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[A case of L-2-hydroxyglutaric aciduria diagnosed with involuntary movements, in which improvement in motor symptoms was achieved following treatment].
Rinsho Shinkeigaku
January 2025
Department of Neurology, Gifu Prefectural General Medical Center.
A 49-year-old female presented with the primary complaint of hand tremors. Neurological examination on admission revealed signs of cognitive impairment, bulbar palsy, dystonia, cerebellar ataxia, and pyramidal tract disease. T-weighted brain MRI revealed hyperintense signals in the subcortical white matter, basal ganglia, and cerebellar dentate nucleus, with no atrophy of the brainstem or corpus callosum.
View Article and Find Full Text PDFSequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Am J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
View Article and Find Full Text PDFRiga-Fede disease (RFD) is a rare, benign condition marked by traumatic ulceration on the tongue's ventral side in infants. It arises from friction between the tongue and lower incisors during sucking, potentially worsening into a keratinized lesion if the cause is not addressed. This report details the case of a 1-year-6-month-old male with hydrocephalus, cleft palate, corpus callosum dysgenesis, neuropsychomotor developmental delay, and tracheostomy and gastrostomy needs.
View Article and Find Full Text PDFExtension of T Hyperintense Areas in Patients With a Glioma: A Comparison Between High-Quality 7 T MRI and Clinical Scans.
NMR Biomed
March 2025
Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands.
Gliomas are highly heterogeneous and often include a nonenhancing component that is hyperintense on T weighted MRI. This can often not be distinguished from secondary gliosis and surrounding edema. We hypothesized that the extent of these T hyperintense areas can more accurately be determined on high-quality 7 T MRI scans.
View Article and Find Full Text PDFNatural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients.
Mol Genet Metab
January 2025
Image Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA. Electronic address:
Objective: GM1 gangliosidosis is a rare lysosomal storage disorder characterized by the accumulation of GM1 gangliosides in neuronal cells, resulting in severe neurodegeneration. Currently, limited data exists on the brain volumetric changes associated with this disease. This study focuses on the late-infantile and juvenile subtypes of type II GM1 gangliosidosis, aiming to quantify brain volumetric characteristics to track disease progression.
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