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Cerebellum abnormalities in vascular mild cognitive impairment with depression symptom patients: A multimodal magnetic resonance imaging study.
Brain Res Bull
January 2025
Department of Acupuncture and Moxibustion, The Fourth Clinical Medical College of Guangzhou University of Chinese Medicine, Shenzhen, 518033, China. Electronic address:
Background: Subcortical vascular mild cognitive impairment (svMCI) frequently occurs alongside depressive symptoms, significantly affecting patients' quality of life. While cognitive decline and depressive symptoms are linked to cerebellar changes, the specific relationship between these changes and cognitive status in svMCI patients with depression remains unclear.
Objective: This study aimed to investigates the gray matter volume and functional alterations in the cerebellum of svMCI patients, with and without depressive symptoms, and their correlation with cognitive and depressive symptoms.
Scoliosis in adult Type 1 Chiari malformation with syringomyelia patients: from pathogenesis to treatment.
Am J Transl Res
December 2024
Department of Orthopaedics, Beilun District People's Hospital, Beilun Branch of The First Affiliated Hospital, Zhejiang University Ningbo, Zhejiang, China.
The pathogenesis of type I Chiari malformation (CIM) is complex and remains unclear. The theory of posterior cranial fossa incompatibility has gained widespread acceptance in recent years. In the patients with CIM combined with syringomyelia, scoliosis is a common occurrence, with severe cases often leading to complications that necessitate surgical intervention.
View Article and Find Full Text PDFDelayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27B.
Cerebellum
January 2025
Department of Neurology, Donders Institute for Brain, Cognition & Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Repeat expansions in the fibroblast growth factor 14 gene (FGF14), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here, we present a patient with residual symptom of gait ataxia after complicated meningioma surgery, who presented with progressive symptoms of oculomotor disturbances, speech difficulties, vertigo and worsening of gait imbalance, twelve years post-resection. Neuroimaging revealed a surgical resection cavity in the dorsolateral side of the left cerebellar hemisphere, accompanied by gliosis in left cerebellar hemisphere extending into the vermis, extensive non-specific supratentorial periventricular white matter abnormalities, and mild atrophy of the cerebellar vermis.
View Article and Find Full Text PDFSleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.
Ther Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFChoroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease.
Hum Mol Genet
January 2025
Section on Translational Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.
The choroid plexuses (CP) are highly vascularized structures that project into the ventricles of the vertebrate brain. The polarized epithelia of the CP produce cerebrospinal fluid by transporting water and ions into the ventricles from the blood and normally secrete a large number of proteins. We assessed the feasibility of selective CP transduction with recombinant adeno-associated virus (rAAV) gene therapy vectors for treatment of lysosomal storage disease (LSD), a broad category of neurometabolic illness associated with significant burdens to affected patients and their families.
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