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Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.
Mol Genet Metab
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:
Cerebrotendinous Xanthomatosis (CTX) is a treatable, inborn error of bile acids metabolism caused by pathogenic variants in CYP27A1. CTX is a multi-organ system disorder that progresses over decades. Clinical features include cerebellar dysfunction, pyramidal tract dysfunction, cognitive deficits and decline, peripheral neuropathy, chronic diarrhea, bilateral cataracts, and tendon xanthomas.
View Article and Find Full Text PDFA rare case of pontine tegmental cap dysplasia.
Radiol Case Rep
March 2025
Division of Neuroradiology, Joint Department of Medical Imaging, Toronto Western Hospital, Department of Medical Imaging, University of Toronto, Toronto, Ontario.
Pontine Tegmental Cap Dysplasia (PTCD) is a rare hindbrain malformation characterized by cranial nerve dysfunction, cerebellar abnormalities, and developmental delays of varying severity. This case report presents a 12-month-old female with significant developmental delays, hypotonia, and cranial nerve abnormalities. The findings underscore the critical role of radiology and neuroimaging in diagnosing and managing PTCD.
View Article and Find Full Text PDFNeuroprotective Effects of VEGF-B in a Murine Model of Aggressive Neuronal Loss with Childhood Onset.
Int J Mol Sci
January 2025
Laboratory of Neuronal Plasticity and Neurorepair, Institute of Neuroscience of Castile and Leon (INCyL), Universidad de Salamanca, 37007 Salamanca, Spain.
In recent decades, the scientific community has faced a major challenge in the search for new therapies that can slow down or alleviate the process of neuronal death that accompanies neurodegenerative diseases. This study aimed to identify an effective therapy using neurotrophic factors to delay the rapid and aggressive cerebellar degeneration experienced by the Purkinje Cell Degeneration (PCD) mouse, a model of childhood-onset neurodegeneration with cerebellar atrophy (CONDCA). Initially, we analyzed the changes in the expression of several neurotrophic factors related to the degenerative process itself, identifying changes in insulin-like growth factor 1 (IGF-1) and Vascular Endothelial Growth Factor B (VEGF-B) in the affected animals.
View Article and Find Full Text PDFCompound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDFAlterations of gray matter volume and functional connectivity in patients with cognitive impairment induced by occupational aluminum exposure: a case-control study.
Front Neurol
January 2025
School of Public Health, Shanxi Medical University, Taiyuan, China.
Background: Cognitive impairment (CI) is a condition in which an individual experiences noticeable impairment in thinking abilities. Long-term exposure to aluminum (Al) can cause CI. This study aimed to determine the relationship between CI and MRI-related changes in postroom workers exposed to Al.
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