Exploring pathogenesis, prevalence, and genetic associations in Chiari malformation type 1: a contemporary perspective.

Abstract

Chiari malformation type 1 (CM 1) entails a structural defect in the cerebellum, involving the herniation of cerebellar tonsils toward the foramen magnum. The symptomatic or asymptomatic nature of CM 1 is contingent upon the condition of malformation in the spinal cord. This review presents an updated perspective on the prevalence of CM 1, its pathogenesis, genetic associations, and treatment. CM 1 exhibits a higher prevalence in adult females than males. Despite the incomplete understanding of the exact cause of CM 1, recent research suggests the involvement of both genetic and environmental factors in its development. One of the reasons for the occurrence of CM 1 in individuals is the smaller posterior cranial fossa, which manifests as typical morphological features. Additionally, environmental factors can potentially interact with genetic factors, modifying the observable characteristics of the disease and affecting the symptoms, severity, and development of the condition. Notably, headaches, neck pain, dizziness, and neurological deficits may be exhibited by individuals with CM 1, highlighting the importance of early diagnosis. Magnetic resonance imaging (MRI) serves as an alternative diagnostic technique for monitoring the symptoms of CM 1. Multiple genetic factors are likely to contribute to a cascade of abnormalities in CM 1. Early studies provided evidence, including clustering within families, bone development, and co-segregation with known genetic syndromes, establishing CM 1's association with a genetic basis. Furthermore, surgery is the only available treatment option to alleviate symptoms or hinder the progression of damage to the central nervous system (CNS) in CM 1 cases.