- Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. [Letter]J Neurol Neurosurg Psychiatry. 2023 Feb 03 [Online ahead of print]JN
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- Rare case of anti-CV2 paraneoplastic polyneuropathy associated with lung adenocarcinoma. [Journal Article]BMJ Case Rep. 2023 Feb 03; 16(2)BC
- 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…
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- Probable association between mRNA COVID-19 vaccine and opsoclonus-myoclonus-ataxia syndrome. [Case Reports]J AAPOS. 2023 Jan 31 [Online ahead of print]JA
- 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 …
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- Acute and chronic convection-enhanced muscimol delivery into the rat subthalamic nucleus induces antiseizure effects associated with high responder rates. [Journal Article]Epilepsy Res. 2023 Jan 25; 190:107097.ER
- Intracerebral drug delivery is an emerging treatment strategy aiming to manage seizures in patients with systemic drug-resistant epilepsies. In rat seizure and epilepsy models, the GABAA receptor agonist muscimol has shown powerful antiseizure potential when injected acutely into the subthalamic nucleus (STN), known for its capacity to provide remote control of different seizure types. However, c…
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- An extradural cyst in a French Bulldog. [Journal Article]N Z Vet J. 2023 Feb 03 [Online ahead of print]NZ
- 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.
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- AZD6738 promotes the tumor suppressive effects of trifluridine in colorectal cancer cells. [Journal Article]Oncol Rep. 2023 Mar; 49(3)OR
- 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,…
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- Ubiquitin-binding site 1 of pathogenic ataxin-3 regulates its toxicity in Drosophila models of Spinocerebellar Ataxia Type 3. [Journal Article]Front Neurosci. 2022; 16:1112688.FN
- Spinocerebellar Ataxia Type 3 (SCA3) is a member of the family of polyglutamine (polyQ) diseases that are caused by anomalous CAG triplet repeat expansions in several genes. SCA3 results from abnormal polyQ expansion in the deubiquitinase (DUB), ataxin-3 (Atxn3). To understand the role of the different domains of mutant Atxn3 on its pathogenicity, with the hope that they can be explored for thera…
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- Complications following diagnostic and therapeutic sacroiliac joint region injections in horses: a study describing clinicians' experiences. [Journal Article]Equine Vet J. 2023 Feb 02 [Online ahead of print]EV
- CONCLUSIONS: Complications were experienced by more clinicians following diagnostic injections than after therapeutic or combined SI joint region injections, but the types and distribution of complications were similar. Results should be interpreted considering the previous reports of low prevalence of complications.
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- Signaling Network Response to Alpha-Particle Targeted Therapy with Actinium-225 Labeled Minigastrin Analogue 225Ac-PP-F11N Reveals Radiosensitizing Potential of HDAC Inhibitors. [Journal Article]J Nucl Med. 2023 Feb 02 [Online ahead of print]JN
- Alpha-particle emitters have recently been explored as valuable therapeutic radionuclides. Yet, toxicity to healthy organs and cancer radioresistance limit the efficacy of targeted alpha-particle therapy (TAT). Identification of the radiation-activated mechanisms, which drive cancer cell survival, provides opportunities to develop new points for therapeutic interference to improve efficacy and sa…
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- Early phase drug discovery of β-III-spectrin actin-binding modulators for treatment of spinocerebellar ataxia type 5. [Journal Article]J Biol Chem. 2023 Jan 30 [Online ahead of print]JB
- β-III-spectrin is a key cytoskeletal protein that localizes to the soma and dendrites of cerebellar Purkinje cells, and is required for dendritic arborization and signaling. A spinocerebellar ataxia type 5 (SCA5) L253P mutation in the cytoskeletal protein β-III-spectrin causes high-affinity actin binding. Previously we reported a cell-based fluorescence assay for identification of small molecule …
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- Safety and effectiveness of spinal dural defect repair in the management of superficial siderosis: A systematic review and patient-level analysis. [Review]J Clin Neurosci. 2023 Jan 31; 109:44-49.JC
- CONCLUSIONS: In patients with superficial siderosis and spinal dural defect, operative closure leads to improvement or stabilisation of symptoms in the vast majority (87%) of patients.
