We herein describe a case of a 38-year-old man with familial hemiplegic migraine with a T666M mutation in the electrical potential-dependent calcium ion channel (CACNA1A) gene. His migraine was accompanied by hemiparesis and impaired consciousness. Brain magnetic resonance imaging revealed abnormalities in the right cortical hemisphere. Single-photon emission computed tomography demonstrated a decrease in iomazenil uptake and an increase in (99m)Tc-ethyl cysteinate dimer uptake at the ipsilateral site. Positron emission tomography showed a decrease in 18F-fluorodeoxyglucose uptake in the same area, which later showed atrophic changes. The patient's brain atrophy ceased after treatment with sodium valproate. This case suggests that the progression of brain atrophy can be prevented with adequate prophylaxis.
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http://dx.doi.org/10.2169/internalmedicine.53.0295 | DOI Listing |
Cephalalgia
January 2025
Department of Biomedicine, Health Aarhus University, Aarhus, Denmark.
Background: Familial hemiplegic migraine (FHM) types 1-3 are associated with protein-altering genetic variants in , and , respectively. These genes have also been linked to epilepsy. Previous studies primarily focused on phenotypes, examining genetic variants in individuals with characteristic FHM symptoms.
View Article and Find Full Text PDFBMJ 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 PDFBrain 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 PDFOTJR (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.
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