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Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study.
Orphanet J Rare Dis
January 2025
Department of Neurology of First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.
Background: Spinocerebellar ataxia type 3 (SCA3) is a hereditary disease caused by abnormally expanded CAG repeats in the ATXN3 gene. The study aimed to identify potential biomarkers for assessing therapeutic efficacy by investigating the associations between expanded CAG repeat size, brain and spinal cord volume loss, and motor functions in patients with SCA3.
Methods: In this prospective, cross-observational study, we analyzed 3D T1-weighted MRIs from 92 patients with SCA3 and 42 healthy controls using voxel-based morphometry and region of interest approaches.
Azygos Vein Stenosis in Frontotemporal Dementia Sagging Brain Syndrome.
AJNR Am J Neuroradiol
January 2025
Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology (J.D.S., Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
Background And Purpose: Symptoms indistinguishable from behavioral-variant frontotemporal dementia (bvFTD) can develop in patients with spontaneous intracranial hypotension associated with severe brain sagging. An underlying spinal CSF leak can be identified in only a minority of these patients and the success rate of nondirected treatments, such as epidural blood patching and dural reduction surgery, is low. The disability associated with bvFTD sagging brain syndrome is high and, because of the importance of the venous system in the pathophysiology of CSF leaks in general, we have investigated the systemic venous circulation in those patients with recalcitrant symptoms.
View Article and Find Full Text PDFTeaching Video NeuroImage: Minipolymyoclonus: A Clinical Clue to Spinal Muscular Atrophy.
Neurology
February 2025
Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Brazil.
Therapeutic Intervention for Trunk Control Impairments in Central Nervous System Disorders: A Comprehensive Review of Methods and Efficacy.
Prog Rehabil Med
January 2025
Department of Rehabilitation Medicine, Osaka Medical and Pharmaceutical University, Osaka, Japan.
Objectives: Trunk control involves multiple brain regions related to motor control systems. Therefore, patients with central nervous system (CNS) disorders frequently exhibit impaired trunk control, decreasing their activities of daily living (ADL). Although some therapeutic interventions for trunk impairments have been effective, their general effects on CNS disorders remain unclear.
View Article and Find Full Text PDFClinical presentation, diagnostic investigations and follow-up of a Bengal tiger ( affected by ambulatory tetraparesis.
Braz J Vet Med
January 2025
Veterinarian, Neurology Department, AniCura Istituto Veterinario di Novara, Granozzo con Monticello, Novara, Italy.
An 11-year-old male Bengal tiger () was referred for a 2-week history of ambulatory tetraparesis, generalized ataxia, and hypermetric gait, associated with mild right head tilt and spontaneous proprioceptive deficit on the right forelimb. Neuroanatomical localization was C1-C5 myelopathy; cerebellum-vestibular system involvement was also considered. Hematology and serum biochemistry were unremarkable, although serum vitamin A (0.
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