We report a young patient harboring a RHOBTB2 likely pathogenic variant with recurrent episodes of headache, dysautonomia and hemiplegia consistent with hemiplegic migraine. Such episodes were responsive to flunarizine prophylaxis. Ictal MRI showed contralateral hemispheric hypoperfusion. This report expands RHOBTB2 spectrum to include hemiplegic migraine and provides insight into the pathophysiology of hemiplegic attacks in this condition.
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http://dx.doi.org/10.1016/j.parkreldis.2025.107340 | DOI Listing |
Cureus
January 2025
Internal Medicine, San Joaquin General Hospital, French Camp, USA.
This article aims to present and discuss a case of a patient presented with stroke-like symptoms that fluctuated with rapid initial improvement followed by recurrence and slow resolution over a period of six days. A 57-year-old male with a past medical history of chronic myeloid leukemia (CML), unspecified seizure disorder, hyperlipidemia (HLD), hypertension (HTN), peptic ulcer disease (PUD), and type II diabetes mellitus (T2DM) presented with right-sided focal neurological deficits (FNDs). The patient initially called the ambulance for intractable abdominal pain with a five-day history of melena and one episode of hematemesis followed by a ground-level fall, during which he was witnessed by family shaking and unresponsive.
View Article and Find Full Text PDFParkinsonism Relat Disord
February 2025
Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE, Rome, Italy; University Hospitals KU Leuven, Belgium.
We report a young patient harboring a RHOBTB2 likely pathogenic variant with recurrent episodes of headache, dysautonomia and hemiplegia consistent with hemiplegic migraine. Such episodes were responsive to flunarizine prophylaxis. Ictal MRI showed contralateral hemispheric hypoperfusion.
View Article and Find Full Text PDFInt J Mol Sci
February 2025
Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka 577-8502, Japan.
Familial hemiplegic migraine (FHM) is characterized by repeated episodes of reversible localized neurological deficits, in addition to headache. The aura of HM includes visual, sensory, motor, and verbal symptoms. Hemiplegic migraine (HM) is classified into non-familial sporadic HM (SHM) and familial HM (FHM).
View Article and Find Full Text PDFCells
February 2025
Biology Department, School of Science, Indiana University Indianapolis, Indianapolis, IN 46202, USA.
Fibroblast growth factor homologous factors (FHFs) regulate the activity of several different voltage-gated sodium channels (Nas). However, more work is needed to determine how specific FHF isoforms and variants affect the properties of different Na isoforms. In addition, it is not known if FHFs can differentially modulate the properties of Na variants associated with disease.
View Article and Find Full Text PDFCephalalgia
February 2025
Department of Molecular Physiology and Biophysics, University of Iowa, Iowa City, IA, USA.
Background: The therapeutic use of cannabidiol (CBD) and Δ9-tetrahydrocannabinol (THC) to treat migraine has been understudied. Using three mouse models, we examined the impact of CBD and THC on migraine-relevant behaviors triggered by: 1) calcitonin gene-related peptide (CGRP), 2) sodium nitroprusside (SNP), and 3) cortical spreading depolarization (CSD).
Methods: Both male and female CD1 mice were treated with CBD (100 mg/kg) or THC (1 mg/kg) alone or in combinations of CBD (1, 30 or 100 mg/kg) and THC (1 mg/kg) prior to injection of CGRP or SNP.
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