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Published on: October 13, 2023
ILAE Genetics Literacy series: Progressive myoclonus epilepsies
Jillian M Cameron1, Colin A Ellis2, Samuel F Berkovic1
1Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
Abstract:
Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME. Almost fifty genetic causes of PME have now been established, although some remain extremely rare. Herein, we provide a review of clinical phenotypes and genotypes of the more commonly encountered PMEs. Using an illustrative case example, we describe appropriate clinical investigation and therapeutic strategies to guide the management of this often relentlessly progressive and devastating epilepsy syndrome. This manuscript in the Genetic Literacy series maps to Learning Objective 1.2 of the ILAE Curriculum for Epileptology (Epileptic Disord. 2019;21:129).
Insights
Progressive Myoclonus Epilepsy (PME) is a rare, genetic neurological disorder. This review covers common PME genetic causes, clinical features, and management strategies for this severe epilepsy syndrome.
Area of Science:
- Neurology
- Genetics
- Epileptology
Background:
- Progressive Myoclonus Epilepsy (PME) is a rare and severe epilepsy syndrome.
- Characterized by progressive myoclonus, ataxia, and seizures.
- Genetic factors are implicated in approximately 80% of PME cases, with nearly fifty identified genetic causes.
Purpose of the Study:
- To review the clinical phenotypes and genotypes of common PME forms.
- To provide guidance on clinical investigation and therapeutic strategies.
- To aid in the management of this devastating epilepsy syndrome.
Main Methods:
- Review of clinical and genetic data for common PME subtypes.
- Illustrative case example to demonstrate diagnostic and therapeutic approaches.
- Focus on genetic literacy and established learning objectives for epileptology.
Main Results:
- Established nearly fifty genetic causes for PME.
- Molecular diagnosis is achievable in a significant majority of individuals with PME.
- Commonly encountered PMEs are detailed with their associated genotypes and phenotypes.
Conclusions:
- Genetic diagnosis is increasingly feasible for PME.
- Understanding genotype-phenotype correlations is crucial for effective management.
- Appropriate clinical investigation and tailored therapeutic strategies are essential for managing PME.
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