Article
Ophthalmology
Artur V. Cideciyan, Samuel G. Jacobson, Malgorzata Swider, Alexander Sumaroka, Rebecca Sheplock, Arun K. Krishnan, Alexandra V. Garafalo, Karina E. Guziewicz, Gustavo D. Aguirre, William A. Beltran, Elise Heon
Summary: The study evaluated the rod and cone function and outer retinal structure in macular lesions and surrounding areas in patients with autosomal dominant Best vitelliform macular dystrophy caused by BEST1 mutations. The results showed reduced rod sensitivity but relatively preserved visual acuity and cone sensitivity in central lesions with large retinal detachments. In the surrounding areas, there was a mild widening of the subretinal space. Long-term follow-up revealed the formation of new satellite lesions at retinal locations that previously showed subretinal widening. Patients also exhibited a subclinical abnormality of mild thickening of the outer nuclear layer, which increased over time in some cases.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Geriatrics & Gerontology
Xiu-Lin Liu, Shu-Ying Liu, Olivier Barret, Gilles D. Tamagnan, Hong-Wen Qiao, Tian-Bing Song, Jie Lu, Piu Chan
Summary: This study aimed to evaluate the difference in dopaminergic integrity between patients with Parkinson's disease (PD) and healthy controls (HC) using F-18-FP-DTBZ PET in vivo and determine the diagnostic value of standardized uptake value ratios (SUVRs) using the Receiver Operating Characteristic (ROC) curve. The results showed that an SUVR threshold of 3.43 in the posterior dorsal putamen (PDP) could effectively distinguish patients with PD from HC.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Medicine, General & Internal
Larina A. Karner, Sita Arjune, Polina Todorova, David Maintz, Franziska Grundmann, Thorsten Persigehl, Roman-Ulrich Mueller
Summary: Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic kidney disease. The glomerular filtration rate (GFR) is not a reliable indicator of disease progression until decline begins. Kidney volumetry is often used to assess disease severity, but additional imaging markers are needed. This study examined cyst fraction as a potential marker and found that it correlated with eGFR and showed higher predictive accuracy than total kidney volume. Future clinical trials are encouraged to explore the predictive value of cyst fraction in combination with other biomarkers.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Ahsan Alam, Emilie Cornec-Le Gall, Ronald D. Perrone
Summary: This article describes autosomal dominant polycystic kidney disease, its signs and symptoms, diagnosis, and treatment options.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Article
Medicine, General & Internal
Jin Liu, Xiaorui Yin, Hreedi Dev, Xianfu Luo, Jon D. D. Blumenfeld, Hanna Rennert, Martin R. R. Prince
Summary: This study investigates the association between autosomal dominant polycystic kidney disease (ADPKD) and pleural effusion. Pleural effusions were observed in 21% of ADPKD subjects compared to 8% in controls. In a subpopulation controlling for renal function, 25% of ADPKD subjects had pleural effusions compared to 5% of controls.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cell Biology
Rinki Ratnapriya, Samuel G. Jacobson, Artur Cideciyan, Milton A. English, Alejandro J. Roman, Alexander Sumaroka, Rebecca Sheplock, Anand Swaroop
Summary: Despite advances in identifying causative genes, a family with dominant IRD was studied using whole exome sequencing. A novel pathogenic variant in the ARL3 gene was identified, further supporting its association with non-syndromic retinal degeneration.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Clinical Neurology
Patrick H. Luckett, Charlie Chen, Brian A. Gordon, Julie Wisch, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Anne M. Fagan, Martin R. Farlow, Nick C. Fox, Mathias Jucker, Johannes Levin, Colin L. Masters, Hiroshi Mori, James M. Noble, Stephen Salloway, Peter R. Schofield, Adam M. Brickman, William S. Brooks, David M. Cash, Michael J. Fulham, Bernardino Ghetti, Clifford R. Jack, Jonathan Voeglein, William E. Klunk, Robert Koeppe, Yi Su, Michael Weiner, Qing Wang, Daniel Marcus, Deborah Koudelis, Nelly Joseph-Mathurin, Lisa Cash, Russ Hornbeck, Chengjie Xiong, Richard J. Perrin, Celeste M. Karch, Jason Hassenstab, Eric McDade, John C. Morris, Tammie L. S. Benzinger, Randall J. Bateman, Beau M. Ances
Summary: This study analyzed 19 biomarkers of Alzheimer's disease using hierarchical clustering and feature selection, and found that amyloid and tau measures were the primary predictors. Emerging biomarkers of neuronal integrity and inflammation showed weaker predictive ability.
