Article
Immunology
Geraldine Blanchard-Rohner, Anna Peirolo, Ludivine Coulon, Christian Korff, Judit Horvath, Pierre R. Burkhard, Fabienne Gumy-Pause, Emmanuelle Ranza, Peter Jandus, Harpreet Dibra, Alexander Malcolm R. Taylor, Joel Fluss
Summary: Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder characterized by various symptoms. This study presents a case series highlighting the phenotypic variability of A-T and emphasizes the importance of early diagnosis of variant A-T and classical A-T.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medical Laboratory Technology
Chunyu Gu, Hong Wang, Jianbo Shu, Jie Zheng, Dong Li, Chunquan Cai, Peiyuan Zhang
Summary: This study described atypical symptoms of A-T in a 5-year-old girl and proposed a dual-omics diagnostic approach combining RNA-seq with WES. The study also discussed phenotypic heterogeneity of A-T among family members and individuals.
CLINICA CHIMICA ACTA
(2021)
Review
Clinical Neurology
Li Shao, Haoyi Wang, Jianbo Xu, Ming Qi, Zhaonan Yu, Jing Zhang
Summary: This study presented a Chinese patient with A-T carrying compound heterozygous variants in the ATM gene and reviewed the literature for A-T in China. It found a significant delay in the diagnosis of A-T and a subset of patients without immunodeficiency. These results extend the genotype spectrum of A-T in the Chinese population and suggest the need for improved diagnosis of A-T in China.
FRONTIERS IN NEUROLOGY
(2023)
Article
Cell Biology
Maria Likhatcheva, Roben G. Gieling, James A. L. Brown, Constantinos Demonacos, Kaye J. Williams
Summary: Genotoxic stress can activate the ATM kinase, with potential involvement of Suv39H1 and Tip60 in ATM activation under hypoxic conditions.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Cell Biology
Venturina Stagni, Alessandra Ferri, Claudia Cirotti, Daniela Barila
Summary: There is a strong interplay between autophagy and genomic stability, with recent evidence linking DNA Damage Response (DDR) and autophagy in influencing cell fate. ATM kinase plays a crucial role in balancing senescence and apoptosis in response to stimuli, and its aberrant deregulation is linked to the development of pathologies like cancer and neurodegeneration.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Sara Biagiotti, Ambra Barone, Mattia Paolo Aliano, Giulia Federici, Marco Malatesta, Caterina Caputi, Silvia Soddu, Vincenzo Leuzzi, Luciana Chessa, Mauro Magnani
Summary: Most ATM variants associated with Ataxia Telangiectasia are classified as variants with uncertain significance. This study focused on a specific ATM variant found in Lebanese brothers, revealing it to be pathogenic even though it causes an atypical phenotype. Dexamethasone showed therapeutic potential on this and possibly other missense ATM variants.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Sapir Schlam-Babayov, Ariel Bensimon, Michal Harel, Tamar Geiger, Ruedi Aebersold, Yael Ziv, Yosef Shiloh
Summary: This study conducted a comprehensive phosphoproteomic analysis in human wild-type and A-T cells to reveal the fine-tuned dynamics and relationships between PIKKs in the response to genotoxic stress. The results highlight the complex interactions among ATM, ATR, and DNA-PK in the DDR.
Article
Immunology
Ruth Pia Duecker, Lucia Gronau, Patrick C. Baer, Stefan Zielen, Ralf Schubert
Summary: Our study focused on investigating the feasibility of different approaches of hematopoietic stem cell transplantation (HSCT) for Ataxia-telangiectasia (A-T) by using Atm-deficient mice as models. The results showed that haploidentical HSCT could extend the lifespan of Atm-deficient mice and improve T-cell numbers and functionality. Interestingly, HSCT using heterozygous donor cells also led to improved survival and enhanced CD4 cell functionality in Atm-deficient mice, suggesting it as a potential strategy for A-T treatment.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Multidisciplinary Sciences
Changwei Chen, Jennifer R. Gallagher, Jamie Tarlton, Lidy van Aalten, Susan E. Bray, Michael L. J. Ashford, Rory J. McCrimmon, Ewan R. Pearson, Alison D. McNeilly, Calum Sutherland
Summary: Genotype may influence the therapeutic effects of metformin for type-2 diabetes, and the NPAT gene may play a role in the mechanism of metformin action.
