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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 PDFArtificial intelligence for brain neuroanatomical segmentation in magnetic resonance imaging: A literature review.
J Clin Neurosci
January 2025
Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, NSW, Australia; Computational NeuroSurgery (CNS) Lab, Macquarie University, NSW, Australia.
Purpose: This literature review aims to synthesise current research on the application of artificial intelligence (AI) for the segmentation of brain neuroanatomical structures in magnetic resonance imaging (MRI).
Methods: A literature search was conducted using the databases Embase, Medline, Scopus, and Web of Science, and captured articles were assessed for inclusion in the review. Data extraction was performed for the summary of the AI model used, and key findings of each article, advantages and disadvantages were identified.
Adaptive protein synthesis in genetic models of copper deficiency and childhood neurodegeneration.
Mol Biol Cell
January 2025
Department of Cell Biology, Emory University, 615 Michael St, Atlanta, GA, USA, 30322.
Rare inherited diseases caused by mutations in the copper transporters (CTR1) or induce copper deficiency in the brain, causing seizures and neurodegeneration in infancy through poorly understood mechanisms. Here, we used multiple model systems to characterize the molecular mechanisms by which neuronal cells respond to copper deficiency. Targeted deletion of CTR1 in neuroblastoma cells produced copper deficiency that produced a metabolic shift favoring glycolysis over oxidative phosphorylation.
View Article and Find Full Text PDFImaging characteristics of brain microstructure and cerebral perfusion in Crohn's disease patients with anxiety: A prospective comparative study.
World J Gastroenterol
January 2025
Department of Radiology, The Affiliated Changzhou Second People's Hospital of Nanjing Medical University, Changzhou Medical Center, Changzhou 213000, Jiangsu Province, China.
Background: Anxiety is a common comorbidity in patients with Crohn's disease (CD). Data on the imaging characteristics of brain microstructure and cerebral perfusion in CD with anxiety are limited.
Aim: To compare the imaging characteristics of brain microstructure and cerebral perfusion among CD patients with or without anxiety and healthy individuals.
Longitudinal Changes in Patient- and Clinical-Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the IDEA Study.
Mov Disord Clin Pract
January 2025
Department of Neurology, The University of Chicago, Chicago, Illinois, USA.
Background: Clinical outcomes assessments (COAs) in spinocerebellar ataxia (SCA) need to be standardized, ataxia-specific, sensitive to change, clinically relevant, and meaningful to patients.
Objectives: To evaluate the longitudinal 1- and 2-year performances of different patient reported outcomes, including the Patient Reported Outcome Measure of Ataxia (PROM-Ataxia), and clinician reported outcomes, including FARS and SARA, in those with early manifest symptoms of SCA 1, 2, 3, and 6.
Methods: We studied 53 patients with early stage SCA1-3 and SCA6 from The Instrumented Data Exchange for Ataxia Study and 24 age-matched healthy controls.
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