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Article

An APP mutation family exhibiting white matter hyperintensities and cortical calcification in East China.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2020

Yi Yang, Xiaobin Ye, Hui Chen, Yufa Zhong, Qiaowei Zhang, Xingyue Hu, Huaying Cai

Abstract excerpt

Heterozygous amyloid precursor protein (APP) mutations cause hereditary cerebral amyloid angiopathy (CAA) and autosomal dominant Alzheimer's disease (AD). This study aimed at reporting an APP mutation and its associated clinical and neuroimaging features. The proband and her family members presented with memory loss, psychiatric, and visual symptoms. Neuroimaging revealed bilateral white matter intensities (WMH)...

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Identifiers

PMID: 32342327
DOI: 10.1007/s10072-020-04342-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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