On the association between Chiari malformation type 1, bone mineral density and bone related genes

Martínez‐Gil, Núria; Mellibovsky, Leonardo; Gonzalez, Demian Manzano-Lopez; Patiño, Juan David; Cozar, Mónica; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susanna

doi:10.1016/j.bonr.2022.101181

Cited by 4 publications

(2 citation statements)

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“…Other authors like Urbizu et al [13] and Martínez-Gil et al [14] studied different types of genes. Urbizu et al [13] observed rare variants in collagen genes and linked them to the presence of connective tissue-related symptoms in CM-I patients.…”

Section: Discussionmentioning

confidence: 99%

“…Urbizu et al [13] observed rare variants in collagen genes and linked them to the presence of connective tissue-related symptoms in CM-I patients. However, Martínez-Gil et al [14] found rare variants in genes regulating bone mineral density (BMD) associated with craniofacial development but could not establish a direct correlation between BMD and CM-I, warranting further study.…”

Section: Discussionmentioning

confidence: 99%

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Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review

Rodríguez-Blanque,

Almazán-Soto,

Piqueras-Sola

et al. 2023

JCM

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Arnold Chiari syndrome is a rare congenital disease of unknown prevalence and whose origin is still under study. It is encompassed within the posterior cranial malformations, showing a wide spectrum of symptomatology that can range from severe headache, dizziness, and paresthesia to complete asymptomatology. It is for this reason that early diagnosis of the disease is difficult, and it is usually diagnosed in adolescence. Treatment is based on remodeling and decompression of the malformed posterior cranial fossa, although the risk of residual symptoms after surgery is high. The aim of this review is to update all the existing information on this pathology by means of an exhaustive analysis covering all the scientific literature produced in the last 5 years. In addition, it has been carried out following the PRISMA model and registered in PROSPERO with code CRD42023394490. One of the main conclusions based on the results obtained in this review is that the origin of the syndrome could have a genetic basis and that the treatment of choice is the decompression of the posterior cerebral fossa.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review

Rodríguez-Blanque,

Almazán-Soto,

Piqueras-Sola

et al. 2023

JCM

View full text Add to dashboard Cite

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Elucidating the Genetic Basis of Chiari I Malformation

Haller

Sadler

2023

Neurosurgery Clinics of North America

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The Genetics of Chiari 1 Malformation

Yan,

Chae,

Dahmane

et al. 2024

JCM

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Chiari malformation type 1 (CM1) is a structural defect that involves the herniation of the cerebellar tonsils through the foramen magnum, causing mild to severe neurological symptoms. Little is known about the molecular and developmental mechanisms leading to its pathogenesis, prompting current efforts to elucidate genetic drivers. Inherited genetic disorders are reported in 2–3% of CM1 patients; however, CM1, including familial forms, is predominantly non-syndromic. Recent work has focused on identifying CM1-asscoiated variants through the study of both familial cases and de novo mutations using exome sequencing. This article aims to review the current understanding of the genetics of CM1. We discuss three broad classes of CM1 based on anatomy and link them with genetic lesions, including posterior fossa-linked, macrocephaly-linked, and connective tissue disorder-linked CM1. Although the genetics of CM1 are only beginning to be understood, we anticipate that additional studies with diverse patient populations, tissue types, and profiling technologies will reveal new insights in the coming years.

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On the association between Chiari malformation type 1, bone mineral density and bone related genes

Cited by 4 publications

References 53 publications

Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review

Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review

Elucidating the Genetic Basis of Chiari I Malformation

The Genetics of Chiari 1 Malformation

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