Superior oblique palsy as the initial manifestation of anti-contactin-1 IgG4 autoimmune nodopathy: A case report
We report a case of anti-contactin-1 neuropathy initially manifesting as isolated superior oblique palsy, aiming to broaden the clinical spectrum of the disease. A 68-year-old male with well-controlled diabetes, hypertension, and hyperlipidemia developed acute binocular vertical diplopia, progressing over two months to include distal paresthesia, sensory ataxia, ageusia, and dysarthria. (Source: Journal of Neuroimmunology)
Source: Journal of Neuroimmunology - April 22, 2024 Category: Allergy & Immunology Authors: Young Gi Min, Woohee Ju, Jung-Joon Sung Tags: Short Communication Source Type: research
Neurocognitive impairment in patients with Ataxia Telangiectasia and their unaffected parents: Is it similar?
This study aimed to evaluate neurocognitive functioning in patients with AT and their unaffected parents. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 21, 2024 Category: Neurology Authors: Emel Uyar, Hacer Akturk, Sevil Usanmaz, Ayca Kiykim, Ali Evren Tufan, Hande Alibas, Omer Aydiner, Ayper Somer, Ahmet Ozen, Safa Baris, Elif Karakoc-Aydiner Tags: Research Paper Source Type: research
Genomic characterization and detection of potential therapeutic targets for peritoneal mesothelioma in current practice
Clin Exp Med. 2024 Apr 20;24(1):80. doi: 10.1007/s10238-024-01342-y.ABSTRACTPeritoneal mesothelioma (PeM) is an aggressive tumor with limited treatment options. The current study aimed to evaluate the value of next generation sequencing (NGS) of PeM samples in current practice. Foundation Medicine F1CDx NGS was performed on 20 tumor samples. This platform assesses 360 commonly somatically mutated genes in solid tumors and provides a genomic signature. Based on the detected mutations, potentially effective targeted therapies were identified. NGS was successful in 19 cases. Tumor mutational burden (TMB) was low in 10 cases, ...
Source: Clinical Lung Cancer - April 20, 2024 Category: Cancer & Oncology Authors: Job P van Kooten Michelle V Dietz Hendrikus Jan Dubbink Cornelis Verhoef Joachim G J V Aerts Eva V E Madsen Jan H von der Th üsen Source Type: research
Hook-effect in MAGLUMI immunoassay for serum anti-GAD antibodies in neurological disorders: When "wrong" matrix is the right choice
Clin Chim Acta. 2024 Apr 18;558:119679. doi: 10.1016/j.cca.2024.119679. Online ahead of print.ABSTRACTAntibodies against glutamic acid decarboxylase (anti-GAD) are a valuable diagnostic tool to detect severe autoimmune conditions as type 1 diabetes mellitus (T1DM) and anti-GAD related neurological disorders, having the latter more often anti-GAD concentrations in serum multiple times higher than in the former. Automated immunoassays, either with ELISA or chemiluminescent technology, are validated for diagnostic use in serum with analytical ranges suitable for T1DM diagnosis. In a patient presenting with a suspected autoimm...
Source: International Journal of Clinical Chemistry - April 20, 2024 Category: Chemistry Authors: G Musso M Zoccarato N Gallo M Plebani D Basso Source Type: research
The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
This study explored the relationship between performance on the CCAS-S and clinical metrics of disease severity in 57 adults with FRDA. In addition, this study explored the relationship between measures of intelligibility and naturalness of speech and scores on the CCAS-S in a subgroup of 39 individuals with FRDA. We demonstrated a significant relationship between clinical metrics and performance on the CCAS-S. In addition, we confirmed the items that returned the greatest rate of failure were based on Verbal Fluency Tasks, revealing a significant relationship between these items and measures of speech. Measures of speech ...
