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A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants.
BMC Neurol
January 2025
Faculty of Medicine, Department of Neurology, Al-Quds University, Jerusalem, Palestine.
Background: Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. 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. Many reports involve minors.
View Article and Find Full Text PDFEEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFEpistaxis and Intradural-Extramedullary Haemorrhage in a Dog With Steroid Responsive Meningitis-Arteritis.
Vet Med Sci
January 2025
Veterinary Specialists Scotland, Part of Linnaeus Veterinary Ltd., Livingston, UK.
A 2-year-old female entire Golden Retriever with a history of being subdued was seen. Her physical and neurological examinations were initially unremarkable, but she acutely progressed to non-ambulatory paraparesis, with absent cervical or thoracolumbar hyperaesthesia. Magnetic resonance imaging of the vertebral column was performed, showing a well-defined, intradural-extramedullary mass at the level of the caudal aspect of L2 causing right-sided ventrolateral marked cord compression.
View Article and Find Full Text PDFWhite matter functional and structural alterations of spinocerebellar ataxia type 3: A longitudinal MRI study.
Neuroscience
December 2024
Department of Radiology, Xiangya Hospital of Central South University, Changsha, 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital of Central South University, Changsha, 410008, China; National Engineering Research Center of Personalized Diagnostic and Therapeutic Technology, Xiangya Hospital of Central South University, Changsha, 410008, China; Hunan Engineering Research Center for Intelligent Medical Imaging, Changsha, 410078, Hunan, China; FuRong Laboratory, Changsha, 410078, Hunan, China. Electronic address:
Widespread white matter (WM) microstructural abnormalities have been reported in patients with spinocerebellar ataxia type 3 (SCA3) using diffusion tensor imaging (DTI), whereas the ability of DTI to detect WM degeneration over short-term period remains insufficiently explored. Additionally, WM dysfunction remains entirely unknown in this disease. This study aims to investigate WM structural and functional alterations in SCA3, and provide promising progression biomarkers for short-term clinical trials.
View Article and Find Full Text PDFLafora Disease Presenting with Ataxia and DM1: A Case Study.
Acta Neurol Taiwan
December 2024
Zanjan University of Medical Sciences, Zanjan, Iran.
Here we presented a rare case of Lafora disease with neuropathy, ataxia and progression of symptoms into type one DM, GTCS and myoclonus during years. We believe that it is important to keep the diagnosis of Lafora disease in mind in every child presenting with myoclonus especially when mental and cerebellar deficits develop as well. Keywords: Drug-resistant seizure, Ataxia, Myoclonic jerky movements, Lafora.
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