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- Treatment of Periodic Alternating Nystagmus as a Consequence of Ataxia-Telangiectasia. [Journal Article]J Neuroophthalmol. 2022 Oct 26 [Online ahead of print]JN
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- C1 Cervical Stenosis Causing Chronic Neck Pain and Ataxia: The Importance of Physical Examination and Radiographic Imaging. [Journal Article]Am J Phys Med Rehabil. 2022 Nov 17 [Online ahead of print]AJ
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- Iron Metabolism in Cardiovascular Disease: Physiology, Mechanisms, and Therapeutic Targets. [Review]Circ Res. 2023 Feb 03; 132(3):379-396.CircR
- 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…
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- Retinal Manifestations in Spinocerebellar Ataxia Type 3. [Journal Article]J Neuroophthalmol. 2022 Dec 08 [Online ahead of print]JN
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- Multifaceted nanoparticles: emerging mechanisms and therapies in neurodegenerative diseases. [Journal Article]Brain. 2023 Feb 02 [Online ahead of print]B
- 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…
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- BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening. [Journal Article]Brain. 2023 Feb 02 [Online ahead of print]B
- 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…
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- A Pilot Study to Develop Paraneoplastic Cerebellar Degeneration Mouse Model. [Journal Article]Cerebellum. 2023 Feb 02 [Online ahead of print]C
- 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…
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- Centripetal Nystagmus, Slow Saccades, Cerebellar Ataxia, and Parkinsonism in a Patient With Anti-GAD65-Associated Stiff Person Syndrome Spectrum Disorder. [Journal Article]J Neuroophthalmol. 2023 Jan 04 [Online ahead of print]JN
- A 68-year-old woman with positional dizziness and progressive imbalance presented for vestibular evaluation. Examination was notable for spontaneous downbeat nystagmus (DBN), horizontal and vertical gaze-evoked nystagmus (GEN) with centripetal and rebound nystagmus, and positional apogeotropic nystagmus. There was also mild-moderate slowing of saccades horizontally and vertically and poor fast ph…
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- Steroid-responsive encephalopathy in autoimmune thyroiditis (SREAT) as a differential diagnosis of Creutzfeldt-Jakob disease. [Journal Article]Neurol Neurochir Pol. 2023 Feb 02 [Online ahead of print]NN
- CONCLUSIONS: In a case of encephalopathy, the diagnosis of SREAT should also be considered in suspected cases of CJD so as to be able to start corticosteroid treatment quickly.
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- Brain-protective mechanisms of autophagy associated circRNAs: Kick starting self-cleaning mode in brain cells via circRNAs as a potential therapeutic approach for neurodegenerative diseases. [Review]
- Altered autophagy is a hallmark of neurodegeneration but how autophagy is regulated in the brain and dysfunctional autophagy leads to neuronal death has remained cryptic. Being a key cellular waste-recycling and housekeeping system, autophagy is implicated in a range of brain disorders and altering autophagy flux could be an effective therapeutic strategy and has the potential for clinical applic…
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- Targeted thorium-227 conjugates as treatment options in oncology. [Review]
- 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…
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- Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models. [Journal Article]
- 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.
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- Between Order and Chaos: Understanding the Mechanism and Pathology of RAN Translation. [Review]Biol Pharm Bull. 2023; 46(2):139-146.BP
- 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…
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- 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]ND
- 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…
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- The safety of perampanel in different disorders and doses: A meta-analysis. [Review]Seizure. 2023 Jan 20; 106:22-28.S
- 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.
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- 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.PN
- 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…
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- Otitis media with effusion in two Boston terrier dogs. [Case Reports]Vet Med Sci. 2023 Feb 01 [Online ahead of print]VM
- 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…
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- Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder. [Journal Article]J Genet. 2023; 102JG
- 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]
- 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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