Source: Cerebellum - April 20, 2024 Category: Neuroscience Authors: Louise A Corben Eliza Blomfield Geneieve Tai Hiba Bilal Ian H Harding Nellie Georgiou-Karistianis Martin B Delatycki Adam P Vogel Source Type: research
The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
This study explored the relationship between performance on the CCAS-S and clinical metrics of disease severity in 57 adults with FRDA. In addition, this study explored the relationship between measures of intelligibility and naturalness of speech and scores on the CCAS-S in a subgroup of 39 individuals with FRDA. We demonstrated a significant relationship between clinical metrics and performance on the CCAS-S. In addition, we confirmed the items that returned the greatest rate of failure were based on Verbal Fluency Tasks, revealing a significant relationship between these items and measures of speech. Measures of speech ...
Source: Cerebellum - April 20, 2024 Category: Neuroscience Authors: Louise A Corben Eliza Blomfield Geneieve Tai Hiba Bilal Ian H Harding Nellie Georgiou-Karistianis Martin B Delatycki Adam P Vogel Source Type: research
The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
This study explored the relationship between performance on the CCAS-S and clinical metrics of disease severity in 57 adults with FRDA. In addition, this study explored the relationship between measures of intelligibility and naturalness of speech and scores on the CCAS-S in a subgroup of 39 individuals with FRDA. We demonstrated a significant relationship between clinical metrics and performance on the CCAS-S. In addition, we confirmed the items that returned the greatest rate of failure were based on Verbal Fluency Tasks, revealing a significant relationship between these items and measures of speech. Measures of speech ...
Source: Cerebellum - April 20, 2024 Category: Neuroscience Authors: Louise A Corben Eliza Blomfield Geneieve Tai Hiba Bilal Ian H Harding Nellie Georgiou-Karistianis Martin B Delatycki Adam P Vogel Source Type: research
The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
This study explored the relationship between performance on the CCAS-S and clinical metrics of disease severity in 57 adults with FRDA. In addition, this study explored the relationship between measures of intelligibility and naturalness of speech and scores on the CCAS-S in a subgroup of 39 individuals with FRDA. We demonstrated a significant relationship between clinical metrics and performance on the CCAS-S. In addition, we confirmed the items that returned the greatest rate of failure were based on Verbal Fluency Tasks, revealing a significant relationship between these items and measures of speech. Measures of speech ...
Source: Cerebellum - April 20, 2024 Category: Neuroscience Authors: Louise A Corben Eliza Blomfield Geneieve Tai Hiba Bilal Ian H Harding Nellie Georgiou-Karistianis Martin B Delatycki Adam P Vogel Source Type: research
The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
This study explored the relationship between performance on the CCAS-S and clinical metrics of disease severity in 57 adults with FRDA. In addition, this study explored the relationship between measures of intelligibility and naturalness of speech and scores on the CCAS-S in a subgroup of 39 individuals with FRDA. We demonstrated a significant relationship between clinical metrics and performance on the CCAS-S. In addition, we confirmed the items that returned the greatest rate of failure were based on Verbal Fluency Tasks, revealing a significant relationship between these items and measures of speech. Measures of speech ...
Source: The Cerebellum - April 20, 2024 Category: Neurology Source Type: research
Recent Advances in the Treatment Strategies of Friedreich's Ataxia: A Review of Potential Drug Candidates and their Underlying Mechanisms
CONCLUSION: While there has been significant progress in the development of treatment strategies for FRDA, further research is needed to optimize these approaches and identify the most effective and safe treatment options for patients. The integration of multiple therapeutic strategies may be necessary to achieve the best outcomes in FRDA management.PMID:38638052 | DOI:10.2174/0113816128288707240404051856 (Source: Current Pharmaceutical Design)
Source: Current Pharmaceutical Design - April 19, 2024 Category: Drugs & Pharmacology Authors: Aman Kumar Saini Neha Anil Ardra N Vijay Bharti Mangla Shamama Javed Pankaj Kumar Waquar Ahsan Source Type: research
Evidence for persistent UV-induced DNA damage and altered DNA damage response in xeroderma pigmentosa patient corneas
Exp Eye Res. 2024 Apr 17:109901. doi: 10.1016/j.exer.2024.109901. Online ahead of print.ABSTRACTXeroderma pigmentosum (XP) is a rare genetic disorder characterized by injury to the ocular surface due to exposure to ultraviolet (UV) radiation. UV-induced damage in the cells leads to the formation of cyclobutane pyrimidine dimers (CPDs) and 6-4 pyrimidine-pyrimidone photoproducts that are repaired by the NER (Nucleotide Excision Repair) pathway. Mutations in the genes coding for NER proteins, as reported in XP patients, would lead to sub-optimal damage repair resulting in clinical signs varying from photo-keratitis to cancer...
