Elucidating the Genetic Basis of Chiari I Malformation

Haller, Gabe; Sadler, Brooke

doi:10.1016/j.nec.2022.07.001

Cited by 3 publications

(1 citation statement)

References 27 publications

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“…A presença de hipodesenvolvimento e hipoplasia destas estruturas em graus mais elevados estão associadas a invaginação basilar (Nishikawa et al, 1997), e na MFC 1 isolada a diminuição de tamanho da região supraoccipital é mais proeminente do que do clivus (Milhorat et al, 1999;Dagtekin et al, 2011), não havendo uma displasia linear do osso occipital, com as partes afetadas de diferentes maneiras. Algumas variações genéticas poderiam ser responsáveis por determinar o tamanho da fossa posterior (Urbizu et al, 2013;Markunas et al, 2013;Markunas et al, 2014;Haller;Sadler, 2023).…”

Section: Malformação De Chiari Tipounclassified

Análise qualitativa das curvas da pressão intracraniana por método não-invasivo e sua correlação com prognóstico cirúrgico da descompressão do forame magno na doença de Chiari tipo I

Rusafa Neto

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Section: Malformação De Chiari Tipounclassified

Análise qualitativa das curvas da pressão intracraniana por método não-invasivo e sua correlação com prognóstico cirúrgico da descompressão do forame magno na doença de Chiari tipo I

Rusafa Neto

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Human genetics and molecular genomics of Chiari malformation type 1

Mekbib,

Muñoz,

Allington

et al. 2023

Trends in Molecular Medicine

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

Mohd Rosdi,

Omar,

Mohamad Ghazali

et al. 2024

Asian Biomedicine

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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.

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Elucidating the Genetic Basis of Chiari I Malformation

Cited by 3 publications

References 27 publications

Análise qualitativa das curvas da pressão intracraniana por método não-invasivo e sua correlação com prognóstico cirúrgico da descompressão do forame magno na doença de Chiari tipo I

Análise qualitativa das curvas da pressão intracraniana por método não-invasivo e sua correlação com prognóstico cirúrgico da descompressão do forame magno na doença de Chiari tipo I

Human genetics and molecular genomics of Chiari malformation type 1

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

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