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01-10-2020 | Magnetic Resonance Imaging | Original Article

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

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

Published in: Neurological Sciences | Issue 10/2020

Abstract

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) in cranial magnetic resonance imaging (MRI), cortical calcification, and brain atrophy. Next-generation sequencing-based comprehensive gene panel revealed heterozygous missense variant c.2059A>C (p.K687Q) mutation in the APP gene. Co-segregation analysis identified seven family members to be APP mutation carriers while normal neuroimaging features were seen in all family members lacking the APP mutation. WMH and cortical calcification were observed in patients with CAA, including those with the Iowa (D694N) and Italian (E693K) mutations. Further studies should investigate the functional changes associated with the heterozygous APP mutation (K687Q).

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Title: An APP mutation family exhibiting white matter hyperintensities and cortical calcification in East China
Authors: Yang Yi
Ye Xiaobin
Chen Hui
Zhong Yufa
Zhang Qiaowei
Hu Xingyue
Cai Huaying
Publication date: 01-10-2020
Publisher: Springer International Publishing
Keywords: Magnetic Resonance Imaging
Magnetic Resonance Imaging
Alzheimer's Disease
Alzheimer's Disease
Headache
Published in: Neurological Sciences / Issue 10/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-020-04342-4

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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