Jornal de Pesquisa Clínica

Diversity in Phenotypic Manifestations Associated with Novel Doublecortin Gene Mutations in Subcortical Band Heterotopia

Abstract

Ferdinando Nicoletti

Subcortical band heterotopia commonly known as double cortex syndrome, is a rare neurological disorder characterized by abnormal bands of gray matter beneath the cerebral cortex. This condition is primarily associated with mutations in the doublecortin gene, crucial for proper neuronal migration during brain development. Recent studies have highlighted the genetic basis of SBH and the diverse clinical presentations linked to new mutations in the DCX gene. This article explores the intricate relationship between genetic mutations and clinical phenotypes in SBH, emphasizing the evolving understanding of this neurodevelopmental disorder. SBH manifests a wide spectrum of neurological symptoms, ranging from mild cognitive impairments to severe epilepsy and developmental delay. Neuroimaging studies reveal variability in radiological features, reflecting differences in genetic mutations and developmental processes. While mutations in the DCX gene account for most SBH cases, genetic heterogeneity exists, with mutations in other genes also implicated. Understanding the clinical spectrum of SBH is crucial for accurate diagnosis, prognosis, and tailored management strategies, including genetic testing and neurodevelopmental interventions. In conclusion, SBH represents a complex disorder with significant phenotypic variability, influenced by mutations in the doublecortin gene and other genes involved in neuronal migration pathways. Further research into the genetic and molecular mechanisms underlying SBH is essential for developing targeted therapies and improving outcomes for affected individuals.