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Article

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 - 1 Feb 2020

Ohta Yasuyuki, Hishikawa Nozomi, Ikegami Ken, Sato Kota, Osakada Yosuke, Takemoto Mami, Yamashita Toru, Omote Yoshio, Ikeuchi Takeshi, Abe Koji

Abstract excerpt

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...

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PMID: 31937505
DOI: 10.1016/j.jocn.2019.11.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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