori H. · Miki T.
Departments of aGeriatrics and Neurology and bNeuroscience, Osaka City University Graduate School of Medicine, Osaka, cCore Research for Evolutional Science and Technology, Japan Science and Technology Agency, Tokyo, and dDepartment of Geriatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan

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Article / Publication Details

First-Page Preview
Abstract of Original Research Article

Accepted: 6/6/2011
Published online: 8/13/2011

Number of Print Pages: 10
Number of Figures: 7
Number of Tables: 1

ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)

For additional information: http://www.karger.com/DEM

Abstract

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.


  

Author Contacts

Hiroyuki Shimada, MD
Department of Geriatrics and Neurology
Osaka City University Graduate School of Medicine
1-4-3 Asahimachi, Abeno-ku, Osaka 545-8585 (Japan)
E-Mail h.shimada@med.osaka-cu.ac.jp

  

Article Information

Accepted: June 6, 2011
Published online: August 13, 2011
Number of Print Pages : 10
Number of Figures : 7, Number of Tables : 1, Number of References : 23

  

Publication Details

Dementia and Geriatric Cognitive Disorders

Vol. 32, No. 1, Year 2011 (Cover Date: September 2011)

Journal Editor: Chan-Palay V. (Boston, Mass.)
ISSN: 1420-8008 (Print), eISSN: 1421-9824 (Online)

For additional information: http://www.karger.com/DEM


Article / Publication Details

First-Page Preview
Abstract of Original Research Article

Accepted: 6/6/2011
Published online: 8/13/2011

Number of Print Pages: 10
Number of Figures: 7
Number of Tables: 1

ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)

For additional information: http://www.karger.com/DEM


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