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Trazodone, dibenzoylmethane and tauroursodeoxycholic acid do not prevent motor dysfunction and neurodegeneration in Marinesco-Sjögren syndrome mice.
PLoS One
January 2025
Department of Neuroscience, Laboratory of Prion Neurobiology, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.
There is no cure for Marinesco-Sjögren syndrome (MSS), a genetic multisystem disease linked to loss-of-function mutations in the SIL1 gene, encoding a BiP co-chaperone. Previously, we showed that the PERK kinase inhibitor GSK2606414 delays cerebellar Purkinje cell (PC) degeneration and the onset of ataxia in the woozy mouse model of MSS. However, GSK2606414 is toxic to the pancreas and does not completely rescue the woozy phenotype.
View Article and Find Full Text PDFStep Width Haptic Feedback for Gait Stability in Spinocerebellar Ataxia: Preliminary Results.
Mov Disord
January 2025
Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Background: Wider step width and lower step-to-step variability are linked to improved gait stability and reduced fall risk. It is unclear if patients with spinocerebellar ataxia (SCA) can learn to adjust these aspects of gait to reduce fall risk.
Objectives: The aims were to examine the possibility of using wearable step width haptic biofeedback to enhance gait stability and reduce fall risk in individuals with SCA.
The GAA repeat expansion is a major cause of ataxia in the Cypriot population.
Brain Commun
January 2025
Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
Dominantly inherited intronic GAA repeat expansions in the fibroblast growth factor 14 gene have recently been shown to cause spinocerebellar ataxia 27B. Currently, the pathogenic threshold of (GAA) repeat units is considered highly penetrant, while (GAA) is likely pathogenic with reduced penetrance. This study investigated the frequency of the GAA repeat expansion and the phenotypic profile in a Cypriot cohort with unresolved late-onset cerebellar ataxia.
View Article and Find Full Text PDFCerebral cortical functional hyperconnectivity in a mouse model of spinocerebellar ataxia type 8 (SCA8).
Neurobiol Dis
January 2025
Department of Neuroscience, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address:
Spinocerebellar Ataxia Type 8 (SCA8) is an inherited neurodegenerative disease caused by a bidirectionally expressed CTG●CAG expansion mutation in the ATXN-8 and ATXN8-OS genes. While SCA8 patients have motor abnormalities, patients may also exhibit psychiatric symptoms and cognitive dysfunction. It is difficult to elucidate how the disease alters brain function in areas with little or no degeneration producing both motor and cognitive symptoms.
View Article and Find Full Text PDFSegmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?
Parkinsonism Relat Disord
January 2025
Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, 00165, Italy.
Segmental Brainstem Myoclonus (SBM) is a rare movement disorder characterized by rhythmic contractions of muscles innervated by brainstem segments. We report a 20-year-old patient with ADCK3-related spinocerebellar ataxia type 9 (SCAR9) presenting with sudden-onset myoclonic movements of the throat, tongue, and soft palate. Brain MRI showed stable findings, including dentate nucleus hyperintensities.
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