Article
Medicine, General & Internal
Florence Lai, Nathaniel Mercaldo, Cassandra M. Wang, Giovi G. Hersch, Herminia Diana Rosas
Summary: Adults with Down syndrome have a high prevalence of Alzheimer's disease, and inflammatory conditions such as diabetes and alopecia may contribute to early onset. Conditions like gout could potentially delay the onset of Alzheimer's disease in this population, suggesting a complex interplay between inflammation and age of onset.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Geriatrics & Gerontology
Xu-Qiao Chen, Zhuo Xing, Quang-Di Chen, Richard J. Salvi, Xuming Zhang, Benjamin Tycko, William C. Mobley, Y. Eugene Yu
Summary: Down syndrome is the most common genetic cause of Alzheimer's disease due to trisomy for human chromosome 21, leading to distinctive facial features, cardiac defects, intellectual disability, and other associated phenotypes. Apart from accelerated aging, DS is also characterized by hearing loss and immune system abnormalities, which may increase susceptibility to diseases like COVID-19.
FRONTIERS IN AGING NEUROSCIENCE
(2021)
Review
Medicine, General & Internal
Miren Altuna, Sandra Gimenez, Juan Fortea
Summary: Individuals with Down syndrome have an increased risk of epilepsy, especially in late middle age, which is linked to the development of Alzheimer's disease. Increased awareness and understanding of epilepsy in this population could lead to earlier diagnoses and improved treatments.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Nutrition & Dietetics
Christophe Noll, Janany Kandiah, Gautier Moroy, Yuchen Gu, Julien Dairou, Nathalie Janel
Summary: Plant-derived polyphenols flavonoids have medicinal potential and can ameliorate adverse health risks. They have positive effects on comorbidities associated with Down syndrome.
Article
Neurosciences
Benjamin Handen, Isabel Clare, Charles Laymon, Melissa Petersen, Shahid Zaman, Sid O'Bryant, Davneet Minhas, Dana Tudorascu, Stephanie Brown, Bradley Christian
Summary: Acute regression is commonly seen in individuals with Down syndrome, leading to possible differences in biomarkers. However, due to small sample size and older age, the study on image-based biomarkers may be premature.
Article
Immunology
Eleni Fella, Revekka Papacharalambous, Demos Kynigopoulos, Maria Ioannou, Rita Derua, Christiana Christodoulou, Myrto Stylianou, Christos Karaiskos, Alexia Kagiava, Gerasimou Petroula, Chryso Pierides, Maria Kyriakou, Laura Koumas, Paul Costeas, Elena Panayiotou
Summary: Research has found that the modified C5a receptor agonist (EP67) can significantly reduce beta-amyloid deposition and gliosis, and improve cognitive impairment in advanced stages of Alzheimer's disease. Proteomic analysis suggests that these effects may be triggered by the upregulation of beta-adrenergic and GABAergic signaling.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Aurora Veteleanu, Sarah Pape, Kate Davies, Eleftheria Kodosaki, Abdul Hye, Wioleta M. Zelek, Andre Strydom, B. Paul Morgan
Summary: Complement dysregulation is present in individuals with Down syndrome, likely indicating a generalized immune dysregulation state; complement biomarkers differ in individuals with Down syndrome with and without Alzheimer's disease and may be used for diagnosis and/or prediction.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Yuki Minamisawa, Mutsumi Sato, Yoshiaki Saito, Fumikazu Takeuchi, Hidehito Miyazaki, Mao Odaka, Ayako Yamamoto, Yoshitaka Oyama, Yoshihiro Watanabe, Saoko Takeshita, Yukitoshi Takahashi
Summary: A 12-year-old Japanese girl with Down syndrome presented with various neurological symptoms, including dizziness and weakness. Initial diagnosis was adjustment disorder, but later symptoms progressed to include chest pain, sleep problems, and hallucinations. Treatment with medication showed limited effectiveness, and the patient continues to experience ongoing symptoms such as daytime sleepiness and decreased communication abilities.