Article
Oncology
Michelle F. Jacobs, Dan Robinson, Yi-Mi Wu, Valerie P. Opipari, Rajen Mody
Summary: This report describes a case of a patient with a history of leukemia and alpha beta hepatosplenic T-cell lymphoma who was diagnosed with ataxia telangiectasia through paired tumor-germline testing. The analysis identified a homozygous pathogenic variant in the ATM gene and uniparental isodisomy as the likely cause of autosomal recessive ataxia telangiectasia. This highlights the importance of considering uniparental isodisomy in the etiology of autosomal recessive conditions.
Article
Neurosciences
Azam Pourahmadiyan, Paria Alipour, Neda Golchin, Mohammad Amin Tabatabaiefar
Summary: A rare homozygous stop-gain variant in the ATM gene was identified in a Persian patient with typical A-T, with implications for molecular diagnostics in Iran.
INTERNATIONAL JOURNAL OF NEUROSCIENCE
(2022)
Article
Oncology
Madeline B. Torres, Laurence P. Diggs, Jun S. Wei, Javed Khan, Markku Miettinen, Grace-Ann Fasaye, Andy Gillespie, Brigitte C. Widemann, Rosandra N. Kaplan, Jeremy L. Davis, Jonathan M. Hernandez, Jaydira Del Rivero
Summary: Adrenocortical carcinoma (ACC) is a rare malignancy originating from the adrenal cortex, and surgery is currently the only curative option. This study reports a pathogenic variant in the ATM gene in a patient with ACC, suggesting a potential pathogenic role of ATM gene in certain ACC cases.
Article
Immunology
Maria Giovanna Desimio, Andrea Finocchi, Gigliola Di Matteo, Silvia Di Cesare, Carmela Giancotta, Francesca Conti, Luciana Chessa, Maria Piane, Davide Montin, Marta Dellepiane, Paolo Rossi, Caterina Cancrini, Margherita Doria
Summary: NK cells in A-T patients show reduced NKG2D expression, possibly contributing to increased susceptibility. The abnormal expression of NKG2D in A-T patients may be associated with disease progression.
CLINICAL IMMUNOLOGY
(2021)
Article
Oncology
Yousra Ajouaou, Elena Magnani, Bhavani Madakashira, Eleanor Jenkins, Kirsten C. Sadler
Summary: Research on zebrafish demonstrates that overexpression of the UHRF1 gene causes a small liver, while mutation of the Atm gene exacerbates this phenomenon. It is also found that oxidative stress is one of the causes of the small liver, and the Atm gene can alleviate the effects of this stress.
Article
Neurosciences
Hadar Levi, Ela Bar, Stav Cohen-Adiv, Suzan Sweitat, Sivan Kanner, Ronit Galron, Yulia Mitiagin, Ari Barzilai
Summary: Ataxia-telangiectasia (A-T) is a genetic disease characterized by cerebellar issues and immune deficiency. Recent research suggests that specific vulnerabilities of cerebellar microglia may play a key role in the pathogenesis of A-T.
Article
Clinical Neurology
J. Bistritzer, I. Noyman, G. Hazan, E. Hershkovitz, A. Haim
CLINICAL NEUROLOGY AND NEUROSURGERY
(2020)
Article
Pediatrics
Inbal Golan-Tripto, Jacob Bistritzer, Neta Loewenthal, Orna Staretz-Chacham, Yotam Dizitzer, Aviv Goldbart
PEDIATRIC PULMONOLOGY
(2020)
Article
Clinical Neurology
Karlijn Bouman, Jeroen L. M. van Doorn, Jan T. Groothuis, Peter J. Wijkstra, Baziel G. M. van Engelen, Corrie E. Erasmus, Jonne Doorduin, Nicol C. Voermans
Summary: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Oliviero Bruni, Maria Breda, Emanuela Malorgio, Paolo Brambilla, Flavia Ceschin, Andrea Di Pilla, Maurizio Elia, Raffaele Ferri
Summary: This study aimed to describe the use of melatonin by Italian pediatricians in healthy children with chronic insomnia. The results showed that a high percentage of pediatricians prescribed melatonin, especially in children aged 1-2 years. The most common dosage was 1 mg/day and it was usually recommended to be taken 30 minutes before bedtime. Melatonin was often combined with sleep hygiene and was found to be effective in reducing difficulties falling asleep.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassuthova
Summary: In this study, whole exome sequencing (WES) was performed to identify causal variants for developmental and epileptic encephalopathies (DEEs) in patients whose genetic diagnosis was not determined by gene panel testing. The results showed that WES can successfully identify disease-causing variants, even after inconclusive gene panel testing. Detailed clinical evaluations and phenotype-genotype correlation studies were conducted to better understand the rare subtypes of DEEs.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)