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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.
Abstract:
Genetic early-onset Parkinsonism is unique due to frequent co-occurrence of hyperkinetic movement disorder(s) (MD), or additional neurological of systemic findings, including epilepsy in up to 10-15% of cases. Based on both the classification of Parkinsonism in children proposed by Leuzzi and coworkers and the 2017 ILAE epilepsies classification, we performed a literature review in PubMed. A few discrete presentations can be identified: Parkinsonism as a late manifestation of complex neurodevelopmental disorders, characterized by developmental and epileptic encephalopathies (DE-EE), with multiple, refractory seizure types and severely abnormal EEG characteristics, with or without preceding hyperkinetic MD; Parkinsonism in the context of syndromic conditions with unspecific reduced seizure threshold in infancy and childhood; neurodegenerative conditions with brain iron accumulation, in which childhood DE-EE is followed by neurodegeneration; and finally, monogenic juvenile Parkinsonism, in which a subset of patients with intellectual disability or developmental delay (ID/DD) develop hypokinetic MD between 10 and 30 years of age, following unspecific, usually well-controlled, childhood epilepsy. This emerging group of genetic conditions leading to epilepsy or DE-EE in childhood followed by juvenile Parkinsonism highlights the need for careful long-term follow-up, especially in the context of ID/DD, in order to readily identify individuals at increased risk of later Parkinsonism.
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