ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2020
An APP mutation family exhibiting white matter hyperintensities and cortical calcification in East China.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 15 citations in OpenAlex.
- Post-translational modifications in the brain are critical contributors to Alzheimer's disease neuropathology and cognitive decline.bioRxiv : the preprint server for biology · 2026Article
- K16F/E22F Mutation Promotes Oligomerization and Alters β-Sheet Topology of Aβ16-22 Peptides: Insights from Molecular Dynamics Simulations.ACS chemical neuroscience · 2026Article
- Aggregation-Dependent Epitope Sequence and Modification Fingerprints of Anti-Aβ Antibodies.bioRxiv : the preprint server for biology · 2025Article
- Iatrogenic Cerebral Amyloid Angiopathy After Childhood Brain Surgery: Novel Findings of MRI and CT.Neurology international · 2025Article
- Case of Autosomal-Dominant Alzheimer Disease With Ribbon-Like Cortical Calcifications.Neurology · 2024Article
- Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.Frontiers in neurology · 2023Article
- Frontal white matter lesions in Alzheimer's disease are associated with both small vessel disease and AD-associated cortical pathology.Acta neuropathologica · 2021Article
- Amyloid marker levels and the risk of developing cerebral small vessel disease: A Mendelian randomization study.Journal of Alzheimer's disease reportsArticle
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Authors and funding
7 authors at 2 institutions in 1 country.
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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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