Management of Wernicke's encephalopathy in a pregnant woman at 27 weeks gestation complicated by pre-eclampsia: A case report by Amine Bensaid, Marouane Boukroute, Safae Bekkaoui, Hajar Berrichi, Abdelilah Elrhalete, Hamza Mimouni, Younes Oujidi, Houssam Bkiyar, Brahim Housni, Ahmed Mimouni

“…This case report details a 38-year-old woman at 27 weeks of gestation who developed altered consciousness, cerebellar ataxia, and hyperlactatemia following persistent vomiting. …”
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Intravascular large B-cell lymphoma of the central nervous system with renal involvement: a case report and literature review by Jun Li, Zhaojiao Li, Yifeng Shi, Jiajie Chen, Heng Zhao, Xueye Mao, Shan Li, Huiying Wang, Qiang Meng, Lingchun Liu

“…We report a case of a patient with recurrent stroke-like symptoms, primarily characterized by hemiplegia, vertigo, ataxia, and proteinuria. Brain MRI revealed multiple cerebral infarctions, microbleeds, and meningeal enhancement. …”
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A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa by Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY

“…This disorder is characterized by developmental delay, cognitive impairment, and infantile hypotonia that may evolve into ataxia. Mutations in OFD1 results in Joubert syndrome with a variety of phenotypes. …”
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Comparison of clinical variables and outcome of 2 natural equine herpesvirus myeloencephalopathy outbreaks induced by equine herpesvirus‐1 A2254/N752 strain in sport horses by María de laCuesta‐Torrado, Ana Velloso Alvarez, José Miguel Cárdenas‐Rebollo, Patricia Neira‐Egea, Valentina Vitale, Juan Cuervo‐Arango

“…Hospitalization duration was longer in 2021 than in 2023 (P = .06) and 11.7% of horses from 2021 returned to competition within 6 months, whereas 100% in 2023 did (P < .001). Ataxia grade upon admission was equivalent in 2021 and 2023, but factors related to poor prognosis, such as simultaneous development of urinary and vascular complications, occurred in 2021 but not in 2023 (P = .01). …”
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Intratumor heterogeneity of HPV integration in HPV-associated head and neck cancer by Noah Sasa, Toshihiro Kishikawa, Masashi Mori, Rie Ito, Yumie Mizoro, Masami Suzuki, Hirotaka Eguchi, Hidenori Tanaka, Takahito Fukusumi, Motoyuki Suzuki, Yukinori Takenaka, Keisuke Nimura, Yukinori Okada, Hidenori Inohara

“…Heterozygous loss of ataxia-telangiectasia mutated (ATM) was observed in 67% of tumors, with its downregulation confirmed by single-cell RNA sequencing and immunohistochemistry, suggesting ATM haploinsufficiency contributes to carcinogenesis. …”
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A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants by Bashar Kamal Ali Douden, Yazan Mohammad Abdullah Abufara, Mahmood Fayez Ali Aldrabeeh, Naela Ramadan Mohammad Tell, Ismail Abudaya

“…It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. …”
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<i>Toxoplasma gondii</i> and Rabies—The Parasite, the Virus, or Both? by Ragan Wilson, Shannon Caseltine, Edith Will, Jeremiah Saliki, Ruth C. Scimeca

“…Anamnesis in some of the <i>T. gondii</i>-positive samples included ataxia, aggression, muscle rigidity, lethargy, and seizures, with the latter also described in dogs and aggression in the positive bovine sample. …”
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A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

“…He was stunted and underweight. He had ataxia, limb dyskinesia, triangular face, microcephaly, upward slanting palpebral fissure, hypertelorism, retrognathia, posteriorly rotated ears, long philtrum, thin lips, broad nasal tip, polydactyly, tappering fingers, and decreased tone in the upper and lower limbs with normal deep tendon reflexes. …”
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Association of ATM Gene Polymorphism with PTC Metastasis in Female Patients by Yulu Gu, Xiaoli Liu, Yaqin Yu, Jieping Shi, Lizhe Ai, Hui Sun, Joseph Sam Kanu, Chong Wang, Yawen Liu