FRONTIERS IN NEUROLOGY
(2023)
Review
Neurosciences
Blandine Ponroy Bally, Keith K. Murai
Summary: Down Syndrome (DS) is the most common genetic cause of intellectual disability, traditionally focusing on neurons, but recent studies have highlighted the role of non-neuronal cells, especially astrocytes, in DS. Understanding the impact of trisomy 21 on astrocytes in DS may be crucial in determining specific brain alterations and neurological phenotypes in DS.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Review
Medicine, General & Internal
Melissa J. Alldred, Alessandra C. Martini, David Patterson, James Hendrix, Ann-Charlotte Granholm
Summary: Down syndrome is a form of accelerated aging due to the overexpression of multiple genes on Chromosome 21, leading to a predisposition to aging-related conditions and significant accumulation of abnormalities in the brain. This review highlights the major advancements in research over the past few decades, current research status, and essential areas for future studies, as well as discussing comorbidities and clinical research efforts in the United States and Europe. The review also addresses funding efforts and recent recommendations to the NIH regarding research on Down syndrome.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Pooja Girish Mhatre, Joseph H. Lee, Deborah Pang, Warren B. Zigman, Benjamin Tycko, Sharon J. Krinsky-McHale, Yuchen Yang, Wayne Silverman, Nicole Schupf
Summary: This study found that among adults with Down Syndrome, only males over 60 years old were significantly more likely to develop Alzheimer's Disease compared to age-matched females.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Neurosciences
Mary Elizabeth Curtis, Tiffany Smith, Miroslav Nenov, Benjamin E. Blass, Domenico Pratico
Summary: Pharmacological stabilization of the retromer complex improves synaptic plasticity and memory in a mouse model of Down syndrome, supporting the therapeutic potential of pharmacological retromer stabilization for individuals with Down syndrome.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Neurosciences
Jovana Arandelovic, Anja Santrac, Bojan Batinic, Lidija Todorovic, Vladimir Stevanovic, Veera Venkata Naga Phani Babu Tiruveedhula, Dishary Sharmin, Farjana Rashid, Boban Stanojevic, James M. Cook, Miroslav M. Savic
Summary: The aim of this study was to assess the effects of negative and positive allosteric modulators of alpha 5 GABA(A) receptors on behavior and neuroinflammation in a widely used Alzheimer's disease (AD) model. The results showed that these modulators had some effects on the behavior and neuroinflammation of transgenic mice, but did not achieve the expected beneficial effects.
CNS NEUROSCIENCE & THERAPEUTICS
(2022)
Article
Clinical Neurology
Farah Mgaieth, R. Asaad Baksh, Carla M. Startin, Sarah Hamburg, Rosalyn Hithersay, Sarah Pape, Henrik Zetterberg, Nicholas J. Ashton, Miren Tamayo-Elizalde, Fedal Saini, Mina Idris, Andre Strydom
Summary: Adults with Down syndrome have a high risk of developing Alzheimer's disease, showing poor verbal fluency and semantic memory similar to the general population in the preclinical phase. This study investigated the semantic fluency performance in adults with DS and its relationship to age, AD, and blood biomarkers. The results suggest that semantic fluency may serve as an early indicator of cognitive decline and be associated with biomarkers in adults with DS.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Alberto Lleo, Maria Carmona-Iragui, Laura Videla, Susana Fernandez, Bessy Benejam, Jordi Pegueroles, Isabel Barroeta, Miren Altuna, Silvia Valldeneu, Mei-Fang Xiao, Desheng Xu, Raul Nunez-Llaves, Marta Querol-Vilaseca, Sonia Sirisi, Alexandre Bejanin, M. Florencia Iulita, Jordi Clarimon, Rafael Blesa, Paul Worley, Daniel Alcolea, Juan Fortea, Olivia Belbin
Summary: The study compares the cerebrospinal fluid (CSF) profile of synaptic proteins in individuals with Down syndrome (DS) and Alzheimer's disease (AD) and finds VAMP-2 as a potential marker of synapse degeneration with correlations to AD and axonal degeneration markers. NPTX2 is the only synaptic protein showing reduced CSF levels in DS at all AD stages, correlating strongly with other synaptic proteins.
ALZHEIMERS RESEARCH & THERAPY
(2021)
Article
Biochemistry & Molecular Biology
Pei-Yang Gao, Ya-Nan Ou, Yi-Ming Huang, Zhi-Bo Wang, Yan Fu, Ya-Hui Ma, Qiong-Yao Li, Li-Yun Ma, Rui-Ping Cui, Yin-Chu Mi, Lan Tan, Jin-Tai Yu
Summary: Liver function may play a role in the progression of Alzheimer's disease. The study found that as AD progressed, certain liver function markers increased while others decreased. The relationship between liver function and CSF AD biomarkers indicates a potential mediation effect on cognition.
JOURNAL OF NEUROCHEMISTRY
(2024)