Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism

Carlotta Spagnoli1, Carlo Fusco1, Francesco Pisani2

  • 1Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.

Insights

Genetic early-onset Parkinsonism often presents with epilepsy and movement disorders. Identifying specific genetic conditions is crucial for early intervention and long-term management of neurological symptoms.

Area of Science:

  • Neurology
  • Genetics
  • Epileptology

Background:

  • Genetic early-onset Parkinsonism frequently co-occurs with hyperkinetic movement disorders and neurological or systemic findings, including epilepsy (10-15% of cases).
  • Existing classifications for childhood Parkinsonism and epilepsies provide a framework for understanding these complex presentations.

Purpose of the Study:

  • To review and identify distinct presentations of genetic early-onset Parkinsonism associated with epilepsy.
  • To highlight the need for long-term follow-up in at-risk individuals.

Main Methods:

  • Literature review of PubMed using classifications from Leuzzi et al. for Parkinsonism and the 2017 ILAE classification for epilepsies.
  • Analysis of identified presentations linking childhood epilepsy/developmental and epileptic encephalopathies to later-onset Parkinsonism.

Main Results:

  • Four discrete presentations were identified: Parkinsonism as a late manifestation of neurodevelopmental disorders (DE-EE), Parkinsonism in syndromic conditions, neurodegenerative conditions with brain iron accumulation, and monogenic juvenile Parkinsonism.
  • Monogenic juvenile Parkinsonism involves intellectual disability/developmental delay (ID/DD) and hypokinetic movement disorders developing between ages 10-30, often preceded by childhood epilepsy.

Conclusions:

  • Emerging genetic conditions link childhood epilepsy or DE-EE to juvenile Parkinsonism.
  • Careful long-term follow-up is essential for individuals with ID/DD to detect early signs of Parkinsonism.

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