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Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.
EMBO Mol Med
November 2024
Sheffield Institute for Translational Neuroscience (SITraN), Division of Neuroscience, University of Sheffield, Sheffield, UK.
Article Synopsis
- Spastic paraplegia 47 (SPG47) results from mutations in the AP4B1 gene, leading to symptoms like progressive spastic paraplegia, developmental delays, intellectual disability, and epilepsy.
- Researchers used a gene therapy approach with a viral vector (AAV9/hAP4B1) to deliver the correct AP4B1 gene into a mouse model, successfully correcting multiple disease symptoms and restoring protein levels.
- Preclinical safety studies in non-human primates showed no major side effects, setting the stage for potential clinical trials to treat SPG47 patients.
The episodic ataxias.
Handb Clin Neurol
August 2024
Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address:
The primary episodic ataxias (EAs) are a group of autosomal-dominant disorders characterized by transient recurrent incoordination and truncal instability, often triggered by physical exertion or emotional stress and variably associated with progressive baseline ataxia. There are now nine designated subtypes EA1-9 (OMIM) and late onset cerebellar ataxia with episodic features as newly designated SCA27B, based largely on genetic loci. Mutations have been identified in multiple individuals and families in 4 of the 9 EA subtypes, mostly with the onset before adulthood.
View Article and Find Full Text PDFEpilepsy associated with Graves' disease: Report of two cases.
SAGE Open Med Case Rep
August 2024
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
We present two cases of epilepsy associated with Graves' disease. Case 1 is a 22-year-old woman. She had three epileptic seizures and was diagnosed with idiopathic generalized epilepsy.
View Article and Find Full Text PDFTemporal lobe malacia as a rare cause of gelastic seizure: A case report.
World J Clin Cases
July 2024
Department of Neurology, The Second Affiliated Hospital of Fujian Traditional Chinese Medical University, Fuzhou 350003, Fujian Province, China.
Background: Gelastic seizure (GS) is a rare type of epilepsy that most commonly appears in patients with hypothalamic hamartoma. It is rarely associated with other types of brain damage. This particular type of epilepsy is relatively rare and has few links to other brain lesions.
View Article and Find Full Text PDFNeurodevelopmental Follow-Up of Children Born to Mothers with Graves' Disease and Neonatal Hyperthyroidism.
Horm Res Paediatr
May 2024
Department of Endocrinology, The Royal Children's Hospital, Parkville, Victoria, Australia.
Introduction: Neonatal hyperthyroidism, often caused by maternal Graves' disease (GD), carries potential neurodevelopmental risks for children. Excessive thyroid hormones during fetal development are linked to neurological issues like ADHD and epilepsy. However, the impact of transient neonatal hyperthyroidism is not well understood.
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