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Episodic headaches and cognitive decline: uncovering neuronal intranuclear inclusion disease in a young patient.
BMJ Case Rep
January 2025
Department of Neurology, Barwon Health, Geelong, Victoria, Australia.
A male in his 20s presented with episodic headache and subsequently developed episodic unilateral weakness, dysphasia and encephalopathy. These paroxysmal episodes persisted over time with the development of background cognitive impairment and neuropsychiatric symptoms. MRI surveillance demonstrated progressive T2 hyperintensity with focal cortical oedema correlating to symptoms observed during clinical episodes.
View Article and Find Full Text PDFClinical characterization of a novel p.Gly615Glu mutation in nine family members with familial hemiplegic migraine.
Brain Commun
December 2024
Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Familial hemiplegic migraine type 2 results from pathogenic variants in the gene, which encodes for a catalytic subunit of sodium/potassium ATPase. This extremely rare autosomal dominant disorder manifests with a spectrum of symptoms, most commonly pure hemiplegic phenotype, epilepsy, and/or intellectual disability. In this study, we detail the clinical features and genetic analysis of nine patients from a large family spanning four generations, with all carrying a previously unreported likely pathogenic variant, p.
View Article and Find Full Text PDFPediatric Constraint-Induced Movement Therapy: Current Practices and Implementation Barriers.
OTJR (Thorofare N J)
December 2024
Washington University School of Medicine, St. Louis, MO, USA.
Hemiplegic Cerebral Palsy (CP) is the most common pediatric motor disability, characterized by unilateral motor weakness. Pediatric Constraint-Induced Movement Therapy (pCIMT) improves affected extremity function but faces variable clinical integration. This study assessed U.
View Article and Find Full Text PDFTargeting Na,K-ATPase-Src signaling to normalize cerebral blood flow in a murine model of familial hemiplegic migraine.
J Cereb Blood Flow Metab
December 2024
Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Article Synopsis
- - Familial hemiplegic migraine type 2 (FHM2) is associated with mutations in the Na,K-ATPase α isoform, like G301R, which causes issues in blood flow regulation in the brain by affecting Src kinase signaling.
- - In a study with mice carrying the G301R mutation, increased cerebral artery tone and exaggerated responses to stimulation were observed; however, treatment with pNaKtide normalized these issues by targeting the problematic signaling pathway.
- - The treatment with pNaKtide improved cerebral blood flow and neurovascular coupling in the mutant mice, while only slightly affecting blood pressure, indicating it as a promising therapeutic approach for FHM2.
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