Ashton C report a retrospective multi-centre cohort of 34 patients from Canada, France, Austria and Australia with spinocerebellar ataxia 27B, describing the common feature of episodic ataxia and other episodic features, as well as the inefficacy of acetazolamide in these patients.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495284 | PMC |
http://dx.doi.org/10.1093/braincomms/fcad239 | DOI Listing |
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 PDFAlzheimers Dement
December 2024
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Background: Biorepositories play an integral role in the advancement of our understanding of neurodegenerative diseases and improving human health outcomes. Research efforts are accelerated when access to high-quality clinical specimens is made available from a large, diverse participant group. Indiana University is home to three important neurodegenerative disease-focused biorepositories including the NIA-funded National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), the NINDS-funded Biospecimen Exchange for Neurological Disorders (BioSEND), and the Michael J.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
National Institute of Neurological Disorders and Stroke, Rockville, MD, USA.
Background: Access to biospecimens is an oft cited challenge to the progress in research on neurological disorders. Access to clinical biospecimens for development of validated biomarkers and improved cellular models of Alzheimer's Disease and Alzheimer's Disease Related Dementias (AD/ADRD) are cited as priorities across several NIH AD/ADRD Research Implementation Milestones (https://www.nia.
View Article and Find Full Text PDFParkinsonism 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.
View Article and Find Full Text PDFMov Disord
January 2025
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!