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Focal cortical dysplasia: a practical guide for neurologists
Simona Balestrini1,2,3, Carmen Barba4,2, Maria Thom3
1Pediatric Neurology Unit and Laboratories, Meyer Children's Hospital IRCCS, Florence, Italy simona.balestrini@meyer.it.
Practical Neurology
|February 23, 2023
Summary
Focal cortical dysplasia (FCD), a brain malformation, is increasingly understood through genetic and imaging analysis. Advances in diagnosis and treatment, including surgery and targeted therapies, are improving outcomes for patients with drug-resistant epilepsy.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Focal cortical dysplasia (FCD) is a malformation of cortical development causing epilepsy.
- Traditional classification relied on histopathology, clinical, EEG, and imaging features.
- Recent updates emphasize a genotype-phenotype approach integrating genetics.
Purpose of the Study:
- To outline the updated classification of FCD subtypes.
- To describe the genetic underpinnings of FCD.
- To review current and emerging treatment strategies.
Main Methods:
- Histopathological analysis of resected tissue.
- Genetic analysis (MTOR pathway genes, SLC35A2).
- Presurgical MRI and neurophysiological assessments.
Main Results:
- FCDs result from somatic mutations in MTOR pathway genes or double-hit mutations.
- Mild malformation with oligodendroglial hyperplasia in epilepsy is linked to SLC35A2 mutations.
- Most FCD patients present with drug-resistant epilepsy and respond to surgery.
Conclusions:
- Genotype-phenotype correlation is crucial for FCD classification.
- Surgical treatment is effective for most FCD patients.
- Targeted therapies (e.g., mTOR inhibitors) and improved diagnostics enhance treatment outcomes.