“…Ataxia telangiectasia mutated (ATM) gene is critical in the process of recognizing and repairing DNA lesions and is related to invasion and metastasis of malignancy. …”
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Benefits and harms of pregabalin in the management of neuropathic pain: a rapid review and meta-analysis of randomised clinical trials by Igho J Onakpoya, Elizabeth T Thomas, Joseph J Lee, Ben Goldacre, Carl J Heneghan

“…The risks of experiencing weight gain, somnolence, dizziness, peripheral oedema, fatigue, visual disturbances, ataxia, non-peripheral oedema, vertigo and euphoria were significantly increased with pregabalin. …”
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Neurofilament Light Chain Levels in Serum and Cerebrospinal Fluid Do Not Correlate with Survival Times in Patients with Prion Disease by Mika Shimamura, Kong Weijie, Toshiaki Nonaka, Koki Kosami, Ryusuke Ae, Koji Fujita, Taiki Matsubayashi, Tadashi Tsukamoto, Nobuo Sanjo, Katsuya Satoh

“…This accumulation disrupts neuronal functions, leading to the rapid onset of psychiatric symptoms, ataxia, and cognitive decline. The urgency of timely diagnosis for effective treatment necessitates the identification of strongly correlated biomarkers in bodily fluids, which makes our research crucial. …”
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Effect of Respiratory Training on Dysphagia in Children with Cerebral Palsy by Qishan LIU, Haofeng MO, Xiaofang CHEN

“…The degree and grade of dysphagia were assessed by DDS before and after treatment, and the curative effect was assessed by Fujima Ichiro's dysphagia evaluation criteria before and after treatment.Results:There was no significant difference in DDS scores and dysphagia grade between the two groups before treatment(<italic>P</italic>&gt;0.05).After three months of treatment, the DDS scores of two groups showed significant improvement compared with those before treatment(<italic>P</italic>&lt;0.05).The total scores of DDS, oral and pharyngeal stages in the observation group were(5.33±3.08), (4.63±2.23), (0.70±0.78)respectively, which were better than those in the control group(7.20±3.43), (5.58±2.13), (1.81±1.38).The differences were statistically significant(<italic>P</italic>&lt;0.05).The DDS score in oesophagus stage of the observation group was(0.06±0.24)and that of the control group was(0.08±0.28).There was no significant difference between the two groups(<italic>P</italic>&gt;0.05).The DDS scores of children with spastic quadriplegia, involuntary motor type and mixed cerebral palsy before and after treatment in the two groups were significantly improved compared with those before treatment(<italic>P</italic>&lt;0.05).The DDS scores of children with spastic quadriplegia, involuntary motor type and mixed cerebral palsy in the observation group(6.58±2.47), (4.57±2.10)and(4.57±2.59)were better than those in the control group(8.78±3.30), (6.41±2.35), (7.47±3.18), and there were significant differences between the two groups(<italic>P</italic>&lt;0.05).There was no significant difference in the sample size of ataxia and spastic hemiplegia children(<italic>P</italic>&gt;0.05).The degree of dysphagia was improved in the two groups before and after treatment, and the improvement in the observation group was more obvious than that in the control group(<italic>P</italic>&lt;0.05).The total effective rate of the observation group(87.50%)was better than that of the control group(70.83%), and the difference was statistically significant(<italic>P</italic>&lt;0.05).Conclusion:Respiratory training combined with basic swallowing training can significantly improve the symptoms of dysphagia in children with cerebral palsy.…”
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SLC22A1 rs622342 Polymorphism Predicts Insulin Resistance Improvement in Patients with Type 2 Diabetes Mellitus Treated with Metformin: A Cross-Sectional Study by Kunrong Wu, Xiaoli Li, Yuedong Xu, Xiaoqian Zhang, Ziwan Guan, Shufang Zhang, Yan Li

“…Organic cation transporter 1 (encoded by SLC22A1) is responsible for the transport of metformin, and ataxia-telangiectasia-mutated (ATM) is a gene relating to the DNA repair and cell cycle control. …”
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Autoimmune brainstem encephalitis: Clinical associations, outcomes, and proposed diagnostic criteria by Michael Gilligan, Smathorn Thakolwiboon, Emma Orozco, Samantha Banks, Eoin P. Flanagan, Sebastian Lopez‐Chiriboga, Jan‐Mendelt Tillema, John R. Mills, Sean J. Pittock, Cristina Valencia Sanchez, Anastasia Zekeridou, Divyanshu Dubey, Andrew McKeon

