2005年3月
A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease
ANNALS OF NEUROLOGY
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- 巻
- 57
- 号
- 3
- 開始ページ
- 429
- 終了ページ
- 434
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1002/ana.20393
- 出版者・発行元
- WILEY-LISS
We report early-onset parkinsonism and dementia of 18 years' duration in a 52-year-old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, Lewy bodies, cotton wool plaques, corticospinal tract degeneration, cerebral amyloid angiopathy, and a novel three-base pair deletion in exon 12 of the presenilin-1 (PSEN1) gene. We considered that the mutant PSEN1 might play an important role in the pathogenetic process of both aggregation of a-synuclein into Lewy bodies and deposition of beta-amyloid into cotton wool plaques.
- リンク情報
- ID情報
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- DOI : 10.1002/ana.20393
- ISSN : 0364-5134
- PubMed ID : 15732120
- Web of Science ID : WOS:000227402800016