Review
Biochemistry & Molecular Biology
Edward O. Olufunmilayo, R. M. Damian Holsinger
Summary: Alzheimer's disease is the most common form of dementia, with individuals in low- and middle-income countries being the most affected. Variants of the TREM2 receptor have been found to increase the risk of Alzheimer's disease. However, the specific signaling processes triggered by these receptor variants are not well understood.
JOURNAL OF MOLECULAR BIOLOGY
(2022)
Article
Neurosciences
Bhargavi Kulkarni, Dileep Kumar, Natalia Cruz-Martins, Satheeshkumar Sellamuthu
Summary: The role and variants of TREM2 play an important role in the progression of AD, with studies showing its relationship with neuroinflammation, β-amyloid burden, and tau pathology. The potential of soluble TREM2 as an effective biomarker and neuroprotection in AD is discussed, with a focus on developing therapeutic agents targeting TREM2.
MOLECULAR NEUROBIOLOGY
(2021)
Article
Clinical Neurology
Binyao Huang, Xiaolu Wang, Biao Jiang, Linlin Kong, Haifeng Hou, Jiong Zhou
Summary: The logopenic variant of primary progressive aphasia is characterized by word retrieval and sentence repetition difficulties, accompanied by mild auditory comprehension and naming deficits attributed to impaired access to lexical representations. Clinical treatment with memantine hydrochloride tablet and rivastigmine transdermal patch shows efficacy in slowing down cognitive deterioration.
FRONTIERS IN NEUROLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Ravi S. Pandey, Kevin P. Kotredes, Michael Sasner, Gareth R. Howell, Gregory W. Carter
Summary: By analyzing gene splicing patterns in aging mouse models carrying humanized APOE4 and/or Trem2*R47H variant, it is found that differentially expressed genes are enriched in AD-related pathways, while differentially spliced genes are enriched in neuronal functions. Significant overlap is observed between differentially spliced genes in Trem2*R47H mice and human AD subjects, suggesting a link between Trem2*R47H and molecular signatures of LOAD.
Review
Neurosciences
Min Chu, Haitian Nan, Deming Jiang, Li Liu, Anqi Huang, Yihao Wang, Liyong Wu
Summary: This study reports a novel GRN mutation and summarizes the genetic and clinical features of patients with GRN mutations in China. The patient had a new GRN mutation and reduced plasma GRN level. The literature review showed that Chinese patients with GRN mutations were mostly female with early onset. These findings can contribute to the diagnosis and treatment of FTD.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Biochemistry & Molecular Biology
Zhaoxia Wang, Chenyu Wang, ZhuangZhuang Yuan, Liangliang Fan, Lin Xue, Tieyu Tang
Summary: This study investigated the APP gene variants carried by a family with Alzheimer's disease using whole-exome sequencing and Sanger sequencing. A new variant of the APP gene was identified in the family members, which provides potential targets for further research and information for genetic counseling.
MOLECULAR BIOLOGY REPORTS
(2023)
Article
Neurosciences
Xuewen Xiao, Lina Guo, Xinxin Liao, Yafang Zhou, Weiwei Zhang, Lu Zhou, Xin Wang, Xixi Liu, Hui Liu, Tianyan Xu, Yuan Zhu, Qijie Yang, Xiaoli Hao, Yingzi Liu, Junling Wang, Jinchen Li, Bin Jiao, Lu Shen
Summary: Common variants in COL4A1 and rare variants in HTRA1, NOTCH3, COL4A1, and CST3 may be implicated in AD pathogenesis in the Chinese population. Additionally, GSN, ITM2B, and COL4A1 are probably involved in the development of AD endophenotypes.
CNS NEUROSCIENCE & THERAPEUTICS
(2021)
Article
Clinical Neurology
Niels Hansen, Berend Malchow, Bianca Teegen, Jens Wiltfang, Claudia Bartels
Summary: This report presents a case of neurochondrin autoimmunity associated with Alzheimer's disease (AD) dementia. The patient exhibited typical clinical and imaging features of AD, including elevated tau and ptau 181 proteins and a reduced Ass42/40 ratio in cerebrospinal fluid (CSF). Neurochondrin autoantibodies were detected in the patient's CSF, expanding the phenotypic spectrum of neurochondrin autoimmunity to include major cognitive disorders such as AD dementia. The onset of AD symptoms in this case may have been accelerated by the neurochondrin autoimmunity via a synergistic or negatively additive hybrid mechanism of action between neurodegeneration and autoimmunity.