ALZHEIMERS & DEMENTIA
(2023)
Article
Neurosciences
Konstantinos Chiotis, Charlotte Johansson, Elena Rodriguez-Vieitez, Nicholas J. Ashton, Kaj Blennow, Henrik Zetterberg, Caroline Graff, Agneta Nordberg
Summary: Plasma GFAP concentration and astrocyte 11C-DED brain binding levels showed a negative correlation in both sporadic and Autosomal Dominant Alzheimer's disease. It suggests that they may reflect different states or subtypes of astrogliosis. Increased 11C-DED brain binding appears to occur earlier in the progression of Alzheimer's disease than increased plasma GFAP concentration.
MOLECULAR NEURODEGENERATION
(2023)
Article
Medicine, General & Internal
Jin Liu, Kana Fujikura, Hreedi Dev, Sadjad Riyahi, Jon Blumenfeld, Jiwon Kim, Hanna Rennert, Martin R. Prince
Summary: This study investigated the potential association of pericardial effusion with autosomal dominant polycystic kidney disease (ADPKD). The results showed that pericardial effusion was more prevalent in ADPKD subjects compared to controls. Pericardial effusion thickness was associated with female gender patients and pleural effusion thickness. Although no clinical significance was identified in this retrospective cross-sectional study, further investigations may help to understand the role of pericardial effusion in ADPKD.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Clinical Neurology
Patrick H. Luckett, Austin McCullough, Brian A. Gordon, Jeremy Strain, Shaney Flores, Aylin Dincer, John McCarthy, Todd Kuffner, Ari Stern, Karin L. Meeker, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Anne M. Fagan, Martin R. Farlow, Nick C. Fox, Mathias Jucker, Johannes Levin, Colin L. Masters, Hiroshi Mori, James M. Noble, Stephen Salloway, Peter R. Schofield, Adam M. Brickman, William S. Brooks, David M. Cash, Michael J. Fulham, Bernardino Ghetti, Clifford R. Jack, Jonathan Voeglein, William Klunk, Robert Koeppe, Hwamee Oh, Yi Su, Michael Weiner, Qing Wang, Laura Swisher, Dan Marcus, Deborah Koudelis, Nelly Joseph-Mathurin, Lisa Cash, Russ Hornbeck, Chengjie Xiong, Richard J. Perrin, Celeste M. Karch, Jason Hassenstab, Eric McDade, John C. Morris, Tammie L. S. Benzinger, Randall J. Bateman, Beau M. Ances
Summary: Machine learning models were used to discover novel disease trajectories for autosomal dominant Alzheimer's disease, with results suggesting a sigmoidal trajectory for amyloid, a biphasic response for metabolism, and a gradual decrease in volume, with disease progression primarily in subcortical, middle frontal, and posterior parietal regions.
ALZHEIMERS & DEMENTIA
(2021)
Review
Ophthalmology
Malena Daich Varela, Tassos Georgiadis, Michel Michaelides
Summary: Inherited retinal diseases (IRDs) have been a significant area of gene therapy development in the past decade, with over 40 clinical trials completed or ongoing. Recently, there has been progress in targeting autosomal dominant diseases, such as retinitis pigmentosa, using novel therapeutic approaches like antisense oligonucleotide therapy. Autosomal dominant IRDs are less common but tend to have milder symptoms and later onset compared to autosomal recessive diseases. Various strategies, including zinc fingers, RNA interference, antisense oligonucleotides, translational read-through therapy, and gene editing, are currently being investigated for their potential in treating IRDs.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Francisco Lopera, Claudia Marino, Anita S. Chandrahas, Michael O'Hare, Nelson David Villalba-Moreno, David Aguillon, Ana Baena, Justin S. Sanchez, Clara Vila-Castelar, Liliana Ramirez Gomez, Natalia Chmielewska, Gabriel M. Oliveira, Jessica Lisa Littau, Kristin Hartmann, Kyungeun Park, Susanne Krasemann, Markus Glatzel, Dorothee Schoemaker, Lucia Gonzalez-Buendia, Santiago Delgado-Tirado, Said Arevalo-Alquichire, Kahira L. Saez-Torres, Dhanesh Amarnani, Leo A. Kim, Randall C. Mazzarino, Harper Gordon, Yamile Bocanegra, Andres Villegas, Xiaowu Gai, Moiz Bootwalla, Jianling Ji, Lishuang Shen, Kenneth S. Kosik, Yi Su, Yinghua Chen, Aaron Schultz, Reisa A. Sperling, Keith Johnson, Eric M. Reiman, Diego Sepulveda-Falla, Joseph F. Arboleda-Velasquez, Yakeel T. Quiroz
Summary: This case report describes an individual heterozygous for a rare RELN-COLBOS variant that confers resilience to Alzheimer's disease. Comparison with a previously reported case revealed common features, including high amyloid plaque burden and limited Tau tangle burden. The individual carried a rare variant in the RELN gene and showed stronger activation of Dab1 and reduced Tau phosphorylation. This genetic variant suggests a role for RELN signaling in resilience to dementia.
