Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MCD.0000000000000435 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Co-Aggregation of TDP-43 with Other Pathogenic Proteins and Their Co-Pathologies in Neurodegenerative Diseases.
Int J Mol Sci
November 2024
Key Laboratory of RNA Innovation, Science and Engineering, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai 200031, China.
Pathological aggregation of a specific protein into insoluble aggregates is a common hallmark of various neurodegenerative diseases (NDDs). In the earlier literature, each NDD is characterized by the aggregation of one or two pathogenic proteins, which can serve as disease-specific biomarkers. The aggregation of these specific proteins is thought to be a major cause of or deleterious result in most NDDs.
View Article and Find Full Text PDFCo-existence of Myelin Oligodendrocyte Glycoprotien Antibody-associated Disease (MOGAD) and Spinocerebellar Ataxia type 1 (SCA1): A case report.
Neurol Sci
August 2024
Department of Neurosciences, Mental Health and Sensory Organs, Centre for Experimental Neurological Therapies (CENTERS), Sapienza University of Rome, Rome, Italy.
A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis-Coincidental or Associated?
Cerebellum
June 2024
Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Spinocerebellar ataxia type 2 (SCA2) is a dominantly inherited ataxia primarily characterised by progressive cerebellar syndrome, which is developed due to the expansion of the CAG trinucleotide repeat within the first exon of the ATXN2 gene. We report a rare case of a 41-year-old woman with coexistent genetically verified SCA2 and primary progressive multiple sclerosis (MS). Considering our case and a few others reported in the literature, as well as a possible genetic association between ATXN2 and MS susceptibility, we suggest that the coexistence of SCA and MS may not be coincidental, especially in patients with a progressive MS course.
View Article and Find Full Text PDFA boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D.
Brain Dev
November 2023
Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address:
Introduction: Kabuki syndrome (KS) and spinocerebellar ataxia (SCA) are both rare conditions with neurodevelopmental abnormalities. Approaching a patient with complex phenotypes and differentiating the role of mutations may be beneficial but challenging in predicting the disease prognosis.
Case Presentation: A boy presented with progressive ataxia, developmental regression, and myoclonus since 4 years of age.
Pearls & Oy-sters: ATX-FGF14 Mimicking Autoimmune Pathology.
Neurology
October 2023
From the Department of Neurology (Y.H., M.A.W., J.E.A.W., S.M.P., E.S., S.L.C.), Department of Ophthalmology and Visual Sciences (J.E.A.W.), Department of Radiology (T.R., K.L.S.), University of Utah; and George E. Wahlen Veterans Affairs Medical Center (S.L.C.), Salt Lake City, UT.
ATX-FGF14 (formerly spinocerebellar ataxia 27, OMIM #193003) is an autosomal dominant condition caused by a pathogenic variant in the fibroblast growth factor 14 (, OMIM #601515) gene located on chromosome 13. The phenotypic expression can vary in patients with the same genotype, often delaying diagnosis, especially in probands without known affected relatives and/or with limited available family history. We describe 2 cases of ATX-FGF14 in 1 family with a focus on the importance of differentiating episodic manifestations of neurogenetic conditions from inflammatory/autoimmune neurologic conditions.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!