Source: Experimental Eye Research - April 19, 2024 Category: Opthalmology Authors: Jacquelyn Akepogu Saumya Jakati Sunita Chaurasia Charanya Ramachandran Source Type: research
Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review
Conclusion
RNF216-related disorder is an inherited neuroendocrine disease characterised by cerebellar ataxia, chorea, cognitive impairment and hypogonadotropic hypogonadism. Most causative variants in patients with RNF216-related disorder influence the RBR domain or C-terminal extension of RNF216. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Wu, C., Zhang, Z. Tags: Neurogenetics Source Type: research
Sensors, Vol. 24, Pages 2586: Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation
O’Keefe
FXTAS is a neurodegenerative disorder occurring in some Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene premutation carriers (PMCs) and is characterized by cerebellar ataxia, tremor, and cognitive deficits that negatively impact balance and gait and increase fall risk. Dual-tasking (DT) cognitive-motor paradigms and challenging balance conditions may have the capacity to reveal markers of FXTAS onset. Our objectives were to determine the impact of dual-tasking and sensory and stance manipulation on balance in FXTAS and potentially detect subtle postural sway deficits in FMR1 PMCs who are asymptomatic for...
Source: Sensors - April 18, 2024 Category: Biotechnology Authors: Emily C. Timm Nicollette L. Purcell Bichun Ouyang Elizabeth Berry-Kravis Deborah A. Hall Joan Ann O ’Keefe Tags: Article Source Type: research
Genes, Vol. 15, Pages 508: Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms
Conclusion: Our work confirms clinical variability also in the ERCC6/CSB type, where manifestations may range from severe involvement with prenatal or neonatal onset to normal psychomotor development followed by progressive ataxia. We propose, for the first time in CS, sNFL as a useful peripheral biomarker, with increased levels compared to currently available reference values and with the potential ability to reflect disease severity. (Source: Genes)
Source: Genes - April 18, 2024 Category: Genetics & Stem Cells Authors: Jacopo Sartorelli Lorena Travaglini Marina Macchiaiolo Giacomo Garone Michaela Veronika Gonfiantini Davide Vecchio Lorenzo Sinibaldi Flaminia Frascarelli Viola Ceccatelli Sara Petrillo Fiorella Piemonte Gabriele Piccolo Antonio Novelli Daniela Longo Stefa Tags: Article Source Type: research
Gastrointestinal disorders in hyperkinetic movement disorders and ataxia
Nervenarzt. 2024 Apr 17. doi: 10.1007/s00115-024-01655-z. Online ahead of print.ABSTRACTDisorders of the gastrointestinal tract in patients suffering from hypokinetic movement disorders, and in particular Parkinson's disease, have increasingly been the subject of more intensive neuromedical research. So far, few data are available for patients with hyperkinetic movement disorders and ataxias. This review article summarizes the currently available and relevant publications on this topic. The particular focus is on essential tremor, restless legs syndrome, Huntington's disease and the group of hereditary ataxias. Further int...
Source: Der Nervenarzt - April 17, 2024 Category: Neurology Authors: Inga Claus Tobias Warnecke Source Type: research