Review
Medicine, Research & Experimental
Salvatore Marco Caruso, Peter M. J. Quinn, Bruna Lopes da Costa, Stephen H. Tsang
Summary: This article details recent advancements in CRISPR therapeutics for treating a wide range of autosomal dominant disorders and discusses how these advancements are shaping the future of therapies.
JOURNAL OF CLINICAL INVESTIGATION
(2022)
Article
Clinical Neurology
Charlotte Johansson, Steinunn Thordardottir, Jose Laffita-Mesa, Elena Rodriguez-Vieitez, Henrik Zetterberg, Kaj Blennow, Caroline Graff
Summary: The study describes plasma biomarkers in a Swedish cohort of patients with monogenic Alzheimer's disease. Plasma GFAP increases before P-tau181 and NfL, indicating that it reflects early Alzheimer's disease pathology. Plasma biomarkers may be non-invasive tools to detect Alzheimer's disease-related abnormalities. However, further validation is needed.
Review
Geriatrics & Gerontology
Qiongqiong Qiu
Summary: Alzheimer's disease is the most common form of dementia with no cure. Research on early biomarkers and functional connectivity changes in the brain is crucial for early detection and intervention.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Neurosciences
Hanako Aoki, Miwa Higashi, Michi Okita, Noboru Ando, Shigeo Murayama, Kinya Ishikawa, Takanori Yokota
Summary: This study investigated the expression and function of the TK2 gene in spinocerebellar ataxia type 31 (SCA31) and compared it with mitochondrial DNA depletion syndrome (MDS). The results showed that the expression and function of TK2 were preserved in SCA31 patients, indicating a mechanism distinct from MDS.
Article
Medicine, General & Internal
Kotaro Noda, Nobuyuki Nosaka, Nobuhiro Hara, Takanori Yokota, Hidenobu Shigemitsu, Hideo Takahashi
Summary: This study reports a case of a 93-year-old woman initially diagnosed with acute myocardial infarction, but further examination revealed that her throat pain was not cardiac in origin, but rather due to upper esophageal perforation with acute mediastinitis. Clinicians should be vigilant in similar cases.
Article
Clinical Neurology
Yurie Nose, Ikuko Uwano, Ukihide Tateishi, Makoto Sasaki, Takanori Yokota, Nobuo Sanjo
Summary: Deferiprone administration significantly improved radiological and clinical outcomes in patients with postoperative superficial siderosis. Earlier and longer courses of deferiprone could result in better patient prognosis.
JOURNAL OF NEUROLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Rieko Nishi, Masaki Ohyagi, Tetsuya Nagata, Yo Mabuchi, Takanori Yokota
Summary: In this study, we demonstrate the therapeutic potential of systemically administered Chol-HDO to regulate activated Mg/M9 in neuroinflammation.
Article
Geriatrics & Gerontology
Genki Tohnai, Ryoichi Nakamura, Naoki Atsuta, Masahiro Nakatochi, Naoki Hayashi, Daisuke Ito, Hazuki Watanabe, Hirohisa Watanabe, Masahisa Katsuno, Yuishin Izumi, Akira Taniguchi, Kazuaki Kanai, Mitsuya Morita, Osamu Kano, Satoshi Kuwabara, Masaya Oda, Koji Abe, Masashi Aoki, Ikuko Aiba, Koichi Okamoto, Kouichi Mizoguchi, Tomohiko Ishihara, Akihiro Kawata, Takanori Yokota, Kazuko Hasegawa, Isao Nagano, Ichiro Yabe, Fumiaki Tanaka, Satoshi Kuru, Nobutaka Hattori, Kenji Nakashima, Ryuji Kaji, Gen Sobue
Summary: This study aimed to determine the frequencies and characteristics of DNAJC7 gene variants in a Japanese ALS cohort. Rare missense variants and one splice-site variant of DNAJC7 were detected in 807 Japanese patients with sporadic ALS. The variants were located around the TPR domain and the estimated frequency of DNAJC7 variants in Japanese ALS patients was 0.87%.
