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(Ataxia)
51,467 results
  • Rare case of anti-CV2 paraneoplastic polyneuropathy associated with lung adenocarcinoma. [Journal Article]
    BMJ Case Rep. 2023 Feb 03; 16(2)Lizwan M, Lin SZZ, Sonu SK
  • We describe the first case of anti-CV2 paraneoplastic polyneuropathy associated with lung adenocarcinoma. Our patient presented with progressive unsteadiness and numbness involving bilateral upper and lower limbs. He had symmetrical length-dependent lower motor neuron pattern of weakness and numbness involving both small and large fibres with prominent sensory ataxia. An extended workup for the p…
  • Probable association between mRNA COVID-19 vaccine and opsoclonus-myoclonus-ataxia syndrome. [Case Reports]
    J AAPOS. 2023 Jan 31 [Online ahead of print]Deniz A, Alikılıç D, … Kara B
  • Opsoclonus-myoclonus-ataxia syndrome (OMAS) in children is most often of paraneoplastic origin, but it can also result from infectious processes, toxic and metabolic disorders, and organic events that cause damage to the brainstem or cerebellum. Post-vaccination OMAS has also been reported. We report the case of a 15-year-old girl who developed OMAS 24 hours after her first dose of mRNA COVID-19 …
  • An extradural cyst in a French Bulldog. [Journal Article]
    N Z Vet J. 2023 Feb 03 [Online ahead of print]Philips R, Chase D, … Kiupel M
  • A 7-year-old, male neutered French Bulldog was referred to a specialist veterinary hospital for evaluation of a progressive paraparesis of 6-months' duration. The owners reported both faecal and urinary incontinence at home.
  • AZD6738 promotes the tumor suppressive effects of trifluridine in colorectal cancer cells. [Journal Article]
    Oncol Rep. 2023 Mar; 49(3)Harata S, Suzuki T, … Takiguchi S
  • Ataxia telangiectasia and Rad3‑related (ATR) is a kinase that repairs DNA damage. Although inhibitors that selectively target ATR have been developed, their effectiveness in colorectal cancer has not been widely reported. The present study hypothesized that anticancer agents that effectively act in the S phase before the G2/M checkpoint may be ideal agents for concomitant use with ATR inhibitors,…
  • Iron Metabolism in Cardiovascular Disease: Physiology, Mechanisms, and Therapeutic Targets. [Review]
    Circ Res. 2023 Feb 03; 132(3):379-396.Sawicki KT, De Jesus A, Ardehali H
  • The cardiovascular system requires iron to maintain its high energy demands and metabolic activity. Iron plays a critical role in oxygen transport and storage, mitochondrial function, and enzyme activity. However, excess iron is also cardiotoxic due to its ability to catalyze the formation of reactive oxygen species and promote oxidative damage. While mammalian cells have several redundant iron i…
  • Multifaceted nanoparticles: emerging mechanisms and therapies in neurodegenerative diseases. [Journal Article]
    Brain. 2023 Feb 02 [Online ahead of print]Mistretta M, Farini A, … Villa C
  • Neurodegenerative diseases are a major global health burden particularly with the increasing ageing population. Hereditary predisposition and environmental risk factors contribute to the heterogeneity of existing pathological phenotypes. Traditional clinical interventions focused on the use of small drugs have often led to failures due to the difficulties of crossing the blood-brain-barrier and r…
  • BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening. [Journal Article]
    Brain. 2023 Feb 02 [Online ahead of print]Tangeraas T, Constante JR, … García-Cazorla A
  • There are few causes of treatable neurodevelopmental diseases described to date. Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability, and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic…
  • A Pilot Study to Develop Paraneoplastic Cerebellar Degeneration Mouse Model. [Journal Article]
    Cerebellum. 2023 Feb 02 [Online ahead of print]Faure F, Yshii L, … Honnorat J
  • Modeling paraneoplastic neurological diseases to understand the immune mechanisms leading to neuronal death is a major challenge given the rarity and terminal access of patients' autopsies. Here, we present a pilot study aiming at modeling paraneoplastic cerebellar degeneration with Yo autoantibodies (Yo-PCD). Female mice were implanted with an ovarian carcinoma cell line expressing CDR2 and CDR2…
  • Targeted thorium-227 conjugates as treatment options in oncology. [Review]
    Front Med (Lausanne). 2022; 9:1071086.Karlsson J, Schatz CA, … Hagemann UB
  • Targeted alpha therapy (TAT) is a promising approach for addressing unmet needs in oncology. Inherent properties make α-emitting radionuclides well suited to cancer therapy, including high linear energy transfer (LET), penetration range of 2-10 cell layers, induction of complex double-stranded DNA breaks, and immune-stimulatory effects. Several alpha radionuclides, including radium-223 (223Ra), a…
  • Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models. [Journal Article]
    BMC Biol. 2023 Feb 01; 21(1):17.Joachimiak P, Ciesiołka A, … Fiszer A
  • CONCLUSIONS: Using allele-specific ddPCR assays, we observed differences in allele expression levels in the context of SCA3 and HD. Our allele-selective approach is a reliable and quantitative method to analyze low abundant transcripts and is performed with high accuracy and reproducibility. Therefore, the use of this approach can significantly improve understanding of allele-related mechanisms, e.g., related with mRNA processing that may be affected in polyQ diseases.
