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

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Title: An APP mutation family exhibiting white matter hyperintensities and cortical calcification in East China.
Authors: Yi, Yang (AUTHOR), Xiaobin, Ye (AUTHOR), Hui, Chen (AUTHOR), Yufa, Zhong (AUTHOR), Qiaowei, Zhang (AUTHOR), Xingyue, Hu (AUTHOR), Huaying, Cai (AUTHOR)
Source: Neurological Sciences. Oct2020, Vol. 41 Issue 10, p2921-2928. 8p. 1 Black and White Photograph, 1 Diagram, 2 Charts.
Subjects: Amyloid beta-protein precursor, Cerebral amyloid angiopathy, Calcification, Magnetic resonance imaging, Alzheimer's disease
Geographic Terms: Iowa, China
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). [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: An APP mutation family exhibiting white matter hyperintensities and cortical calcification in East China.
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  Data: <searchLink fieldCode="AR" term="%22Yi%2C+Yang%22">Yi, Yang</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Xiaobin%2C+Ye%22">Xiaobin, Ye</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hui%2C+Chen%22">Hui, Chen</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yufa%2C+Zhong%22">Yufa, Zhong</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Qiaowei%2C+Zhang%22">Qiaowei, Zhang</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Xingyue%2C+Hu%22">Xingyue, Hu</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Huaying%2C+Cai%22">Huaying, Cai</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Oct2020, Vol. 41 Issue 10, p2921-2928. 8p. 1 Black and White Photograph, 1 Diagram, 2 Charts.
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  Data: <searchLink fieldCode="DE" term="%22Amyloid+beta-protein+precursor%22">Amyloid beta-protein precursor</searchLink><br /><searchLink fieldCode="DE" term="%22Cerebral+amyloid+angiopathy%22">Cerebral amyloid angiopathy</searchLink><br /><searchLink fieldCode="DE" term="%22Calcification%22">Calcification</searchLink><br /><searchLink fieldCode="DE" term="%22Magnetic+resonance+imaging%22">Magnetic resonance imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Alzheimer's+disease%22">Alzheimer's disease</searchLink>
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  Data: <searchLink fieldCode="DE" term="%22Iowa%22">Iowa</searchLink><br /><searchLink fieldCode="DE" term="%22China%22">China</searchLink>
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  Label: Abstract
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  Data: 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). [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              Text: Oct2020
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