A surgical series of 59 patients with cerebellar or spinal cord hemangioblastomas or von Hippel-Lindau's (VHL) syndrome is analyzed. The presence of the tumor is easily detected by Computerized Tomography (CT) and Nuclear Magnetic Resonance (NMR), but angiography is still necessary for a correct surgical planning. The value of a sharp distinction among patients with single hemangioblastomas and the ones with Lindau's disease and VHL syndrome is stressed. In fact patients with single cerebellar or spinal hemangioblastomas have a good prognosis, while patients with disseminated hemangioblastomas have a rather poor outlook. Neuropathological studies with immunohistochemical techniques have been performed to identify the nature of the stromal cells of the hemangioblastomas: their origin from glial, endothelial and monociticphagocitic elements seems excluded.
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World Neurosurg
January 2025
Department of Neurosurgery, Xuanwu Hospital, Capital Medical University; Spine Center, China International Neuroscience Institute (CHINA-INI); Research Center of Spine and Spinal Cord, Beijing Institute of Brain Disorders, Capital Medical University; Lab of Spinal Cord Injury and Functional Reconstruction, China International Neuroscience Institute (CHINA-INI); National Center for Neurological Disorders, Beijing, CHINA. Electronic address:
Background: Revision surgery for patients with persistent, recurrent, or progressive syringomyelia following foramen magnum decompression (FMD) for Chiari malformation I-syringomyelia (CM-SM) is not uncommon and presents both strategic and technical challenges.
Methods: We conducted a retrospective study including all patients who underwent revision Cerebellar Tonsillectomy (CTL) for CM-SM between 2003 and 2023. Additionally, we performed uni- and multivariate analyses to identify possible factors contributing to failed CTL outcomes.
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.
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 PDFHeliyon
January 2025
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a disorder in which ceramide accumulation in lysosomes due to a decrease in acid ceramidase activity. This case suggests attention to this rare class of deceases involving both the central and peripheral nervous systems.
View Article and Find Full Text PDFFront Neurol
January 2025
Oregon Hearing Research Center, Oregon Health & Science University, Portland, OR, United States.
Introduction: The brainstem vestibular nuclei neurons receive synaptic inputs from inner ear acceleration-sensing hair cells, cerebellar output neurons, and ascending signals from spinal proprioceptive-related neurons. The lateral (LVST) and medial (MVST) vestibulospinal (VS) tracts convey their coded signals to the spinal circuits to rapidly counter externally imposed perturbations to facilitate stability and provide a framework for self-generated head movements.
Methods: The present study describes the morphological characteristics of intraaxonally recorded and labeled VS neurons monosynaptically connected to the 8th nerve.
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