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Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE
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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
PubMed

Insights

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.
Keywords:
ElectroencephalographyEpilepsyLysosomal storage diseasesMucopolysaccharidosesSeizures

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