FRONTIERS IN NEUROLOGY
(2022)
Article
Genetics & Heredity
Miguel Moutinho, Israel Coronel, Andy P. P. Tsai, Gonzalo Viana Di Prisco, Taylor Pennington, Brady K. K. Atwood, Shweta S. S. Puntambekar, Daniel C. C. Smith, Pablo Martinez, Seonggyun Han, Younghee Lee, Cristian A. A. Lasagna-Reeves, Bruce T. T. Lamb, Stephanie J. J. Bissel, Kwangsik Nho, Gary E. E. Landreth
Summary: TREM2 can inhibit synaptic plasticity by generating soluble sTREM2 through proteolytic cleavage. There are three distinct TREM2 transcripts in the AD brain, which can give rise to a heterogeneous pool of sTREM2 species that interfere with neuronal function.
Article
Pediatrics
Yu-Jia Guan, Yan-Nan Guo, Wen-Tao Peng, Li-Li Liu
Summary: This study reported a rare case of cystinosis in a Chinese child, with clinical manifestations and novel CTNS gene variant identified through gene analysis. The child exhibited movement disorders and other symptoms before the age of 3, and the gene analysis confirmed a pathogenic variant in the CTNS gene.
FRONTIERS IN PEDIATRICS
(2022)
Article
Clinical Neurology
Aliza P. Wingo, Selina M. Vattathil, Jiaqi Liu, Wen Fan, David J. Cutler, Allan Levey, Julie A. Schneider, David A. Bennett, Thomas S. Wingo
Summary: This study found that LDL-C is associated with various neuropathological manifestations of AD independent of APOE, suggesting that LDL-C may be a modifiable risk factor for AD.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Review
Clinical Neurology
Claire Sexton, Michele Solis, Judith Aharon-Peretz, Panagiotis Alexopoulos, Liana G. Apostolova, Eleonore Bayen, Betty Birkenhager, Stefano Cappa, Fofi Constantinidou, Juan Fortea, Debby L. Gerritsen, Hany Hassanin, Agustin Ibanez, Panagiotis Ioannidis, Elissaios Karageorgiou, Amos Korczyn, Iracema Leroi, Bjorn Lichtwarck, Giancarlo Logroscino, Chris Lynch, Patrizia Mecocci, Jose Luis Molinuevo, John Papatriantafyllou, Sokratis Papegeorgiou, Antonis Politis, Rema Raman, Karen Ritchie, Pascual Sanchez-Juan, Mary Sano, Nikolas Scarmeas, Luiza Spiru, Afroditi Stathi, Magda Tsolaki, Gorsev Yener, Ioannis Zaganas, Stelios Zygouris, Maria Carrillo
Summary: With the increasing research and services in the Mediterranean region, there are growing opportunities for global collaboration. The virtual Alzheimer's Association International Conference provided a platform for researchers to share updates on the understanding, treatment, and care of Alzheimer's disease and other dementias in the Mediterranean region. The conference highlighted the local epidemiology of AD and dementia, identified populations for genetic studies, emphasized the development of biomarkers for early diagnosis, and discussed culturally specific interventions for dementia prevention and improving quality of life.
ALZHEIMERS & DEMENTIA
(2022)
Article
Clinical Neurology
Gustavo Campos de Franca, Henrique Carneiro de Barros Barreto, Thiago Paranhos, Julio Cesar Nunes, Ricardo de Oliveira-Souza
Summary: This case report describes a 95-year-old woman with degenerative dementia who experienced a radical change in personality and eventually developed catatonic stupor. Magnetic resonance imaging revealed asymmetric frontotemporal and parietal atrophy. The case highlights the link between frontotemporal injury and behavioral disinhibition, as well as the involvement of the parietal cortex in the development of catatonic stupor.
FRONTIERS IN NEUROLOGY
(2022)
Article
Neurosciences
Xin-Xin Fu, Shuai-Yu Chen, Hui-Wen Lian, Yang Deng, Rui Duan, Ying-Dong Zhang, Teng Jiang
Summary: Previously, the H157Y variant of the TREM2 gene was found to be associated with increased risk of Alzheimer's disease (AD) in Han Chinese population. In this study, using CRISPR-Cas9-engineered BV2 microglia, researchers investigated the effect of the Trem2 H157Y variant on AD-related microglial functions. The findings showed that this variant inhibits microglial phagocytosis, promotes M1-type polarization, and enhances the release of inflammatory cytokines.
Article
Endocrinology & Metabolism
Alyson L. Essex, Joshua R. Huot, Padmini Deosthale, Alison Wagner, Jorge Figueras, Azaria Davis, John Damrath, Fabrizio Pin, Joseph Wallace, Andrea Bonetto, Lilian Plotkin
Summary: This study reveals that the Trem2 variant associated with Alzheimer's disease risk may independently affect bone and skeletal muscle loss, regardless of central nervous system defects. These findings suggest a potential link between Trem2 signaling alterations and skeletal health.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)