Early-Onset Alzheimer’s Disease Masquerading as Catatonia by Aljoharah Alakkas, Aaron Meyer, Eric Debbold, Raisa Yagudayeva, Jonathan Bui

“…After failure to respond to standard medical treatment, she received an extensive workup, which ultimately revealed a PSEN1 mutation consistent with early-onset Alzheimer’s disease. Diagnosis was challenging because of her young age, lack of reliable family history, and reports of recent sexual abuse by her biological father. …”
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Heterogeneous clinical phenotypes of sporadic early-onset Alzheimer’s disease: a neuropsychological data-driven approach by Deepti Putcha, Yuta Katsumi, Alexandra Touroutoglou, Ani Eloyan, Alexander Taurone, Maryanne Thangarajah, Paul Aisen, Jeffrey L. Dage, Tatiana Foroud, Clifford R. Jack, Joel H. Kramer, Kelly N. H. Nudelman, Rema Raman, Prashanthi Vemuri, Alireza Atri, Gregory S. Day, Ranjan Duara, Neill R. Graff-Radford, Ian M. Grant, Lawrence S. Honig, Erik C. B. Johnson, David T. Jones, Joseph C. Masdeu, Mario F. Mendez, Erik Musiek, Chiadi U. Onyike, Meghan Riddle, Emily Rogalski, Stephen Salloway, Sharon Sha, R. Scott Turner, Thomas S. Wingo, David A. Wolk, Kyle Womack, Maria C. Carrillo, Gil D. Rabinovici, Bradford C. Dickerson, Liana G. Apostolova, Dustin B. Hammers, the LEADS Consortium

Subjects: “…Alzheimer’s disease…”
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The Genetics of Alzheimer’s Disease by Robert C. Barber

“…Early onset Alzheimer’s is rare, accounting for less than 5% of disease burden. …”
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Epigenetic Modulation on Tau Phosphorylation in Alzheimer’s Disease by Chao-Chao Yu, Tao Jiang, Ao-Fei Yang, Yan-Jun Du, Miao Wu, Li-Hong Kong

“…Tau hyperphosphorylation is a typical pathological change in Alzheimer’s disease (AD) and is involved in the early onset and progression of AD. …”
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The Processing of Global and Local Visual Information in Alzheimer’s Disease by Eriko Matsumoto, Yoshitaka Ohigashi, Misato Fujimori, Etsuro Mori

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Frontotemporal dementia: peculiarities of clinical variants by B. Klimbytė, A. Vaitkus

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A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer’s Disease by Jorge I. Vélez, Dora Rivera, Claudio A. Mastronardi, Hardip R. Patel, Carlos Tobón, Andrés Villegas, Yeping Cai, Simon Easteal, Francisco Lopera, Mauricio Arcos-Burgos

“…We previously reported age of onset (AOO) modifier genes in the world’s largest pedigree segregating early-onset Alzheimer’s disease (AD), caused by the p.Glu280Ala (E280A) mutation in the PSEN1 gene. …”
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Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease by Elisa Rubino, Maria Italia, Elisa Giorgio, Silvia Boschi, Paola Dimartino, Tommaso Pippucci, Fausto Roveta, Clara Maria Cambria, Gabriella Elia, Andrea Marcinnò, Salvatore Gallone, Ekaterina Rogaeva, Flavia Antonucci, Alfredo Brusco, Fabrizio Gardoni, Innocenzo Rainero

“…Abstract Background Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. …”
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Changes in the Parietal Lobe Subregion Volume at Various Stages of Alzheimer’s Disease and the Role in Cognitively Normal and Mild Cognitive Impairment Conversion by Fang Lu, Qing Ma, Cailing Shi, Wenjun Yue

“…Background: Volume alterations in the parietal subregion have received less attention in Alzheimer’s disease (AD), and their role in predicting conversion of mild cognitive impairment (MCI) to AD and cognitively normal (CN) to MCI remains unclear. …”
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Alzheimer-mutant γ-secretase complexes stall amyloid β-peptide production by Parnian Arafi, Sujan Devkota, Emily Williams, Masato Maesako, Michael S Wolfe

“…Missense mutations in the amyloid precursor protein (APP) and presenilin-1 (PSEN1) cause early-onset familial Alzheimer’s disease (FAD) and alter proteolytic production of secreted 38-to-43-residue amyloid β-peptides (Aβ) by the PSEN1-containing γ-secretase complex, ostensibly supporting the amyloid hypothesis of pathogenesis. …”
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Detection of Amylin-β-amyloid Hetero-Oligomers by Enzyme-Linked Immunosorbent Assay by Noah Leibold, Deepak Kotiya, Nirmal Verma, Florin Despa

“…Parenchymal amylin-Aβ plaques are found in both sporadic and early-onset familial Alzheimer’s disease (AD), yet their (patho)physiological role remains elusive, particularly due to a lack of detection modalities for these mixed plaques. …”
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