A Second Pedigree with Amyloid-less Familial Alzheimer's Disease Harboring an Identical Mutation in the Amyloid Precursor Protein Gene (E693delta)
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- Kutoku Yumiko
- Department of Neurology, Kawasaki Medical School, Japan
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- Ohsawa Yutaka
- Department of Neurology, Kawasaki Medical School, Japan
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- Kuwano Ryozo
- Department of Molecular Genetics, Bioresource Science Branch, Center for Bioresources, Brain Research Institute, Niigata University, Japan
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- Ikeuchi Takeshi
- Department of Molecular Genetics, Bioresource Science Branch, Center for Bioresources, Brain Research Institute, Niigata University, Japan
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- Inoue Haruhisa
- Center for iPS Cell Research and Application, Kyoto University, Japan
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- Ataka Suzuka
- Department of Geriatrics and Neurology, Osaka City University Graduate School of Medicine, Japan
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- Shimada Hiroyuki
- Department of Geriatrics and Neurology, Osaka City University Graduate School of Medicine, Japan
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- Mori Hiroshi
- Department of Neuroscience, Osaka City University Graduate School of Medicine, Japan
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- Sunada Yoshihide
- Department of Neurology, Kawasaki Medical School, Japan
書誌事項
- タイトル別名
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- A Second Pedigree with Amyloid-less Familial Alzheimer's Disease Harboring an Identical Mutation in the <i>Amyloid Precursor Protein</i> Gene (E693delta)
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抄録
A 59-year-old woman developed early-onset, slowly progressive dementia and spastic paraplegia. positron emission tomography (PET) imaging revealed a large reduction in the level of glucose uptake without amyloid deposition in the cerebral cortex. We identified a homozygous microdeletion within the amyloid β (Aβ) coding sequence in the amyloid precursor protein (APP) gene (c.2080_2082delGAA, p.E693del) in three affected siblings and a heterozygous microdeletion in an unaffected sibling. The identical mutation was previously reported in the first Alzheimer's pedigree without amyloid deposits. Furthermore, an increase in high-molecular-weight Aβ-reactive bands was detected in the patient's CSF. Our findings suggest that soluble Aβ-oligomers induce neuronal toxicity, independent of insoluble Aβ fibrils.<br>
収録刊行物
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- Internal Medicine
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Internal Medicine 54 (2), 205-208, 2015
一般社団法人 日本内科学会