  • Between Order and Chaos: Understanding the Mechanism and Pathology of RAN Translation. [Review]
    Biol Pharm Bull. 2023; 46(2):139-146.Reyes CJF, Asano K
  • Repeat-associated non-AUG (RAN) translation is a pathogenic mechanism in which repetitive sequences are translated into aggregation-prone proteins from multiple reading frames, even without a canonical AUG start codon. Since its discovery in spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1), RAN translation is now known to occur in the context of 12 disease-linked repeat ex…
  • BDNF is altered in a brain-region specific manner and rescues deficits in Spinocerebellar Ataxia Type 1. [Journal Article]
    Neurobiol Dis. 2023 Jan 29 [Online ahead of print]Rosa JG, Hamel K, … Cvetanovic M
  • Spinocerebellar ataxia type 1 (SCA1) is an adult-onset, dominantly inherited neurodegenerative disease caused by the expanded polyQ tract in the protein ATAXIN1 (ATXN1) and characterized by progressive motor and cognitive impairments. There are no disease-modifying treatments or cures for SCA1. Brain-derived neurotrophic factor (BDNF) plays important role in cerebellar physiology and has shown th…
  • The safety of perampanel in different disorders and doses: A meta-analysis. [Review]
    Seizure. 2023 Jan 20; 106:22-28.Liu P, Zhu Z, Wu H
  • CONCLUSIONS: The safety profile of perampanel is dependent on diseases and dose. The risk of adverse events was statistically significantly higher, with doses exceeding 4 mg/day. Despite a higher risk of adverse events, patients with epilepsy had a lower perampanel discontinuation rate than patients with other disorders.
  • CRISPR metabolic screen identifies ATM and KEAP1 as targetable genetic vulnerabilities in solid tumors. [Journal Article]
    Proc Natl Acad Sci U S A. 2023 Feb 07; 120(6):e2212072120.Li H, Liu Y, … Weyemi U
  • Cancer treatments targeting DNA repair deficiencies often encounter drug resistance, possibly due to alternative metabolic pathways that counteract the most damaging effects. To identify such alternative pathways, we screened for metabolic pathways exhibiting synthetic lethality with inhibition of the DNA damage response kinase Ataxia-telangiectasia-mutated (ATM) using a metabolism-centered Clust…
  • Otitis media with effusion in two Boston terrier dogs. [Case Reports]
    Vet Med Sci. 2023 Feb 01 [Online ahead of print]Souza CP, Foss KD, … Clegg JL
  • Otitis media (OM) in dogs can occur as a primary condition instead of as an extension of an otitis externa (OE), characterized by the presence of fluid in the middle ear (ME) referred to as OM with effusion (OME). OME has been reported in a brachycephalic breed (boxer), and the same condition is described as primary secretory OM in Cavalier King Charles Spaniels. These dogs can be asymptomatic or…
  • Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder. [Journal Article]
    J Genet. 2023; 102Atemin S, Todorov T, … Todorova A
  • Arginase deficiency is an autosomal recessive urea cycle disorder caused by pathogenic variants in the ARG1 gene. The clinical features of the disease include spasticity, tremour, ataxia, hypotonia, microcephaly and seizures. Growth delay can also be observed in the affected individuals. Here we describe the results from molecular-genetic analysis of two patients with arginase deficiency. In the …
  • Clinical and MRI characteristics of multiple sclerosis in Iranian Children and Adolescents. [Journal Article]
    Iran J Child Neurol. 2023 Winter; 17(1):91-98.Nasehi MM, Nikkhah A, … Moosazadeh M
  • CONCLUSIONS: In our study, the most frequent signs and symptoms were eye symptoms, brainstem signs, cerebellar signs and pyramidal signs, respectively. Moreover, our results showed that MRI plays a critical role in the diagnostic evaluation of MS in children with presence of brain lesions in all patients and spinal lesion in a considerable portion of patients.
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