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Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.
Biomedicines
December 2024
Diagnostic and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.
View Article and Find Full Text PDFFull moon mesencephalon sign: a transient cytotoxic lesion in a hemodialysis patient with newly diagnosed atrial fibrillation and severe stenosis of the right vertebral artery.
Neurol Sci
December 2024
Department of Neurology, Martin Gropius Hospital, Eberswalde, Germany.
Brain cytotoxic edema is a neuroradiological sign secondary to variegate diseases ranging from migraine to fulminant Listeria rhombencephalitis. The tempestive identification of its underlying cause is vital for an effective treatment as any delay may be fatal. However, the lack of distinctive imaging biomarkers and the paucity of reports pose a significant challenge in its diagnosis and frequently lead to a misdiagnosis particularly with the more common acute ischemic stroke.
View Article and Find Full Text PDFNeuroradiological Findings in Cerebral Amyloid Angiopathy with a Particular Consideration of the Boston Criteria 2.0: An Imaging Review.
Biomolecules
November 2024
Department of Neurology, University Medical Centre Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
In the elderly, cerebral amyloid angiopathy (CAA) is the most common cause for intracranial lobar hemorrhages. CAA is caused by the accumulation of amyloid-β fibrils in cortical and leptomeningeal vessels. In 2022, the Boston Criteria 2.
View Article and Find Full Text PDFBilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA--Related Ataxia.
Neurol Genet
December 2024
From the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.
Objectives: To report a novel imaging finding of bilateral dentate nuclei hyperintensities in a case of childhood-onset GAA--related ataxia (spinocerebellar ataxia 27B, SCA27B) and response to 4-aminopyridine (4-AP).
Methods: A 53-year-old woman with unsolved progressive cerebellar ataxia of childhood onset underwent clinical and imaging assessment and extensive genetic investigation.
Results: After excluding Friedreich ataxia, most common spinocerebellar ataxia-related expansions, and pathogenic variants in ataxia-related genes through exome sequencing, targeted long-range PCR and repeat-primed PCR analysis revealed a heterozygous pathogenic (GAA) expansion in Brain MRI showed bilateral dentate nuclei hyperintensities and peridentate white matter degeneration, a feature never reported before in SCA27B.
Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.
Pediatr Neurol
December 2024
Division of Neurology, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada. Electronic address:
Article Synopsis
- Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in the TSC1 and TSC2 genes, leading to benign tumors and associated neuropsychiatric disorders and epilepsy, with TSC2 mutations usually resulting in more severe symptoms.
- A study was conducted on a 13-year-old patient and three family members with a specific TSC2 variant (R905Q), revealing a range of symptoms from severe epilepsy to mild dermatological features, highlighting the variant's unusual milder effects in some cases.
- The findings suggest the need for genetic testing in individuals with severe epilepsy, as the TSC2 R905Q variant can present without typical neurological signs, and it also underscores the significance of
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