2020年2月
Different clinical and neuroimaging features of Japanese dementia siblings with a new N-terminal mutation (Val225Ala) of APP gene.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
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- 巻
- 72
- 号
- 開始ページ
- 482
- 終了ページ
- 484
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1016/j.jocn.2019.11.009
Autosomal dominant amyloid precursor protein (APP) mutations in familial Alzheimer's disease accelerate the amyloid beta (Aβ) pathology. Here we describe Japanese siblings with a new N-terminal mutation (a heterogeneous c.674T>C, p.Val225Ala) of the APP gene, developing a progressive dementia at 57 years and Aβ and tau pathologies in cerebrospinal fluid studies. However, the brother and sister showed different clinical and neuroimaging features, suggesting different Aβ pathologies for each sibling.
- リンク情報
- ID情報
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- DOI : 10.1016/j.jocn.2019.11.009
- PubMed ID : 31937505