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Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE
Published on: August 16, 2024
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Epilepsy in mucopolysaccharidosis disorders
Maurizio Scarpa1, Charles Marques Lourenço2, Hernán Amartino3
1Department of Paediatric and Adolescent Medicine, Helios Dr. Horst Schmidt Kliniken, Center for Rare Diseases, Wiesbaden, Germany; Department of Women's and Children's Health, University of Padova, Padova, Italy.
Molecular Genetics and Metabolism
|November 25, 2017
Summary
Mucopolysaccharidoses (MPS) are genetic disorders causing GAG accumulation, leading to multi-organ dysfunction and neurological issues like seizures. This review details current knowledge on MPS-related epilepsy, highlighting limited existing literature.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Mucopolysaccharidoses (MPS) result from lysosomal enzyme deficiencies.
- Deficiencies lead to glycosaminoglycan (GAG) accumulation, causing multi-organ dysfunction.
- Neurological symptoms, including epileptic seizures, are common in MPS patients.
Observation:
- GAG accumulation in the brain is hypothesized to cause neuronal alterations and inflammation.
- Literature on the prevalence, pathophysiology, and management of MPS-related epilepsy is scarce.
- This review synthesizes current knowledge and presents case examples.
Findings:
- Epileptic seizures in MPS are linked to GAG buildup in brain tissue.
- Altered neuronal connectivity, signaling, and inflammation contribute to seizure development.
- Expert discussion focused on MPS and neurological manifestations.
Implications:
- Increased understanding of MPS-associated epilepsy is crucial for patient care.
- Further research is needed to establish effective diagnostic and therapeutic strategies.
- This review serves as a foundational resource for clinicians and researchers in the field.
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