NEUROBIOLOGY OF AGING
(2022)
Editorial Material
Clinical Neurology
Yoichiro Nishida, Taro Ishiguro, Takanori Yokota
Article
Microscopy
Akane Yamada, Yoichiro Nishida, Kenjiro Wake, Ayako Nakamura, Yuriko Sakamaki, Hiroya Kuwahara, Toshiki Uchihara, Takanori Yokota
Summary: This study presents the first ultrastructural demonstration of GLUT1 molecules in coated vesicles, providing an explanation for its functional relevance in transporting glucose across BCECs. The successful localization of molecules in relation to target structures in native tissue samples helps to understand their functional relevance and their relationship to ultrastructural details.
Article
Endocrinology & Metabolism
Akiko Miyashita, Masaki Kobayashi, Satoru Ishibashi, Tetsuya Nagata, Ambika Chandrasekhar, Douglas W. Zochodne, Takanori Yokota
Summary: This study investigated the impact of silencing MALAT1 on the peripheral nervous system of diabetic mice. The results showed that silencing MALAT1 exacerbated the disease, indicating its important role in neuroprotection and splicing regulation in diabetic polyneuropathy. This study also demonstrated for the first time that a systemically delivered nucleotide therapy can directly influence DRG diabetic neurons and their axons.
Article
Cell Biology
Thunyarut Bannawongsil, Akane Yamada, Ayako Nakamura, Toshiki Uchihara, Takanori Yokota
Summary: This study demonstrates for the first time the neuronal redistribution of injected IgG in the mouse brain. Neuronal internalization of exogenous IgG may be advantageous especially when the therapeutic targets of monoclonal IgG are intraneuronal.
HISTOCHEMISTRY AND CELL BIOLOGY
(2022)
Letter
Clinical Neurology
Ryo Iwase, Tadashi Kanouchi, Toshitaka Yoshii, Taro Ishiguro, Takashi Hirai, Atsushi Okawa, Takanori Yokota, Nobuo Sanjo
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Taiki Matsubayashi, Miho Akaza, Yuichi Hayashi, Tsuyoshi Hamaguchi, Katsuya Satoh, Koki Kosami, Ryusuke Ae, Tetsuyuki Kitamoto, Masahito Yamada, Takayoshi Shimohata, Takanori Yokota, Nobuo Sanjo
Summary: Studies on the very early electroencephalography features prior to the emergence of generalized periodic discharges in Creutzfeldt-Jakob disease are rare. This study analyzed the EEG features of patients with sporadic CJD and found that the EEG characteristics varied among different types of CJD. The MRI results also showed differences. The findings suggest that early EEG may contribute to the early diagnosis of CJD.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Neurosciences
Kaori Taniguchi, Fumiko Yamamoto, Akiko Amano, Akira Tamaoka, Nobuo Sanjo, Takanori Yokota, Fuyuki Kametani, Wataru Araki
Summary: Recent evidence suggests that soluble amyloid-beta oligomers (AβOs) play a key role in the development of Alzheimer's disease (AD). AβOs induce neurotoxic and synaptotoxic effects by binding to certain receptors, specifically the GluN2B subunits of NMDA receptors and mGluR1. This study highlights the significance of these receptors in synaptic pathology in AD.
NEUROSCIENCE RESEARCH
(2022)
Article
Multidisciplinary Sciences
Miho Uematsu, Kyohei Mikami, Ayako Nakamura, Ryosuke Takahashi, Takanori Yokota, Katsuiku Hirokawa, Toshiki Uchihara
Summary: Cadmium selenide quantum dots (QDs) can be used as fluorescent markers for immunolabeling and their visibility can be enhanced by gold enhancement, allowing for direct comparison on light and electron microscopy. Gold-enhanced QDs are easily recognized on electron microscopy and facilitate trimming of target structures on histological sections. Gold enhancement can also be used for double immunolabeling and comparison between light and electron microscopy.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, Research & Experimental
Hidetoshi Kaburagi, Tetsuya Nagata, Mitsuhiro Enomoto, Takashi Hirai, Masaki Ohyagi, Kensuke Ihara, Kie Yoshida-Tanaka, Satoe Ebihara, Ken Asada, Hiroyuki Yokoyama, Atsushi Okawa, Takanori Yokota
Summary: Neuropathic pain is a common condition with limited treatment options. This study demonstrates that a DNA/RNA heteroduplex oligonucleotide technology can effectively suppress gene expression related to neuropathic pain when delivered intravenously. This finding establishes a potential therapeutic platform for neuropathic pain and peripheral nerve disease.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Clinical Neurology
Kentaro Nanatsue, Makoto Takahashi, Sakiko Itaya, Keisuke Abe, Akira Inaba
Summary: This case report highlights a potential neurological side effect of the Moderna COVID-19 vaccine, as the patient developed Miller-Fisher syndrome after vaccination.