“…Frequent presenting features were ≥1: diplopia (80%), ataxia (78%), dysarthria (68%), vestibulocochlear symptoms (67%), dysphagia (61%), nausea/vomiting (42%), and facial weakness (32%). …”
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Blockades of effector T cell senescence and exhaustion synergistically enhance antitumor immunity and immunotherapy by Xia Liu, Emily Shaw, Fusheng Si, Guangyong Peng, Yan Tao, Feiya Ma, David Bagley, Yuanqin Zhang

“…Accumulated senescent T cells also exist in the TME in tumor models of lung cancer, breast cancer and melanoma. Induction of ataxia-telangiectasia mutated protein (ATM)-associated DNA damage is the cause for T cell senescence induced by both mouse tumor cells and Treg cells, which is also regulated by mitogen-activated protein kinase (MAPK) signaling. …”
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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

“…Usher syndrome was the most frequent etiology (71.4%) followed by Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract syndrome (6.0%), Autosomal dominant optic atrophy plus (4.8%) and cone-rod dystrophy and hearing loss (4.8%). …”
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FNDC5/irisin mitigates the cardiotoxic impacts of cancer chemotherapeutics by modulating ROS-dependent and -independent mechanisms by Manish Kumar, Abhishek Singh Sengar, Anushree Lye, Pranesh Kumar, Sukhes Mukherjee, Dinesh Kumar, Priyadip Das, Suvro Chatterjee, Adele Stewart, Biswanath Maity

“…Intriguingly, we identified two parallel signaling cascades impacted by FNDC5 in cardiomyocytes: the ROS-driven intrinsic mitochondrial apoptosis pathway and the ROS-independent Ataxia Telangiectasia and Rad3-Related Protein (ATR)/Checkpoint Kinase 1 (Chk1) pathway. …”
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Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families by Yang Cao, Xiaolong Zhang, Lan Lan, Danyang Li, Jin Li, Linyi Xie, Fen Xiong, Lan Yu, Xiaonan Wu, Hongyang Wang, Qiuju Wang

“…Hearing loss varied from mild to profound, with 57.1%(4/7) of patients having risk factors and 71.4%(5/7) exhibiting additional systemic symptoms such as muscle weakness, ataxia, and high arches. Functional enrichment analysis revealed that genes associated with non-isolated AN predominantly involve mitochondrial processes, affecting the central and peripheral nervous, musculoskeletal, and visual systems. …”
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The endocytic adaptor AP-2 maintains Purkinje cell function by balancing cerebellar parallel and climbing fiber synapses by Marianna Tolve, Janine Tutas, Ebru Özer-Yildiz, Ines Klein, Anne Petzold, Veronika J. Fritz, Melina Overhoff, Quinn Silverman, Ellie Koletsou, Filip Liebsch, Guenter Schwarz, Tatiana Korotkova, Silvana Valtcheva, Graziana Gatto, Natalia L. Kononenko

“…Using mouse genetics, viral tracing, calcium imaging, and kinematic analysis, we demonstrate that loss of the AP-2 μ subunit in Purkinje cells leads to early-onset ataxia and progressive degeneration. Synaptic dysfunction, marked by an overrepresentation of parallel fibers (PFs) over climbing fibers (CFs), precedes Purkinje cell loss. …”
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USP14 inhibition by degrasyn induces YAP1 degradation and suppresses the progression of radioresistant esophageal cancer by Fang Yuan, Juan Xu, Lingmei Xuan, Chan Deng, Wei Wang, Rong Yang

“…Furthermore, the combination of DGS and X-ray irradiation strongly induced DNA damage in radioresistant ESCA cell lines by increasing the phosphorylation levels of H2AX (γ-H2AX) and checkpoint kinase 1/ataxia-telangiectasia-mutated-and-Rad3-related kinase (CHK1/ATR) signaling. …”
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